Publikationsarchiv
2022
- Berweck, S., M. Banach, D. Gaebler-Spira, H. G. Chambers, A. S. Schroeder, T. L. Geister, M. Althaus, A. Hanschmann, M. Vacchelli, M. V. Bonfert, F. Heinen, and E. Dabrowski. "Safety Profile and Lack of Immunogenicity of Incobotulinumtoxina in Pediatric Spasticity and Sialorrhea: A Pooled Analysis." Toxins (Basel) 14, no. 9 (Aug 25 2022). Link
- Blaschek, A., A. Bertolini, G. Koukou, E. M. Wendel, and K. Rostasy. "[Practice-Relevant Autoimmune Diseases of the Central Nervous System in Pediatrics: Early Diagnosis and Adequate Initiation of Treatment]." Nervenarzt 93, no. 2 (Feb 2022): 151-57. Praxisrelevante autoimmune Erkrankungen des zentralen Nervensystems in der Padiatrie: frühe Diagnose und adäquater Therapiebeginn. Link
- Blaschek, A., N. Hesse, B. Warken, K. Vill, T. Well, C. Hodek, F. Heinen, W. Muller-Felber, and A. S. Schroeder. "Quantitative Motion Measurements Based on Markerless 3d Full-Body Tracking in Children with Sma Highly Correlate with Standardized Motor Assessments." J Neuromuscul Dis 9, no. 1 (2022): 121-28. Link
- Blaschek, A., H. Kolbel, O. Schwartz, C. Kohler, D. Glaser, K. Eggermann, I. Hannibal, U. Schara-Schmidt, W. Muller-Felber, and K. Vill. "Newborn Screening for Sma - Can a Wait-and-See Strategy Be Responsibly Justified in Patients with Four Smn2 Copies?", J Neuromuscul Dis 9, no. 5 (2022): 597-605. Link
- Bockhop, F., M. Zeldovich, S. Greving, U. Krenz, K. Cunitz, D. Timmermann, E. M. Bonke, M. V. Bonfert, I. K. Koerte, M. Kieslich, M. Roediger, M. Staebler, S. Berweck, T. Paul, K. Brockmann, P. Rojczyk, A. Buchheim, and N. von Steinbuechel. "Psychometric Properties of the German Version of the Rivermead Post-Concussion Symptoms Questionnaire in Adolescents after Traumatic Brain Injury and Their Proxies." J Clin Med 12, no. 1 (Dec 31 2022). Link
- Bonfert, M., F. Heinen, P. Kanovsky, A. S. Schroeder, H. G. Chambers, E. Dabrowski, T. L. Geister, A. Hanschmann, M. Althaus, M. Banach, and D. Gaebler-Spira. "Spasticity-Related Pain in Children/Adolescents with Cerebral Palsy. Part 2 Incobotulinumtoxina Efficacy Results from a Pooled Analysis." J Pediatr Rehabil Med (Aug 27 2022). Link
- Bonfert, M. V., E. Jelesch, J. Hartmann, H. Koenig, B. Warken, A. Meuche, N. H. Jung, P. Bernius, R. Weinberger, A. L. Sorg, R. von Kries, U. G. Narayanan, M. Hoesl, S. Berweck, and A. S. Schroeder. "Test-Retest Reliability and Construct Validity of the German Translation of the Gait Outcome Assessment List (Goal) Questionnaire for Children with Ambulatory Cerebral Palsy." Neuropediatrics 53, no. 2 (Apr 2022): 96-101. Link
- Bonfert, M. V., N. Sollmann, T. Renner, C. Borner, G. Urban, P. Schandelmaier, I. Hannibal, K. Huss, C. Parisi, L. Gerstl, K. Vill, A. Blaschek, H. Koenig, B. Klose, F. Heinen, M. N. Landgraf, and L. Albers. "Burden of Disease and Lifestyle Habits in Adolescents and Young Adults Prone to Frequent Episodic Migraine: A Secondary Comparative Analysis." J Child Health Care 26, no. 2 (Jun 2022): 215-27. Link
- Bonke, E. M., M. V. Bonfert, S. M. Hillmann, J. Seitz-Holland, M. Gaubert, T. L. T. Wiegand, A. De Luca, K. I. K. Cho, S. B. Sandmo, E. Yhang, Y. Tripodis, C. Seer, D. Kaufmann, E. Kaufmann, M. Muehlmann, J. Gooijers, A. P. Lin, A. Leemans, S. P. Swinnen, R. Bahr, M. E. Shenton, O. Pasternak, U. Tacke, F. Heinen, and I. K. Koerte. "Neurological Soft Signs in Adolescents Are Associated with Brain Structure." Cereb Cortex (Nov 24 2022). Link
- Borner, C., T. Renner, F. Trepte-Freisleder, G. Urban, P. Schandelmaier, M. Lang, M. F. Lechner, H. Koenig, B. Klose, L. Albers, S. M. Krieg, T. Baum, F. Heinen, M. N. Landgraf, N. Sollmann, and M. V. Bonfert. "Response Predictors of Repetitive Neuromuscular Magnetic Stimulation in the Preventive Treatment of Episodic Migraine." Front Neurol 13 (2022): 919623. Link
- Borner, C., J. Staisch, M. Lang, A. Hauser, I. Hannibal, K. Huss, B. Klose, M. F. Lechner, N. Sollmann, F. Heinen, M. N. Landgraf, and M. V. Bonfert. "Repetitive Neuromuscular Magnetic Stimulation for Pediatric Headache Disorders: Muscular Effects and Factors Affecting Level of Response." Brain Sci 12, no. 7 (Jul 16 2022). Link
- Della Marina, A., A. Bertolini, A. Wegener-Panzer, M. Flotats-Bastardas, T. Reinhardt, I. El Naggar, F. Distelmaier, A. Blaschek, U. Schara-Schmidt, T. Brunet, M. Wagner, D. Smirnov, H. Prokisch, S. B. Wortmann, and K. Rostasy. "Mitochondrial Diseases Mimicking Autoimmune Diseases of the Cns and Good Response to Steroids Initially." Eur J Paediatr Neurol 41 (Nov 2022): 27-35. https://dx.doi.org/10.1016/j.ejpn.2022.09.003.
- Dowling, J. J., W. Muller-Felber, B. K. Smith, C. G. Bonnemann, N. L. Kuntz, F. Muntoni, L. Servais, L. N. Alfano, A. H. Beggs, D. A. Bilder, A. Blaschek, T. Duong, R. J. Graham, M. Jain, M. W. Lawlor, J. Lee, J. Coats, C. Lilien, L. P. Lowes, V. MacBean, S. Neuhaus, M. Noursalehi, T. Pitts, C. Finlay, S. Christensen, G. Rafferty, A. M. Seferian, E. Tsuchiya, E. S. James, W. Miller, B. Sepulveda, M. C. Vila, S. Prasad, S. Rico, P. B. Shieh, and Inceptus investigators. "Inceptus Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy." J Neuromuscul Dis 9, no. 4 (2022): 503-16. Link
- El Naggar, I., R. Cleaveland, E. M. Wendel, A. Bertolini, K. Schanda, M. Karenfort, C. Thiels, A. Della Marina, M. Schimmel, S. Leiz, C. Lechner, M. Baumann, M. Reindl, A. Wegener-Panzer, K. Rostasy, and Biomarker Study Group on behalf of the. "Mr Imaging in Children with Transverse Myelitis and Acquired Demyelinating Syndromes." Mult Scler Relat Disord 67 (Nov 2022): 104068. Link
- Gerstl, L., I. Borggraefe, F. Heinen, and M. Olivieri. "[Arterial Ischemic Stroke in Childhood and Adolescence : Time-Critical Emergency in Pediatrics]." Nervenarzt 93, no. 12 (Dec 2022): 1258-70. Arteriell ischamischer Schlaganfall im Kindes- und Jugendalter : Zeitkritischer Notfall in der Padiatrie. Link
- Gerstl, L., I. Borggrafe, F. Heinen, and M. Olivieri. "[Arterial Ischemic Stroke in Childhood and Adolescence]." Monatsschr Kinderheilkd 170, no. 5 (2022): 458-71. Arteriell ischamischer Schlaganfall im Kindes- und Jugendalter: Zeitkritischer Notfall in der Padiatrie. Link
- Gerstl, L., M. Olivieri, F. Heinen, C. Bidlingmaier, A. S. Schroeder, K. Reiter, F. Hoffmann, K. Kurnik, T. Liebig, C. G. Trumm, N. A. Haas, A. Jakob, and I. Borggraefe. "[Stroke Alarm-Arterial Ischemic Stroke as One of the Most Time-Critical Emergencies in Children and Adolescents]." Nervenarzt 93, no. 2 (Feb 2022): 158-66. Notfall-Neuropadiatrie - Der arteriell ischamische Schlaganfall als einer der zeitkritischsten Notfalle bei Kindern und Jugendlichen. Link
- Harrer, P., V. Leppmeier, A. Berger, S. Demund, J. Winkelmann, S. Berweck, and M. Zech. "A De Novo Bcl11b Variant Case Manifesting with Dystonic Movement Disorder Regarding the Article "Bcl11b-Related Disorder in Two Canadian Children: Expanding the Clinical Phenotype (Prasad Et Al., 2020)."." Eur J Med Genet 65, no. 11 (Nov 2022): 104635. Link
- Heinen, F., M. Bonfert, P. Kanovsky, A. S. Schroeder, H. G. Chambers, E. Dabrowski, T. L. Geister, A. Hanschmann, M. Althaus, M. Banach, and D. Gaebler-Spira. "Spasticity-Related Pain in Children/Adolescents with Cerebral Palsy. Part 1: Prevalence and Clinical Characteristics from a Pooled Analysis." J Pediatr Rehabil Med 15, no. 1 (2022): 129-43. Link
- Hosl, M., A. Schupfinger, L. Klich, L. Geest, P. Bauer, M. V. Bonfert, F. K. Afifi, S. Nader, and S. Berweck. "Relationship between Kinematic Gait Quality and Caregiver-Reported Everyday Mobility in Children and Youth with Spastic Cerebral Palsy." Eur J Paediatr Neurol 42 (Dec 5 2022): 88-96. Link
- Jost, W. H., T. Baumer, S. Berweck, R. Laskawi, B. Spittau, A. Steffen, and M. Winterholler. "[Therapy of Sialorrhea with Botulinum Toxin - an Update]." Fortschr Neurol Psychiatr 90, no. 5 (May 2022): 222-32. Therapie der Sialorrhoe mit Botulinumtoxin - ein Update. Link
- Jost, W. H., T. Baumer, A. Bevot, U. Birkmann, C. Buhmann, M. Grosheva, O. Guntinas-Lichius, U. Mlynczak, S. Paus, C. Pflug, S. Schroder, A. Steffen, B. Wilken, and S. Berweck. "[Correction: Treatment of Sialorrhea with Botulinum Neurotoxin Type a - Consensus Practice Recommendations for Children and Adults]." Fortschr Neurol Psychiatr 90, no. 5 (May 2022): e1. Erratum: Behandlung der Sialorrhoe mit Botulinum Neurotoxin Typ A - Konsentierte Praxisempfehlungen fur Kinder und Erwachsene. Link
- Jost, W. H., T. Baumer, A. Bevot, U. Birkmann, C. Buhmann, M. Grosheva, O. Guntinas-Lichius, U. Mlynczak, S. Paus, C. Pflug, S. Schroder, A. Steffen, B. Wilken, and S. Berweck. "[Treatment of Sialorrhea with Botulinum Neurotoxin Type a - Consensus Practice Recommendations for Children and Adults]." Fortschr Neurol Psychiatr 90, no. 5 (May 2022): 212-21. Behandlung der Sialorrhoe mit Botulinum Neurotoxin Typ A - Konsentierte Praxisempfehlungen fur Kinder und Erwachsene. Link
- Kolbel, H., L. Modler, A. Blaschek, U. Schara-Schmidt, K. Vill, O. Schwartz, and W. Muller-Felber. "Parental Burden and Quality of Life in 5q-Sma Diagnosed by Newborn Screening." Children (Basel) 9, no. 12 (Nov 26 2022). Link
- Kolbel, H., K. Vill, O. Schwartz, A. Blaschek, U. Nennstiel, U. Schara-Schmidt, G. F. Hoffmann, D. Glaser, W. Roschinger, G. Bernert, A. Klein, and W. Muller-Felber. "[Newborn Screening Program for Spinal Muscular Atrophy]." Nervenarzt 93, no. 2 (Feb 2022): 135-41. Neugeborenenscreeningprogramm fur die spinale Muskelatrophie. Link
- Kunz, M., P. Karschnia, I. Borggraefe, S. Noachtar, J. C. Tonn, and C. Vollmar. "Seizure-Free Outcome and Safety of Repeated Epilepsy Surgery for Persistent or Recurrent Seizures." J Neurosurg 138, no. 1 (Jan 1 2023): 9-18. Link
- Lahr, C. A., M. Landgraf, F. Wagner, A. Cipitria, I. Moreno-Jimenez, O. Bas, B. Schmutz, C. Meinert, A. D. S. Cavalcanti, T. Mashimo, Y. Miyasaka, B. M. Holzapfel, A. Shafiee, J. A. McGovern, and D. W. Hutmacher. "A Humanised Rat Model of Osteosarcoma Reveals Ultrastructural Differences between Bone and Mineralised Tumour Tissue." Bone 158 (May 2022): 116018. Link
- Lersch, R., R. Jannadi, L. Grosse, M. Wagner, M. F. Schneider, C. von Stulpnagel, F. Heinen, H. Potschka, and I. Borggraefe. "Targeted Molecular Strategies for Genetic Neurodevelopmental Disorders: Emerging Lessons from Dravet Syndrome." Neuroscientist (Apr 13 2022): 10738584221088244. Link
- Maier, E. M., and K. Dokoupil. "3.19 Inborn Errors of Metabolism." World Rev Nutr Diet 124 (2022): 351-61. Link
- Moorhouse, F. J., S. Cornell, L. Gerstl, J. Wagner, M. Tacke, T. Roser, F. Heinen, C. von Stulpnagel, C. Vollmar, M. Kunz, G. Ramantani, and I. Borggraefe. "Cognitive Profiles in Pediatric Unilobar Vs. Multilobar Epilepsy." Eur J Paediatr Neurol 41 (Nov 2022): 48-54. Link
- Mueller-Felber, W. "Newborn Infant Screening for Spinal Muscular Atrophy: Chances and Challenges." Dev Med Child Neurol 64, no. 5 (May 2022): 535. Link
- Olivieri, M. "Hemostaseology in Pediatrics." Hamostaseologie 42, no. 2 (Apr 2022): 101-02. Link
- Pilz, F., K. Vill, R. Rawer, M. Bonfert, M. Tacke, N. Heussinger, W. Muller-Felber, and A. Blaschek. "Mechanography in Children: Pediatric References in Postural Control." J Musculoskelet Neuronal Interact 22, no. 4 (Dec 1 2022): 431-54. Link
- Schneider, C., A. Zangrandi, N. Sollmann, M. V. Bonfert, L. D. Beaulieu, and P. M. S. Consensus Group r. "Checklist on the Quality of the Repetitive Peripheral Magnetic Stimulation (Rpms) Methods in Research: An International Delphi Study." Front Neurol 13 (2022): 852848. Link
- Schwartz, O., H. Kolbel, A. Blaschek, D. Glaser, S. Burggraf, W. Roschinger, U. Schara, W. Muller-Felber, and K. Vill. "Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two Smn2 Copies?", J Neuromuscul Dis 9, no. 3 (2022): 389-96. Link
- Sorg, A. L., R. von Kries, and I. Borggraefe. "Cognitive Disorders in Childhood Epilepsy: A Comparative Longitudinal Study Using Administrative Healthcare Data." J Neurol 269, no. 7 (Jul 2022): 3789-99. Link
- Staisch, J., C. Borner, M. Lang, A. Hauser, I. Hannibal, K. Huss, B. Klose, M. F. Lechner, N. Sollmann, F. Heinen, M. N. Landgraf, and M. V. Bonfert. "Repetitive Neuromuscular Magnetic Stimulation in Children with Headache." Eur J Paediatr Neurol 39 (Jul 2022): 40-48. Link
- Tacke, M., K. Janson, K. Vill, F. Heinen, L. Gerstl, K. Reiter, and I. Borggraefe. "Effects of a Reduction of the Number of Electrodes in the Eeg Montage on the Number of Identified Seizure Patterns." Sci Rep 12, no. 1 (Mar 17 2022): 4621. Link
- Trieschmann, G., K. Wach, M. Abel, E. Tilgner, S. Berweck, and M. Zech. "A Novel Homozygous Pde 10a Variant Leading to Infantile-Onset Hyperkinesia." Neuropediatrics 53, no. 5 (Oct 2022): 386-87. Link
- Vill, K., W. Muller-Felber, T. Landfarth, C. Koppl, N. Herzig, C. Knerr, H. Holla, G. Steidle, E. Harms, K. Hohenfellner, and Group Interdisciplinary Cystinosis. "Neuromuscular Conditions and the Impact of Cystine-Depleting Therapy in Infantile Nephropathic Cystinosis: A Cross-Sectional Analysis of 55 Patients." J Inherit Metab Dis 45, no. 2 (Mar 2022): 183-91. Link
- Wendel, E. M., H. S. Thonke, A. Bertolini, M. Baumann, A. Blaschek, A. Merkenschlager, M. Karenfort, B. Kornek, C. Lechner, D. Pohl, M. Pritsch, K. Schanda, M. Schimmel, C. Thiels, S. Waltz, G. Wiegand, B. Anlar, N. Barisic, C. Blank, M. Breu, P. Broser, A. Della Marina, K. Diepold, M. Eckenweiler, A. Eisenkolbl, M. Freilinger, U. Gruber-Sedlmayr, A. Hackenberg, T. Iff, E. Knierim, J. Koch, G. Kutschke, S. Leiz, G. Lischetzki, M. Nosadini, A. Pschibul, E. Reiter-Fink, D. Rohrbach, M. Salandin, S. Sartori, J. U. Schlump, J. Stoffels, J. Strautmanis, D. Tibussek, V. Tungler, N. Utzig, M. Reindl, K. Rostasy, and Biomarker Study Group. "Temporal Dynamics of Mog Antibodies in Children with Acquired Demyelinating Syndrome." Neurol Neuroimmunol Neuroinflamm 9, no. 6 (Nov 2022). Link
- Markovic A, Wengenroth L, Schlüter J, Kerber K, Parisi C, Strieker S, Bartelt A, Heinen F, Landgraf MN. 9/m mit unklaren Impulsdurchbrüchen, Vorbereitung auf die Facharztprüfung: Fall 99. Monatsschr Kinderheilkd.2022; 170 (Suppl 6): 533–539. Link
- Schmidt V, Hubert J, Jung K, Wengenroth2 L, Schlüter J, Kerber K, Parisi C, Bartelt A, Heinen F, Landgraf MN. Häufig – häufig übersehen – immer bedeutsam: die Fetale Alkoholspektrumstörung (FASD) - Was können wir tun?. pädiatrische praxis. 2022; 98:433–446.
- Landgraf MN. Folgenschwerer Konsum – Fetale Alkoholspektrumstörungen. Ergopraxis 2022; 1:20-25.
- Förster KM, Marchi H, Stöcklein S, Dietrich O, Ehrhardt H, Wielpütz MO, Flemmer AW, Schubert B, Mall MA, Ertl-Wagner BB, Hilgendorff A. MRI based scoring of the diseased lung in the preterm infant with BPD. Am J Physiol Lung Cell Mol Physiol. 2022 Nov 21. doi: 10.1152/ajplung.00430.2021. Online ahead of print.
- Bauer A, Pachl E, Hellmuth JC, Kneidinger N, Heydarian M, Frankenberger M, Stubbe HC, Ryffel B, Petrera A, Hauck SM, Behr J, Kaiser R, Scherer C, Deng L, Teupser D, Ahmidi N, Muenchhoff M, Schubert B, Hilgendorff A. Proteomics reveals antiviral host response and NETosis during acute COVID-19 in high-risk patients. Biochim Biophys Acta Mol Basis Dis. 2022 Nov 1;1869(2):166592. doi: 10.1016/j.bbadis.2022.166592. Online ahead of print.
- Kindt A, Kraus Y, Rasp D, Foerster KM, Ahmidi N, Flemmer AW, Herber-Jonat S, Heinen F, Weigand H, Hankemeier T, Koletzko B, Krumsiek J, Babl J, Hilgendorff A. Improved Macro- and Micronutrient Supply for Favorable Growth and Metabolomic Profile with Standardized Parenteral Nutrition Solutions for Very Preterm Infants. Nutrients. 2022; 14(19):3912. Link
- Shin H, Morty RE, Sucre JM, Negretti NM , Markmann M , Hossain H, Krauss-Etschmann S, Dehmel S, Hilgendorff A. Reference genes for the developing mouse lung under consideration of biological, technical and experimental confounders. Sci Rep. 2022 Oct 21;12(1):17679. doi: 10.1038/s41598-022-19071-1.
- Berthold EJ, Ma-Lauer Y, Chakraborty A, von Brunn B, Hilgendorff A, Hatz R, Behr J, Hausch F, Staab-Weijnitz CA, von Brunn A. Effects of immunophilin inhibitors and non-immunosuppressive analogs on coronavirus replication in human infection models. Front Cell Infect Microbiol. 2022 Sep 21;12:958634. doi: 10.3389/fcimb.2022.958634. eCollection 2022.
- Heydarian M, Schulz C, Stoeger T, Hilgendorff A. Association of immune cell recruitment and BPD development. Mol Cell Pediatr. 2022 Aug 2;9(1):16. doi: 10.1186/s40348-022-00148-w.
- Bush A, Hilgendorff A. Editorial: Bronchopulmonary Dysplasia: Past, Current and Future Pathophysiologic Concepts and Their Contribution to Understanding Lung Disease. Front Med (Lausanne). 2022 Jul 7;9:922631. doi: 10.3389/fmed.2022.922631. eCollection 2022.
- Shahzad T, Chao CM, Hadzic S, Behnke J, Biebach L, Böttcher-Friebertshäuser E, Wilhelm J, Hilgendorff A, Zimmer KP, Morty RE, Bellusci S, Ehrhardt H. TRAIL protects the immature lung from hyperoxic injury. Cell Death Dis. 2022 Jul 15;13(7):614. doi: 10.1038/s41419-022-05072-5.
- Bush A, Hilgendorff A. Editorial: Bronchopulmonary Dysplasia: Past, Current and Future Pathophysiologic Concepts and Their Contribution to Understanding Lung Disease. Front Med (Lausanne). 2022 Jul 7;9:922631. doi: 10.3389/fmed.2022.922631. eCollection 2022.
- Majeed RW, Wilkins MR, Howard L, Hassoun PM, Anthi A, Cajigas HR, Cannon J, Chan SY, Damonte V, Elwing J, Förster K, Frantz R, Ghio S, Al Ghouleh I, Hilgendorff A, Jose A, Juaneda E, Kiely DG, Lawrie A, Orfanos SE, Pepe A, Pepke-Zaba J, Sirenko Y, Swett AJ, Torbas O, Zamanian RT, Marquardt K, Michel-Backofen A, Antoine T, Wilhelm J, Barwick S, Krieb P, Fuenderich M, Fischer P, Gall H, Ghofrani HA, Grimminger F, Tello K, Richter MJ, Seeger W. Pulmonary Vascular Research Institute GoDeep: A meta-registry merging deep phenotyping datafrom international PH reference centers. Pulm Circ. 2022 Jul 1;12(3):e12123. doi: 10.1002/pul2.12123. eCollection 2022 Jul.
- Heydarian M, Oak P, Zhang X, Kamgari N, Kindt A, Koschlig M, Pritzke T, Gonzalez-Rodriguez E, Förster K, Morty RE, Häfner F, Hübener C, Flemmer AW, Yildirim AO, Sudheendra D, Tian X, Petrera A, Kirsten H, Ahnert P, Morrell N, Desai TJ, Sucre J, Spiekerkoetter E, Hilgendorff A. Relationship between impaired BMP signalling and clinical risk factors at early-stage vascular injury in the preterm infant. Thorax. 2022 May 17;thoraxjnl-2021-218083. doi: 10.1136/thoraxjnl-2021-218083. Online ahead of print.
- Kindt ASD, Förster KM, Cochius-den Otter SCM, Flemmer AW, Hauck SM, Flatley A, Kamphuis J, Karrasch S, Behr J, Franz A, Härtel C, Krumsiek J, Tibboel D, Hilgendorff A. Validation of disease-specific biomarkers for the early detection of bronchopulmonary dysplasia. Pediatr Res. 2022 May 20. doi: 10.1038/s41390-022-02093-w. Online ahead of print.
- Preisendörfer S, Ishikawa Y, Hennen E, Winklmeier S, Schupp JC, Knüppel L, Fernandez IE, Binzenhöfer L, Flatley A, Juan-Guardela BM, Ruppert C, Guenther A, Frankenberger M, Hatz RA, Kneidinger N, Behr J, Feederle R, Schepers A, Hilgendorff A, Kaminski N, Meinl E, Bächinger HP, Eickelberg O, Staab-Weijnitz CA. FK506-Binding Protein 11 Is a Novel Plasma Cell-Specific Antibody Folding Catalyst with Increased Expression in Idiopathic Pulmonary Fibrosis. Cells. 2022 Apr 14;11(8):1341. doi: 10.3390/cells11081341. PMID: 35456020; PMCID: PMC9027113.
- Stoecklein S, Koliogiannis V, Prester T, Kolben T, Jegen M, Hübener C, Hasbargen U, Flemmer A, Dietrich O, Schinner R, Dinkel J, Fink N, Muenchhoff M, Hintz S, Delius M, Mahner S, Ricke J, Hilgendorff A. Effects of SARS-CoV-2 on prenatal lung growth assessed by fetal MRI. Lancet Respir Med. 2022 Mar 16:S2213-2600(22)00060-1. doi: 10.1016/S2213-2600(22)00060-1. Epub ahead of print. PMID: 35305309; PMCID: PMC8926408. (SS, VK, JR, and AH contributed equally.)
2021
Publikationen Neurologie 2021
- Appelhof B, Wagner M, Hoefele J, Heinze A, Roser T, Koch-Hogrebe M, Roosendaal SD, Dehghani M, Mehrjardi MYV, Torti E, Houlden H, Maroofian R, Rajabi F, Sticht H, Baas F, Wieczorek D, Jamra RA. Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. Eur J Hum Genet. 2020 Nov 9. doi: 10.1038/s41431-020-00749-x. PMID: 33168985.
- Acsadi, G., T. O. Crawford, W. Muller-Felber, P. B. Shieh, R. Richardson, N. Natarajan, D. Castro, D. Ramirez-Schrempp, G. Gambino, P. Sun, and W. Farwell. "Safety and Efficacy of Nusinersen in Spinal Muscular Atrophy: The Embrace Study." Muscle Nerve 63, no. 5 (May 2021): 668-77. https://dx.doi.org/10.1002/mus.27187.
- Balestrini, S., D. Chiarello, M. Gogou, K. Silvennoinen, C. Puvirajasinghe, W. D. Jones, P. Reif, K. M. Klein, F. Rosenow, Y. G. Weber, H. Lerche, S. Schubert-Bast, I. Borggraefe, A. Coppola, S. Troisi, R. S. Moller, A. Riva, P. Striano, F. Zara, C. Hemingway, C. Marini, A. Rosati, D. Mei, M. Montomoli, R. Guerrini, J. H. Cross, and S. M. Sisodiya. "Real-Life Survey of Pitfalls and Successes of Precision Medicine in Genetic Epilepsies." J Neurol Neurosurg Psychiatry 92, no. 10 (Oct 2021): 1044-52. https://dx.doi.org/10.1136/jnnp-2020-325932.
- Blaschek, A., A. Bertolini, G. Koukou, E. M. Wendel, and K. Rostasy. "[Practice-Relevant Autoimmune Diseases of the Central Nervous System in Pediatrics: Early Diagnosis and Adequate Initiation of Treatment]." Nervenarzt (Nov 3 2021). Praxisrelevante autoimmune Erkrankungen des zentralen Nervensystems in der Padiatrie: fruhe Diagnose und adaquater Therapiebeginn. https://dx.doi.org/10.1007/s00115-021-01211-z.
- Blaschek, A., M. Rodrigues, R. Rawer, C. Muller, L. Ille, S. Schroder, M. Idriess, W. Muller-Felber, and K. Vill. "Jumping Mechanography Is a Suitable Complementary Method to Assess Motor Function in Ambulatory Boys with Duchenne Muscular Dystrophy." Neuropediatrics 52, no. 6 (Dec 2021): 455-61. https://dx.doi.org/10.1055/s-0041-1722880.
- Bonfert, M. V., E. Jelesch, J. Hartmann, H. Koenig, B. Warken, A. Meuche, N. H. Jung, P. Bernius, R. Weinberger, A. L. Sorg, R. von Kries, U. G. Narayanan, M. Hoesl, S. Berweck, and A. S. Schroeder. "Test-Retest Reliability and Construct Validity of the German Translation of the Gait Outcome Assessment List (Goal) Questionnaire for Children with Ambulatory Cerebral Palsy." Neuropediatrics (Dec 21 2021). https://dx.doi.org/10.1055/s-0040-1722688.
- Bonfert, M. V., N. Sollmann, T. Renner, C. Borner, G. Urban, P. Schandelmaier, I. Hannibal, K. Huss, C. Parisi, L. Gerstl, K. Vill, A. Blaschek, H. Koenig, B. Klose, F. Heinen, M. N. Landgraf, and L. Albers. "Burden of Disease and Lifestyle Habits in Adolescents and Young Adults Prone to Frequent Episodic Migraine: A Secondary Comparative Analysis." J Child Health Care (May 6 2021): 13674935211008712. https://dx.doi.org/10.1177/13674935211008712.
- Borner, C., G. Urban, L. D. Beaulieu, N. Sollmann, S. M. Krieg, A. Straube, T. Renner, P. Schandelmaier, M. Lang, M. Lechner, K. Vill, L. Gerstl, F. Heinen, M. N. Landgraf, and M. V. Bonfert. "The Bottom-up Approach: Non-Invasive Peripheral Neurostimulation Methods to Treat Migraine: A Scoping Review from the Child Neurologist's Perspective." Eur J Paediatr Neurol 32 (May 2021): 16-28. https://dx.doi.org/10.1016/j.ejpn.2021.02.008.
- Brugger, M., F. Becker-Dettling, T. Brunet, T. Strom, T. Meitinger, E. Lurz, I. Borggraefe, and M. Wagner. "A Homozygous Truncating Variant in Ccdc186 in an Individual with Epileptic Encephalopathy." Ann Clin Transl Neurol 8, no. 1 (Jan 2021): 278-83. https://dx.doi.org/10.1002/acn3.51260.
- Brunet, T., R. Jech, M. Brugger, R. Kovacs, B. Alhaddad, G. Leszinski, K. M. Riedhammer, D. S. Westphal, I. Mahle, K. Mayerhanser, M. Skorvanek, S. Weber, E. Graf, R. Berutti, J. Necpal, P. Havrankova, P. Pavelekova, M. Hempel, U. Kotzaeridou, G. F. Hoffmann, S. Leiz, C. Makowski, T. Roser, S. A. Schroeder, R. Steinfeld, G. Strobl-Wildemann, J. Hoefele, I. Borggraefe, F. Distelmaier, T. M. Strom, J. Winkelmann, T. Meitinger, M. Zech, and M. Wagner. "De Novo Variants in Neurodevelopmental Disorders-Experiences from a Tertiary Care Center." Clin Genet 100, no. 1 (Jul 2021): 14-28. https://dx.doi.org/10.1111/cge.13946.
- Dabrowski, E., H. G. Chambers, D. Gaebler-Spira, M. Banach, P. Kanovsky, H. Dersch, M. Althaus, T. L. Geister, and F. Heinen. "Incobotulinumtoxina Efficacy/Safety in Upper-Limb Spasticity in Pediatric Cerebral Palsy: Randomized Controlled Trial." Pediatr Neurol 123 (Oct 2021): 10-20. https://dx.doi.org/10.1016/j.pediatrneurol.2021.05.014.
- Doryab, A., M. B. Taskin, P. Stahlhut, A. Schroppel, S. Orak, C. Voss, A. Ahluwalia, M. Rehberg, A. Hilgendorff, T. Stoger, J. Groll, and O. Schmid. "A Bioinspired in Vitro Lung Model to Study Particokinetics of Nano-/Microparticles under Cyclic Stretch and Air-Liquid Interface Conditions." Front Bioeng Biotechnol 9 (2021): 616830. https://dx.doi.org/10.3389/fbioe.2021.616830.
- Eichinger, A., H. von Bernuth, C. Dedieu, S. A. Schroeder, G. la Marca, M. H. Albert, and F. Hauck. "Upfront Enzyme Replacement Via Erythrocyte Transfusions for Pnp Deficiency." J Clin Immunol 41, no. 5 (Jul 2021): 1112-15. https://dx.doi.org/10.1007/s10875-021-01003-9.
- Finkel, R. S., C. M. McDonald, H. Lee Sweeney, E. Finanger, E. Neil Knierbein, K. R. Wagner, K. D. Mathews, W. Marks, J. Statland, J. Nance, H. J. McMillan, G. McCullagh, C. Tian, M. M. Ryan, D. O'Rourke, W. Muller-Felber, M. Tulinius, W. B. Burnette, C. T. Nguyen, K. Vijayakumar, J. Johannsen, H. C. Phan, M. Eagle, J. MacDougall, M. Mancini, and J. M. Donovan. "A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the Polarisdmd Trial." J Neuromuscul Dis 8, no. 5 (2021): 769-84. https://dx.doi.org/10.3233/JND-210689.
- Fischer, D. S., M. Ansari, K. I. Wagner, S. Jarosch, Y. Huang, C. H. Mayr, M. Strunz, N. J. Lang, E. D'Ippolito, M. Hammel, L. Mateyka, S. Weber, L. S. Wolff, K. Witter, I. E. Fernandez, G. Leuschner, K. Milger, M. Frankenberger, L. Nowak, K. Heinig-Menhard, I. Koch, M. G. Stoleriu, A. Hilgendorff, J. Behr, A. Pichlmair, B. Schubert, F. J. Theis, D. H. Busch, H. B. Schiller, and K. Schober. "Single-Cell Rna Sequencing Reveals Ex Vivo Signatures of Sars-Cov-2-Reactive T Cells through 'Reverse Phenotyping'." Nat Commun 12, no. 1 (Jul 26 2021): 4515. https://dx.doi.org/10.1038/s41467-021-24730-4.
- Forster, K. M., C. J. Roth, A. Hilgendorff, B. Ertl-Wagner, A. W. Flemmer, and W. A. Wall. "In Silico Numerical Simulation of Ventilator Settings During High-Frequency Ventilation in Preterm Infants." Pediatr Pulmonol 56, no. 12 (Dec 2021): 3839-46. https://dx.doi.org/10.1002/ppul.25626.
- Froeba-Pohl, A., J. Muehling, K. Vill, V. Grote, T. Komm, D. Seitz, R. Kappler, and D. von Schweinitz. "Lymphatic Leakage after Surgery for Neuroblastoma: A Rare Complication?", Eur J Pediatr Surg 31, no. 2 (Apr 2021): 140-46. https://dx.doi.org/10.1055/s-0039-1701008.
- Gerckens, M., K. Schorpp, F. Pelizza, M. Wograth, K. Reichau, H. Ma, A. M. Dworsky, A. Sengupta, M. G. Stoleriu, K. Heinzelmann, J. Merl-Pham, M. Irmler, H. N. Alsafadi, E. Trenkenschuh, L. Sarnova, M. Jirouskova, W. Friess, S. M. Hauck, J. Beckers, N. Kneidinger, J. Behr, A. Hilgendorff, K. Hadian, M. Lindner, M. Konigshoff, O. Eickelberg, M. Gregor, O. Plettenburg, A. O. Yildirim, and G. Burgstaller. "Phenotypic Drug Screening in a Human Fibrosis Model Identified a Novel Class of Antifibrotic Therapeutics." Sci Adv 7, no. 52 (Dec 24 2021): eabb3673. https://dx.doi.org/10.1126/sciadv.abb3673.
- Gerstl, L., N. Tadych, F. Heinen, C. Kainz, M. V. Bonfert, I. Hannibal, K. Huss, R. Ruscheweyh, A. Straube, V. Obermeier, R. von Kries, and M. N. Landgraf. "Migraine and the Development of Additional Psychiatric and Pain Disorders in the Transition from Adolescence to Adulthood." Cephalalgia 41, no. 13 (Nov 2021): 1342-47. https://dx.doi.org/10.1177/03331024211021792.
- Gerstl, L., E. Willimsky, C. Remi, S. Noachtar, I. Borggrafe, and M. Tacke. "A Systematic Review of Seizure-Freedom Rates in Patients with Benign Epilepsy of Childhood with Centrotemporal Spikes Receiving Antiepileptic Drugs." Clin Neuropharmacol 44, no. 2 (Mar-Apr 01 2021): 39-46. https://dx.doi.org/10.1097/WNF.0000000000000435.
- Gil, N. L., G. A. Azevedo, A. M. Balbino, M. M. Silva, M. H. C. Carvalho, E. H. Akamine, A. C. Keller, R. G. Landgraf, and M. A. Landgraf. "Intrauterine Growth Restriction Leads to a High-Corticosterone Producing Offspring: An Implication for Pulmonary Infection Susceptibility." Life Sci 281 (Sep 15 2021): 119764. https://dx.doi.org/10.1016/j.lfs.2021.119764.
- Heinen, F., P. Kanovsky, A. S. Schroeder, H. G. Chambers, E. Dabrowski, T. L. Geister, A. Hanschmann, F. J. Martinez-Torres, I. Pulte, M. Banach, and D. Gaebler-Spira. "Incobotulinumtoxina for the Treatment of Lower-Limb Spasticity in Children and Adolescents with Cerebral Palsy: A Phase 3 Study." J Pediatr Rehabil Med 14, no. 2 (2021): 183-97. https://dx.doi.org/10.3233/PRM-210040.
- Heinen F. Early childhood onset migraine - A serious long-term condition. Eur J Paediatr Neurol. 2020 Jul;27:1. doi: 10.1016/j.ejpn.2020.06.017. Epub 2020 Jun 29. PMID: 32680721.
- Hoffmann, F., M. Landeg, W. Rittberg, D. Hinzmann, D. Steinbrunner, W. Bocker, F. Heinen, K. G. Kanz, and V. Bogner-Flatz. "Pediatric Emergencies-Worsening Care Bottlenecks as Exemplified in a Major German City." Dtsch Arztebl Int 118, no. 22 (Jun 4 2021): 373-74. https://dx.doi.org/10.3238/arztebl.m2021.0155.
- Hoffmann, F., M. Landeg, W. Rittberg, D. Hinzmann, D. Steinbrunner, F. Hey, F. Heinen, K. G. Kanz, and V. Bogner-Flatz. "[Childhood Emergencies-Worsening Healthcare Bottlenecks for Children in a Systematic Long-Term Analysis of the Ems System in a German Metropolis]." Med Klin Intensivmed Notfmed (Jun 22 2021). Der Notfall beim Kind - zunehmende Versorgungsengpasse fur Kinder in einer systematischen Langzeitanalyse des Rettungssystems einer deutschen Metropole. https://dx.doi.org/10.1007/s00063-021-00831-2.
- Johannesen, K. M., and Y. Liu, and M. Koko, and C. E. Gjerulfsen, and L. Sonnenberg, and J. Schubert, and C. D. Fenger, and A. Eltokhi, and M. Rannap, and N. A. Koch, and S. Lauxmann, and J. Kruger, and J. Kegele, and L. Canafoglia, and S. Franceschetti, and T. Mayer, and J. Rebstock, and P. Zacher, and S. Ruf, and M. Alber, and K. Sterbova, and P. Lassuthova, and M. Vlckova, and J. R. Lemke, and K. Platzer, and I. Krey, and C. Heine, and D. Wieczorek, and J. Kroell-Seger, and C. Lund, and K. M. Klein, and P. Y. Billie Au, and J. M. Rho, and A. W. Ho, and S. Masnada, and P. Veggiotti, and L. Giordano, and P. Accorsi, and C. E. Hoei-Hansen, and P. Striano, and F. Zara, and H. Verhelst, and J. S. Verhoeven, and B. van der Zwaag, and A. V. E. Harder, and E. Brilstra, and M. Pendziwiat, and S. Lebon, and M. Vaccarezza, and N. Minh Le, and J. Christensen, and S. Gronborg, and S. W. Scherer, and J. Howe, and W. Fazeli, and K. B. Howell, and R. Leventer, and C. Stutterd, and S. Walsh, and M. Gerard, and B. Gerard, and S. Matricardi, and C. M. Bonardi, and S. Sartori, and A. Berger, and D. Hoffman-Zacharska, and M. Mastrangelo, and F. Darra, and A. Vollo, and M. M. Motazacker, and P. Lakeman, and M. Nizon, and C. Betzler, and C. Altuzarra, and R. Caume, and A. Roubertie, and P. Gelisse, and C. Marini, and R. Guerrini, and F. Bilan, and D. Tibussek, and M. Koch-Hogrebe, and M. S. Perry, and S. Ichikawa, and E. Dadali, and A. Sharkov, and I. Mishina, and M. Abramov, and I. Kanivets, and S. Korostelev, and S. Kutsev, and K. E. Wain, and N. Eisenhauer, and M. Wagner, and J. M. Savatt, and K. Muller-Schluter, and H. Bassan, and A. Borovikov, and M. C. Nassogne, and A. Destree, and A. S. Schoonjans, and M. Meuwissen, and M. Buzatu, and A. Jansen, and E. Scalais, and S. Srivastava, and W. H. Tan, and H. E. Olson, and T. Loddenkemper, and A. Poduri, and K. L. Helbig, and I. Helbig, and M. P. Fitzgerald, and E. M. Goldberg, and T. Roser, and I. Borggraefe, and T. Brunger, and P. May, and D. Lal, and D. Lederer, and G. Rubboli, and H. O. Heyne, and G. Lesca, and U. B. S. Hedrich, and J. Benda, and E. Gardella, and H. Lerche, and R. S. Moller. "Genotype-Phenotype Correlations in Scn8a-Related Disorders Reveal Prognostic and Therapeutic Implications." Brain (Aug 25 2021). https://dx.doi.org/10.1093/brain/awab321.
- Kaiser, R., A. Leunig, K. Pekayvaz, O. Popp, M. Joppich, V. Polewka, R. Escaig, A. Anjum, M. L. Hoffknecht, C. Gold, S. Brambs, A. Engel, S. Stockhausen, V. Knottenberg, A. Titova, M. Haji, C. Scherer, M. Muenchhoff, J. C. Hellmuth, K. Saar, B. Schubert, A. Hilgendorff, C. Schulz, S. Kaab, R. Zimmer, N. Hubner, S. Massberg, P. Mertins, L. Nicolai, and K. Stark. "Self-Sustaining Il-8 Loops Drive a Prothrombotic Neutrophil Phenotype in Severe Covid-19." JCI Insight 6, no. 18 (Sep 22 2021). https://dx.doi.org/10.1172/jci.insight.150862.
- Kanovsky, P., F. Heinen, A. S. Schroeder, H. G. Chambers, E. Dabrowski, T. L. Geister, A. Hanschmann, F. J. Martinez-Torres, I. Pulte, M. Banach, and D. Gaebler-Spira. "Safety and Efficacy of Repeat Long-Term Incobotulinumtoxina Treatment for Lower Limb or Combined Upper/Lower Limb Spasticity in Children with Cerebral Palsy." J Pediatr Rehabil Med (Dec 21 2021). https://dx.doi.org/10.3233/PRM-210041.
- Keenan, P., J. Brunner, A. S. Quan, M. Smitka, G. Hahn, C. E. Pain, R. Hafner, F. Speth, L. Gerstl, and C. M. Hedrich. "Diagnosis and Treatment of Small Vessel Childhood Primary Angiitis of the Central Nervous System (Sv-Cpacns): An International Survey." Front Pediatr 9 (2021): 756612. https://dx.doi.org/10.3389/fped.2021.756612.
- Klockner, C., H. Sticht, P. Zacher, B. Popp, H. E. Babcock, D. P. Bakker, K. Barwick, M. V. Bonfert, C. G. Bonnemann, E. H. Brilstra, Consortium Care4Rare Canada, W. K. Chung, A. J. Clarke, P. Devine, S. Donkervoort, J. L. Fraser, J. Friedman, A. Gates, J. Ghoumid, E. Hobson, G. Horvath, J. Keller-Ramey, B. Keren, M. A. Kurian, V. Lee, K. A. Leppig, J. Lundgren, M. T. McDonald, H. M. McLaughlin, A. McTague, H. C. Mefford, C. Mignot, M. A. Mikati, C. Nava, F. L. Raymond, J. R. Sampson, A. Sanchis-Juan, V. Shashi, J. T. C. Shieh, M. Shinawi, A. Slavotinek, T. Stodberg, N. Stong, J. A. Sullivan, A. C. Taylor, T. L. Toler, M. J. van den Boogaard, S. N. van der Crabben, K. L. I. van Gassen, R. H. van Jaarsveld, J. Van Ziffle, A. F. Wadley, M. Wagner, K. Wigby, S. B. Wortmann, Y. A. Zarate, R. S. Moller, J. R. Lemke, and K. Platzer. "De Novo Variants in Snap25 Cause an Early-Onset Developmental and Epileptic Encephalopathy." Genet Med 23, no. 4 (Apr 2021): 653-60. https://dx.doi.org/10.1038/s41436-020-01020-w.
- Kolbel, H., K. Vill, O. Schwartz, A. Blaschek, U. Nennstiel, U. Schara-Schmidt, G. F. Hoffmann, D. Glaser, W. Roschinger, G. Bernert, A. Klein, and W. Muller-Felber. "[Newborn Screening Program for Spinal Muscular Atrophy]." Nervenarzt (Oct 15 2021). Neugeborenenscreeningprogramm fur die spinale Muskelatrophie. https://dx.doi.org/10.1007/s00115-021-01204-y.
- Korinthenberg, R., R. Trollmann, B. Plecko, G. M. Stettner, M. Blankenburg, J. Weis, B. Schoser, W. Muller-Felber, N. Lochbuehler, G. Hahn, and S. Rudnik-Schoneborn. "Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines." Children (Basel) 8, no. 8 (Aug 9 2021). https://dx.doi.org/10.3390/children8080687.
- Landgraf, M. N., F. Heinen, L. Gerstl, C. Kainz, R. Ruscheweyh, A. Straube, J. Scheidt, S. von Mutius, V. Obermeier, and R. von Kries. "Comparison of a Pediatric Practice-Based Therapy and an Interdisciplinary Ambulatory Treatment in Social Pediatric Centers for Migraine in Children: A Nation-Wide Randomized-Controlled Trial in Germany: "Moma - Modules on Migraine Activity"." BMC Pediatr 21, no. 1 (Jun 30 2021): 294. https://dx.doi.org/10.1186/s12887-021-02757-2.
- Mayr, C. H., L. M. Simon, G. Leuschner, M. Ansari, J. Schniering, P. E. Geyer, I. Angelidis, M. Strunz, P. Singh, N. Kneidinger, F. Reichenberger, E. Silbernagel, S. Bohm, H. Adler, M. Lindner, B. Maurer, A. Hilgendorff, A. Prasse, J. Behr, M. Mann, O. Eickelberg, F. J. Theis, and H. B. Schiller. "Integrative Analysis of Cell State Changes in Lung Fibrosis with Peripheral Protein Biomarkers." EMBO Mol Med 13, no. 4 (Apr 9 2021): e12871. https://dx.doi.org/10.15252/emmm.202012871.
- Mirza-Schreiber, N., M. Zech, R. Wilson, T. Brunet, M. Wagner, R. Jech, S. Boesch, M. Skorvanek, J. Necpal, D. Weise, S. Weber, B. Mollenhauer, C. Trenkwalder, E. M. Maier, I. Borggraefe, K. Vill, A. Hackenberg, V. Pilshofer, U. Kotzaeridou, E. M. C. Schwaibold, J. Hoefele, M. Waldenberger, C. Gieger, A. Peters, T. Meitinger, B. Schormair, J. Winkelmann, and K. Oexle. "Blood DNA Methylation Provides an Accurate Biomarker of Kmt2b-Related Dystonia and Predicts Onset." Brain (Sep 30 2021). https://dx.doi.org/10.1093/brain/awab360.
- Moder, J. E., L. K. Ordenewitz, J. A. Schluter, T. Weinmann, P. Altebaumer, J. Jung, F. Heinen, and M. N. Landgraf. "[Fetal Alcohol Spectrum Disorders-Diagnosis, Prognosis, and Prevention]." Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 64, no. 6 (Jun 2021): 747-54. Fetale Alkoholspektrumstorungen - Diagnose, Prognose und Pravention. https://dx.doi.org/10.1007/s00103-021-03329-6.
- Muller-Felber, W., K. Vill, O. Schwartz, D. Glaser, U. Nennstiel, B. Wirth, S. Burggraf, W. Roschinger, M. Becker, J. Durner, K. Eggermann, C. Muller, I. Hannibal, B. Olgemoller, U. Schara, A. Blaschek, and H. Kolbel. "Erratum to "Infants Diagnosed with Spinal Muscular Atrophy and 4 Smn2 Copies through Newborn Screening - Opportunity or Burden?"." J Neuromuscul Dis 8, no. 2 (2021): 335-36. https://dx.doi.org/10.3233/JND-219002.
- Niestroj LM, Perez-Palma E, Howrigan DP, Zhou Y, Cheng F, Saarentaus E, Nürnberg P, Stevelink R, Daly MJ, Palotie A, Lal D; Epi25 Collaborative. Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. Brain. 2020 Jul 1;143(7):2106-2118. doi: 10.1093/brain/awaa171. PMID: 32568404; PMCID: PMC7364765. [Borggraefe I
- Obermeier, V., M. Murawski, F. Heinen, M. N. Landgraf, A. Straube, R. von Kries, and R. Ruscheweyh. "Total Health Insurance Costs in Children with a Migraine Diagnosis Compared to a Control Group." J Headache Pain 22, no. 1 (Nov 20 2021): 140. https://dx.doi.org/10.1186/s10194-021-01349-w.
- Olivieri, M., A. L. Sorg, R. Weinberger, K. Kurnik, C. Bidlingmaier, S. Juranek, F. Hoffmann, K. Reiter, M. Bonfert, M. Tacke, I. Borggraefe, F. Heinen, and L. Gerstl. "Recanalization Strategies in Childhood Stroke in Germany." Sci Rep 11, no. 1 (Jun 25 2021): 13314. https://dx.doi.org/10.1038/s41598-021-92533-0.
- Ordenewitz, L. K., T. Weinmann, J. A. Schluter, J. E. Moder, J. Jung, K. Kerber, N. Greif-Kohistani, F. Heinen, and M. N. Landgraf. "Evidence-Based Interventions for Children and Adolescents with Fetal Alcohol Spectrum Disorders - a Systematic Review." Eur J Paediatr Neurol 33 (Jul 2021): 50-60. https://dx.doi.org/10.1016/j.ejpn.2021.02.001.
- Pelletier, F., and S. Perrier, and F. K. Cayami, and A. Mirchi, and S. Saikali, and L. T. Tran, and N. Ulrick, and K. Guerrero, and E. Rampakakis, and R. M. L. van Spaendonk, and S. Naidu, and D. Pohl, and W. T. Gibson, and M. Demos, and C. Goizet, and I. Tejera-Martin, and A. Potic, and B. L. Fogel, and B. Brais, and M. Sylvain, and G. Sebire, and C. M. Lourenco, and J. L. Bonkowsky, and C. Catsman-Berrevoets, and P. S. Pinto, and S. Tirupathi, and P. Stromme, and T. de Grauw, and D. Gieruszczak-Bialek, and I. Krageloh-Mann, and H. Mierzewska, and H. Philippi, and J. Rankin, and T. Atik, and B. Banwell, and W. S. Benko, and A. Blaschek, and A. Bley, and E. Boltshauser, and D. Bratkovic, and K. Brozova, and I. Cimas, and C. Clough, and B. Corenblum, and A. Dinopoulos, and G. Dolan, and F. Faletra, and R. Fernandez, and J. Fletcher, and M. E. Garcia Garcia, and P. Gasparini, and J. Gburek-Augustat, and D. Gonzalez Moron, and A. Hamati, and I. Harting, and C. Hertzberg, and A. Hill, and G. M. Hobson, and A. M. Innes, and M. Kauffman, and S. M. Kirwin, and G. Kluger, and P. Kolditz, and U. Kotzaeridou, and R. La Piana, and E. Liston, and W. McClintock, and M. McEntagart, and F. McKenzie, and S. Melancon, and A. Misbahuddin, and M. Suri, and F. I. Monton, and S. Moutton, and R. P. J. Murphy, and M. Nickel, and H. Onay, and S. Orcesi, and F. Ozkinay, and S. Patzer, and H. Pedro, and S. Pekic, and M. Pineda Marfa, and A. Pizzino, and B. Plecko, and B. T. Poll-The, and V. Popovic, and D. Rating, and M. F. Rioux, and N. Rodriguez Espinosa, and A. Ronan, and J. R. Ostergaard, and E. Rossignol, and R. Sanchez-Carpintero, and A. Schossig, and N. Senbil, and L. K. Sonderberg Roos, and C. A. Stevens, and M. Synofzik, and L. Sztriha, and D. Tibussek, and D. Timmann, and D. Tonduti, and B. P. van de Warrenburg, and M. Vazquez-Lopez, and S. Venkateswaran, and P. Wasling, and E. Wassmer, and R. I. Webster, and G. Wiegand, and G. Yoon, and J. Rotteveel, and R. Schiffmann, and M. S. van der Knaap, and A. Vanderver, and G. A. Martos-Moreno, and C. Polychronakos, and N. I. Wolf, and G. Bernard. "Endocrine and Growth Abnormalities in 4h Leukodystrophy Caused by Variants in Polr3a, Polr3b, and Polr1c." J Clin Endocrinol Metab 106, no. 2 (Jan 23 2021): e660-e74. https://dx.doi.org/10.1210/clinem/dgaa700.
- Petrera, A., C. von Toerne, J. Behler, C. Huth, B. Thorand, A. Hilgendorff, and S. M. Hauck. "Multiplatform Approach for Plasma Proteomics: Complementarity of Olink Proximity Extension Assay Technology to Mass Spectrometry-Based Protein Profiling." J Proteome Res 20, no. 1 (Jan 1 2021): 751-62. https://dx.doi.org/10.1021/acs.jproteome.0c00641.
- Quan, A. S., J. Brunner, B. Rose, M. Smitka, G. Hahn, C. E. Pain, R. Hafner, F. Speth, L. Gerstl, and C. M. Hedrich. "Diagnosis and Treatment of Angiography Positive Medium to Large Vessel Childhood Primary Angiitis of Central Nervous System (P-Cpacns): An International Survey." Front Pediatr 9 (2021): 654537. https://dx.doi.org/10.3389/fped.2021.654537.
- Riedhammer, K. M., S. Stockler, R. Ploski, M. Wenzel, B. Adis-Dutschmann, U. Ahting, B. Alhaddad, A. Blaschek, T. B. Haack, R. Kopajtich, J. Lee, V. Murcia Pienkowski, A. Pollak, K. Szymanska, M. Tarailo-Graovac, R. van der Lee, C. D. van Karnebeek, T. Meitinger, I. Krageloh-Mann, and K. Vill. "De Novo Stop-Loss Variants in Cldn11 Cause Hypomyelinating Leukodystrophy." Brain 144, no. 2 (Mar 3 2021): 411-19. https://dx.doi.org/10.1093/brain/awaa410.
- Ruiz Brunner MLM, Cieri ME, Rodriguez Marco MP, Schroeder AS, Cuestas E. Estado nutricional de niños y niñas con parálisis cerebral que asisten a centros de rehabilitación. Dev Med Child Neurol. 2020 Oct 5. doi: 10.1111/dmcn.14680. Epub ahead of print. PMID: 33017056.
- Saffari, A., C. Cannet, A. Blaschek, A. Hahn, G. F. Hoffmann, J. Johannsen, R. Kirsten, M. Kockaya, S. Kolker, W. Muller-Felber, A. Roos, H. Schafer, U. Schara, M. Spraul, F. K. Trefz, K. Vill, W. Wick, M. Weiler, J. G. Okun, and A. Ziegler. "(1)H-Nmr-Based Metabolic Profiling Identifies Non-Invasive Diagnostic and Predictive Urinary Fingerprints in 5q Spinal Muscular Atrophy." Orphanet J Rare Dis 16, no. 1 (Oct 20 2021): 441. https://dx.doi.org/10.1186/s13023-021-02075-x.
- Sollmann, N., P. Schandelmaier, D. Weidlich, C. Borner, G. Urban, M. Lang, C. Zimmer, D. C. Karampinos, M. N. Landgraf, F. Heinen, T. Baum, and M. V. Bonfert. "Patients with Episodic Migraine Show Increased T2 Values of the Trapezius Muscles - an Investigation by Quantitative High-Resolution Magnetic Resonance Imaging." Cephalalgia 41, no. 8 (Jul 2021): 934-42. https://dx.doi.org/10.1177/0333102421996374.
- Sorg, A. L., M. Klemme, R. von Kries, U. Felderhoff-Muser, A. W. Flemmer, L. Gerstl, and M. Dzietko. "Clinical Diversity of Cerebral Sinovenous Thrombosis and Arterial Ischaemic Stroke in the Neonate: A Surveillance Study." Neonatology 118, no. 5 (2021): 530-36. https://dx.doi.org/10.1159/000512526.
- Sorg, A. L., R. Von Kries, M. Klemme, L. Gerstl, A. Beyerlein, N. Lack, U. Felderhoff-Muser, and M. Dzietko. "Incidence and Risk Factors of Cerebral Sinovenous Thrombosis in Infants." Dev Med Child Neurol 63, no. 6 (Jun 2021): 697-704. https://dx.doi.org/10.1111/dmcn.14816.
- Sorg, A. L., R. von Kries, M. Klemme, L. Gerstl, U. Felderhoff-Muser, and M. Dzietko. "Incidence Estimates of Perinatal Arterial Ischemic Stroke in Preterm- and Term-Born Infants: A National Capture-Recapture Calculation Corrected Surveillance Study." Neonatology 118, no. 6 (2021): 727-33. https://dx.doi.org/10.1159/000514922.
- Sucre, J., L. Haist, C. E. Bolton, and A. Hilgendorff. "Early Changes and Indicators Characterizing Lung Aging in Neonatal Chronic Lung Disease." Front Med (Lausanne) 8 (2021): 665152. https://dx.doi.org/10.3389/fmed.2021.665152.
- Tacke M, K. Janson, K. Vill, F. Heinen, L. Gerstl, K. Reiter, J. Remi, and I. Borggraefe. "The Influence of Information About the Circumstances of Eeg Recordings on the Ability to Identify Seizure Patterns." Seizure 88 (May 2021): 125-29. https://dx.doi.org/10.1016/j.seizure.2021.04.005.
- Tacke M, Kochs EF, Mueller M, Kramer S, Jordan D, Schneider G. Machine learning for a combined electroencephalographic anesthesia index to detect awareness under anesthesia. PLoS One. 2020 Aug 26;15(8):e0238249. doi: 10.1371/journal.pone.0238249. PMID: 32845935; PMCID: PMC7449480.
- Twisselmann, N., J. Pagel, A. Kunstner, M. Weckmann, A. Hartz, K. Glaser, A. Hilgendorff, W. Gopel, H. Busch, E. Herting, J. B. Weinberg, and C. Hartel. "Hyperoxia/Hypoxia Exposure Primes a Sustained Pro-Inflammatory Profile of Preterm Infant Macrophages Upon Lps Stimulation." Front Immunol 12 (2021): 762789. https://dx.doi.org/10.3389/fimmu.2021.762789.
- Vill, K., W. Muller-Felber, T. Landfarth, C. Koppl, N. Herzig, C. Knerr, H. Holla, G. Steidle, E. Harms, K. Hohenfellner, and Group Interdisciplinary Cystinosis. "Neuromuscular Conditions and the Impact of Cystine-Depleting Therapy in Infantile Nephropathic Cystinosis: A Cross-Sectional Analysis of 55 Patients." J Inherit Metab Dis (Dec 8 2021). https://dx.doi.org/10.1002/jimd.12464.
- Vill, K., O. Schwartz, A. Blaschek, D. Glaser, U. Nennstiel, B. Wirth, S. Burggraf, W. Roschinger, M. Becker, L. Czibere, J. Durner, K. Eggermann, B. Olgemoller, E. Harms, U. Schara, H. Kolbel, and W. Muller-Felber. "Newborn Screening for Spinal Muscular Atrophy in Germany: Clinical Results after 2 Years." Orphanet J Rare Dis 16, no. 1 (Mar 31 2021): 153. https://dx.doi.org/10.1186/s13023-021-01783-8.
- Weinmann, T., J. E. Moder, L. K. Ordenewitz, J. Schlueter, J. Jung, K. Kerber, R. M. Giese, F. Kusser, I. Hannibal, F. Heinen, and M. N. Landgraf. "Assessing the Needs of Caregivers of Children and Adolescents with Fetal Alcohol Spectrum Disorders: Results from a Survey among Families and Professionals in Germany." Eur J Paediatr Neurol 33 (Jul 2021): 1-8. https://dx.doi.org/10.1016/j.ejpn.2021.04.008.
- Willimsky, E. K., A. Munzig, K. Mayer, S. Biskup, A. Abicht, K. Hoertnagel, H. V. Voss, H. G. Klein, I. Rost, L. H. G. Larsen, H. A. Dahl, H. Hoelz, C. V. Stuelpnagel, and I. Borggraefe. "Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters." Neuropediatrics 52, no. 2 (Apr 2021): 92-97. https://dx.doi.org/10.1055/s-0040-1712488.
- Winheim, E., L. Rinke, K. Lutz, A. Reischer, A. Leutbecher, L. Wolfram, L. Rausch, J. Kranich, P. R. Wratil, J. E. Huber, D. Baumjohann, S. Rothenfusser, B. Schubert, A. Hilgendorff, J. C. Hellmuth, C. Scherer, M. Muenchhoff, M. von Bergwelt-Baildon, K. Stark, T. Straub, T. Brocker, O. T. Keppler, M. Subklewe, and A. B. Krug. "Impaired Function and Delayed Regeneration of Dendritic Cells in Covid-19." PLoS Pathog 17, no. 10 (Oct 2021): e1009742. https://dx.doi.org/10.1371/journal.ppat.1009742.
- Tacke, Moritz, and Wolfgang Müller-Felber. "Klinische Neurophysiologie auf der pädiatrischen Intensivstation." Klinische Neurophysiologie 52.03 (2021): 161-166.
- Victoria Lieftüchter, Univ.-Prof. Dr. Matthias Kieslich, Prof. Dr. Ingo Borggräfe, Dr. Moritz Tacke "Therapie des akuten epileptischen Anfalls beim Kind im Notfall." Notfall+ Rettungsmedizin (2021): 1-7.
- Willimsky, E. K., A. Munzig, K. Mayer, S. Biskup, A. Abicht, K. Hoertnagel, H. V. Voss, H. G. Klein, I. Rost, L. H. G. Larsen, H. A. Dahl, H. Hoelz, C. V. Stuelpnagel, and I. Borggraefe. "Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters." Neuropediatrics 52, no. 2 (Apr 2021): 92-97. https://dx.doi.org/10.1055/s-0040-1712488.
- Winheim, E., L. Rinke, K. Lutz, A. Reischer, A. Leutbecher, L. Wolfram, L. Rausch, J. Kranich, P. R. Wratil, J. E. Huber, D. Baumjohann, S. Rothenfusser, B. Schubert, A. Hilgendorff, J. C. Hellmuth, C. Scherer, M. Muenchhoff, M. von Bergwelt-Baildon, K. Stark, T. Straub, T. Brocker, O. T. Keppler, M. Subklewe, and A. B. Krug. "Impaired Function and Delayed Regeneration of Dendritic Cells in Covid-19." PLoS Pathog 17, no. 10 (Oct 2021): e1009742. https://dx.doi.org/10.1371/journal.ppat.1009742.
- Wortmann SB, Ziętkiewicz S, Guerrero-Castillo S, Feichtinger RG, Wagner M, Russell J, Ellaway C, Mróz D, Wyszkowski H, Weis D, Hannibal I, von Stülpnagel C, Cabrera-Orefice A, Lichter-Konecki U, Gaesser J, Windreich R, Myers KC, Lorsbach R, Dale RC, Gersting S, Prada CE, Christodoulou J, Wolf NI, Venselaar H, Mayr JA, Wevers RA. " Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLBP deficiency." Genet Med. 2021 Sep;23(9):1705-1714. https//doi.org/ 10.1038/s41436-021-01194-x.
- Accogli A, Wiegand G, Scala M, Cerminara C, Iacomino M, Riva A, Carlini B, Camerota L, Belcastro V, Prontera P, Fernández-Jaén A, Bebek N, Scudieri P, Baldassari S, Salpietro V, Novelli G, De Luca C, von Stülpnagel C, Kluger F, Kluger GJ, Wohlrab GC, Ramantani G, Lewis-Smith D, Thomas RH, Lai M, Verrotti A, Striano S, Depienne C, Minetti C, Benfenati F, Brancati F, Zara F, Striano P. " Clinical and Genetic Features in Patients with Reflex Bathing Epilepsy. " Neurology. 2021 Aug 10;97(6):e577-e586. https//doi.org/10.1212/WNL.0000000000012298.
- Hofmeister B, von Stülpnagel C, Betzler C, Mari F, Renieri A, Baldassarri M, Haberlandt E, Jansen K, Schilling S, Weber P, Ahlbory K, Tang S, Berweck S, Kluger G. " Epilepsy in Nicolaides Baraitser syndrome: review of literature and report of 25 patients focusing on treatment aspects." Neuropediatrics. 2021 Apr;52(2):109-122. https//doi.org/10.1055/s-0041-1722878.
- von Stülpnagel C, Kutschker S, Sperl W, Berweck S, Staudt M, Berndt M, Kluger G. "Childhood stroke: Long-term outcomes and health- related quality of life with special focus on the development of epilepsy." Neuropediatrics. 2021 Dec;52(6):469-474. https//doi.org/10.1055/s-0041-1731805.
- von Stülpnagel C, van Baalen A, Borggraefe I, Eschermann K, Hartlieb T, Kiwull L, Pringsheim M, Wollf M, Kudernatsch M, Wiegand G, Striano P, Kluger G and NETRE Consortium. " Network for Therapy in Rare Epilepsies (NETRE): Lessons from the last 15 years." Front Neurol. 2021 Jan 14;11:622510. https://doi.org/10.3389/fneur.2020.622510
- https://pubmed.ncbi.nlm.nih.gov/34930816/ (De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability)
- https://pubmed.ncbi.nlm.nih.gov/34907471/ (Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males )
- https://pubmed.ncbi.nlm.nih.gov/34140661/ (Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency)
- https://pubmed.ncbi.nlm.nih.gov/33677401/ ( Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B)
2018
Publikationen 2018
- Histopathological evaluation of duodenal biopsy in the PreventCD project. An observational interobserver agreement study.
- APMIS. 2018;126(3): 208-214 (Impact(2017)=2.026, Typ=Article; Journal Article; Randomized Controlled Trial; Multicenter Study; Observational Study) Villanacci V, Lorenzi L, Donato F, Auricchio R, Dziechciarz P, Gyimesi J, Koletzko S, Mi?ak Z, Laguna VM, Polanco I, Ramos D, Shamir R, Troncone R, Vriezinga SL, Mearin ML
- Benign epilepsy with centrotemporal spikes: Correlating spike frequency and neuropsychology. Acta Neurol Scand. 2018;138(6): 475-481 (Impact(2017)=3.126, Typ=Article; Journal Article) Tacke M, Rupp N, Gerstl L, Heinen F, Vill K, Bonfert M, Neubauer BA, Bast T, Borggraefe I, Further Members of the German HEAD Study Group , Baumeister FAM, Baethmann M, Schreiber-Gollwitzer B, Bentele K, Blank C, Held J, Blank HM, Liebrich K, Bode H, Braun J, Bosch F, Wagner R, Brandl U, Wetzel K, Brockmann K, Schlockwerder C, Dahlem P, Baudler I, Ernst JP, Mayer H, Feldmann E, Pattber-Wolff A, Fiedler A, Sonnleitner S, Gerigk M, Heß S, Feiereis T, Hikel C, Hoffmann HG, Rickeshenrich A, Kieslich M, Dewitz R, Baz Bartels M, Klepper J, Kleuker S, Kluger G, Kirsch A, Koch H, Meerpohl U, Koch W, Korinthenberg R, Stehle-Renner B, Krois I, Wegener A, Kühne H, Weiß C, Kurlemann G, Elkemann U, Mandl M, Friedl A, Mause U, Müller M, Navratil P, Iken U, Opp J, Walter J, Penzien J, Prietsch V, Siegrist B, Quattländer A, Rating D, Reuner G, Schara U, Shamdeen MG, Struchholz H, Prinz A, Wendker-Magrabi H, Stephani U, Muhle H, Carlsson G, Straßburg HM, Ottensmeier H, Töpke B, Tatsek K, Trollmann R, Poida-Herzing E, Tuschen-Hofstätter E, Menschig M, Waltz S, Pickartz A, Weber G, Gehnen T, Wien FU, Antemann J, Wolff M, Serra E, Polster T, Freitag H, Sönmez Ö, Rheinhardt K, Traus M, Chröder A, Hoovey S, Navratil C
- Monitoring and interventions are needed to reduce the very high Caesarean section rates in Vietnam. Acta Paediatr. 2018;107(12): 2109-2114 (Impact(2017)=2.58, Typ=Article; Journal Article) Giang HTN, Ulrich S, Tran HT, Bechtold-Dalla Pozza S
- Malignancy and mortality in paediatric-onset inflammatory bowel disease: a 3-year prospective, multinational study from the paediatric IBD Porto group of ESPGHAN. Aliment Pharmacol Ther. 2018;48(5): 523-537 (Impact(2017)=7.357, Typ=Article; Journal Article) Joosse ME, Aardoom MA, Kemos P, Turner D, Wilson DC, Koletzko S, Martin-de-Carpi J, Fagerberg UL, Spray C, Tzivinikos C, Sladek M, Shaoul R, Roma-Giannikou E, Bronsky J, Serban DE, Ruemmele FM, Garnier-Lengline H, Veres G, Hojsak I, Kolho KL, Davies IH, Aloi M, Lionetti P, Hussey S, Veereman G, Braegger CP, Trindade E, Wewer AV, Hauer AC, de Vries ACH, Sigall Boneh R, Sarbagili Shabat C, Levine A, de Ridder L, Paediatric IBD Porto group of ESPGHAN
- Response to treatment is more important than disease severity at diagnosis for prediction of early relapse in new-onset paediatric Crohn's disease. Aliment Pharmacol Ther. 2018;48(11-12): 1242-1250 (Impact(2017)=7.357, Typ=Article; Journal Article) Ziv-Baran T, Hussey S, Sladek M, Amil Dias J, Martin de Carpi J, Miele E, Veres G, Lionetti P, Koletzko S, Nuti F, Paerregaard A, Kolho KL, Russell RK, Shaoul R, Weiner D, Sigall Boneh R, Escher J, Finnby L, Turner D, Levine A
- Hygienic behavior and allergic sensitization in German adolescents. Allergy. 2018;73(9): 1915-1918 (Impact(2017)=6.048, Typ=Letter; Letter)
- Bowatte G, Markevych I, Standl M, Dharmage SC, Koletzko S, Lehmann I, Bauer CP, Schikowski T, von Berg A, Berdel D, Heinrich J
- Pregnancy and perinatal conditions and atopic disease prevalence in childhood and adulthood. Allergy. 2018;73(5): 1064-1074 (Impact(2017)=6.048, Typ=Article; Journal Article; Research Support, Non-U.S. Gov't) Gerlich J, Benecke N, Peters-Weist AS, Heinrich S, Roller D, Genuneit J, Weinmayr G, Windstetter D, Dressel H, Range U, Nowak D, von Mutius E, Radon K, Vogelberg C
- Protective effects of breastfeeding on respiratory symptoms in infants with 17q21 asthma risk variants. Allergy. 2018;73(12): 2388-2392 (Impact(2017)=6.048, Typ=Letter; Letter) Gorlanova O, Illi S, Toncheva AA, Usemann J, Latzin P, Kabesch M, Dalphin JC, Lauener R, Pekkanen JR, Von Mutius E, Riedler J, Kuehni CE, Röösli M, Frey U, BILD and PASTURE study groups , Anagnostopoulou P, Fuchs O, Korten I, Müller L, Proietti E, Schmidt A, Hyvärinen A, Karvonen A, Kirjavainen P, Remes S, Roponen M, Chauveau A, Dalphin ML, Kaulek V, Depner M, Ege M, Genuneit J, Loss G, Pfefferle P, Renz H, Schaub B, Braun-Fahrländer C, Frei R, Roduit C, Doekes G
- The association of fatty acid desaturase gene polymorphisms on long-chain polyunsaturated fatty acid composition in Indonesian infants.
- Am J Clin Nutr. 2018;108(5): 1135-1144 (Impact(2017)=6.549, Typ=Article; Journal Article) Tanjung C, Rzehak P, Sudoyo H, Mansyur M, Munasir Z, Immanuel S, Irawan R, Reischl E, Demmelmair H, Hadinegoro SR, Sjarif DR, Koletzko B
- Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. Am J Hum Genet. 2018;103(5): 817-825 (Impact(2017)=8.855, Typ=Article; Journal Article) Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovács-Nagy R, Gusic M, Graf E, Laugwitz L, Röblitz M, Wroblewski A, Hartmann H, Das AM, Bültmann E, Fang F, Xu M, Schatz UA, Karall D, Zellner H, Haberlandt E, Feichtinger RG, Mayr JA, Meitinger T, Prokisch H, Strom TM, P?oski R, Hoffmann GF, Pronicki M, Bonnen PE, Morlot S, Haack TB
- Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.
- Am J Hum Genet. 2018;103(1): 100-114 (Impact(2017)=8.855, Typ=Article; Journal Article) Xu Z, Lo WS, Beck DB, Schuch LA, Oláhová M, Kopajtich R, Chong YE, Alston CL, Seidl E, Zhai L, Lau CF, Timchak D, LeDuc CA, Borczuk AC, Teich AF, Juusola J, Sofeso C, Müller C, Pierre G, Hilliard T, Turnpenny PD, Wagner M, Kappler M, Brasch F, Bouffard JP, Nangle LA, Yang XL, Zhang M, Taylor RW, Prokisch H, Griese M, Chung WK, Schimmel P
- Cell-surface phenotyping identifies CD36 and CD97 as novel markers of fibroblast quiescence in lung fibrosis. Am J Physiol Lung Cell Mol Physiol. 2018;315(5): L682-L696 (Impact(2017)=4.092, Typ=Article; Journal Article) Heinzelmann K, Lehmann M, Gerckens M, Noskovi?ová N, Frankenberger M, Lindner M, Hatz R, Behr J, Hilgendorff A, Königshoff M, Eickelberg O
- Activation of the NF-?B pathway alters the phenotype of MSCs in the tracheal aspirates of preterm infants with severe BPD.
- Am J Physiol Lung Cell Mol Physiol. 2018;315(1): L87-L101 (Impact(2017)=4.092, Typ=Article; Journal Article) Reicherzer T, Häffner S, Shahzad T, Gronbach J, Mysliwietz J, Huebener C, Hasbargen U, Gertheiss J, Schulze A, Bellusci S, Morty RE, Hilgendorff A, Ehrhardt H
- Prenatal Markers of Asthma and Maternal Asthma Status. Am J Respir Cell Mol Biol. 2018;59(5): 529-530 (Impact(2017)=3.785, Typ=Editorial Material; Journal Article) Ege MJ
- Tezacaftor/Ivacaftor in Subjects with Cystic Fibrosis and F508del/F508del-CFTR or F508del/G551D-CFTR. Am J Respir Crit Care Med. 2018;197(2): 214-224 (Impact(2017)=15.239, Typ=Article; Journal Article) Donaldson SH, Pilewski JM, Griese M, Cooke J, Viswanathan L, Tullis E, Davies JC, Lekstrom-Himes JA, Wang LT, VX11-661-101 Study Group
- Early Identification of Bronchopulmonary Dysplasia Using Novel Biomarkers by Proteomic Screening. Am J Respir Crit Care Med. 2018;197(8): 1076-1080 (Impact(2017)=15.239, Typ=Letter; Journal Article) Förster K, Sass S, Ehrhardt H, Mous DS, Rottier RJ, Oak P, Schulze A, Flemmer AW, Gronbach J, Hübener C, Desai T, Eickelberg O, Theis FJ, Hilgendorff A
- [Reduction of treatment time for children in the trauma room care : Impact of implementation of an interdisciplinary trauma room concept (iTRAP)]. Anaesthesist. 2018;67(12): 914-921 (Impact(2017)=0.995, Typ=Article; Journal Article; English Abstract) Lehner M, Hoffmann F, Kammer B, Heinrich M, Falkenthal L, Wendling-Keim D, Kurz M
- A multinational survey on the infrastructural quality of paediatric intensive care units. Ann Intensive Care. 2018;8(1): 105 (Impact(2017)=3.771, Typ=Article; Journal Article) Warncke G, Hoffmann F, Sasse M, Singer G, Szilagyi I, Till H, Castellani C
- Newborn screening: A disease-changing intervention for glutaric aciduria type 1. Ann Neurol. 2018;83(5): 970-979 (Impact(2017)=10.244, Typ=Article; Journal Article) Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer J, Hoffmann GF, Mühlhausen C, Maier EM, Ensenauer R, Garbade SF, Kölker S
- Glutamate Supply and Metabolism in Infants. Ann Nutr Metab. 2018;73 Suppl 5: 29-35 (Impact(2017)=3.051, Typ=Review; Journal Article; Review) Koletzko B
- In silico validation of the Autoinflammatory Disease Damage Index. Ann Rheum Dis. 2018;77(11): 1599-1605 (Impact(2017)=12.35, Typ=Article; Journal Article) Ter Haar NM, van Delft ALJ, Annink KV, van Stel H, Al-Mayouf SM, Amaryan G, Anton J, Barron KS, Benseler S, Brogan PA, Cantarini L, Cattalini M, Cochino AV, de Benedetti F, Dedeoglu F, de Jesus AA, Demirkaya E, Dolezalova P, Durrant KL, Fabio G, Gallizzi R, Goldbach-Mansky R, Hachulla E, Hentgen V, Herlin T, Hofer M, Hoffman HM, Insalaco A, Jansson AF, Kallinich T, Kone-Paut I, Kozlova A, Kuemmerle-Deschner JB, Lachmann HJ, Laxer RM, Martini A, Nielsen S, Nikishina I, Ombrello AK, Özen S, Papadopoulou-Alataki E, Quartier P, Rigante D, Russo R, Simon A, Trachana M, Uziel Y, Ravelli A, Schulert G, Gattorno M, Frenkel J
- Antibiotic use on paediatric inpatients in a teaching hospital in the Gambia, a retrospective study. Antimicrob Resist Infect Control. 2018;7: 82 (Impact(2017)=3.568, Typ=Article; Journal Article) Chaw PS, Schlinkmann KM, Raupach-Rosin H, Karch A, Pletz MW, Huebner J, Nyan O, Mikolajczyk R
- Laryngeal closure impedes non-invasive ventilation at birth. Arch Dis Child Fetal Neonatal Ed. 2018;103(2): F112-F119 (Impact(2017)=3.953, Typ=Article; Journal Article) Crawshaw JR, Kitchen MJ, Binder-Heschl C, Thio M, Wallace MJ, Kerr LT, Roehr CC, Lee KL, Buckley GA, Davis PG, Flemmer A, Te Pas AB, Hooper SB
- Multicenter Experience With Mechanical Circulatory Support Using a New Diagonal Pump in 233 Children. Artif Organs. 2018;42(4): 377-385 (Impact(2017)=2.111, Typ=Article; Proceedings Paper; Journal Article; Multicenter Study) Stiller B, Houmes RJ, Rüffer A, Kumpf M, Müller A, Kipfmüller F, Köditz H, Herber Jonat S, Schmoor C, Benk C, Tibboel D, Fleck T
- Placental lipid droplet composition: Effect of a lifestyle intervention (UPBEAT) in obese pregnant women. BBA - MOL CELL BIOL L. 2018;1863(9): 998-1005 (Impact(2017)=4.966, Typ=Article; Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't) Gázquez A, Uhl O, Ruíz-Palacios M, Gill C, Patel N, Koletzko B, Poston L, Larqué E, UPBEAT consortium
- Gestational weight gain charts for different body mass index groups for women in Europe, North America, and Oceania. BMC Med. 2018;16(1): 201 (Impact(2017)=9.088, Typ=Article; Journal Article) Santos S, Eekhout I, Voerman E, Gaillard R, Barros H, Charles MA, Chatzi L, Chevrier C, Chrousos GP, Corpeleijn E, Costet N, Crozier S, Doyon M, Eggesbø M, Fantini MP, Farchi S, Forastiere F, Gagliardi L, Georgiu V, Godfrey KM, Gori D, Grote V, Hanke W, Hertz-Picciotto I, Heude B, Hivert MF, Hryhorczuk D, Huang RC, Inskip H, Jusko TA, Karvonen AM, Koletzko B, Küpers LK, Lagström H, Lawlor DA, Lehmann I, Lopez-Espinosa MJ, Magnus P, Majewska R, Mäkelä J, Manios Y, McDonald SW, Mommers M, Morgen CS, Moschonis G, Murínová ?, Newnham J, Nohr EA, Andersen AN, Oken E, Oostvogels AJJM, Pac A, Papadopoulou E, Pekkanen J, Pizzi C, Polanska K, Porta D, Richiardi L, Rifas-Shiman SL, Roeleveld N, Santa-Marina L, Santos AC, Smit HA, Sørensen TIA, Standl M, Stanislawski M, Stoltenberg C, Thiering E, Thijs C, Torrent M, Tough SC, Trnovec T, van Gelder MMHJ, van Rossem L, von Berg A, Vrijheid M, Vrijkotte TGM, Zvinchuk O, van Buuren S, Jaddoe VWV
- Fatty fish intake and cognitive function: FINS-KIDS, a randomized controlled trial in preschool children. BMC Med. 2018;16(1): 41 (Impact(2017)=9.088, Typ=Article; Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't) Øyen J, Kvestad I, Midtbø LK, Graff IE, Hysing M, Stormark KM, Markhus MW, Baste V, Frøyland L, Koletzko B, Demmelmair H, Dahl L, Lie Ø, Kjellevold M
- Correction to: The all age asthma cohort (ALLIANCE) - from early beginnings to chronic disease: a longitudinal cohort study. BMC Pulm Med. 2018;18(1): 165 (Impact(2017)=2.721, Typ=Correction; Journal Article; PUBLISHED ERRATUM) Fuchs O, Bahmer T, Weckmann M, Dittrich AM, Schaub B, Rösler B, Happle C, Brinkmann F, Ricklefs I, König IR, Watz H, Rabe KF, Kopp MV, Hansen G, von Mutius E, ALLIANCE Study Group as part of the German Centre for Lung Research (DZL)
- The all age asthma cohort (ALLIANCE) - from early beginnings to chronic disease: a longitudinal cohort study. BMC Pulm Med. 2018;18(1): 140 (Impact(2017)=2.721, Typ=Article; Journal Article) Fuchs O, Bahmer T, Weckmann M, Dittrich AM, Schaub B, Rösler B, Happle C, Brinkmann F, Ricklefs I, König IR, Watz H, Rabe KF, Kopp MV, Hansen G, von Mutius E, ALLIANCE Study Group as part of the German Centre for Lung Research (DZL)
- Pathogenesis, imaging and clinical characteristics of CF and non-CF bronchiectasis. BMC Pulm Med. 2018;18(1): 79 (Impact(2017)=2.721, Typ=Review; Journal Article; Review) Schäfer J, Griese M, Chandrasekaran R, Chotirmall SH, Hartl D
- Greenness and job-related chronic stress in young adults: a prospective cohort study in Germany. BMJ Open. 2018;8(6): e021599 (Impact(2017)=2.413, Typ=Article; Journal Article) Herrera R, Markevych I, Berger U, Genuneit J, Gerlich J, Nowak D, Schlotz W, Vogelberg C, von Mutius E, Weinmayr G, Windstetter D, Weigl M, Heinrich J, Radon K
- Lipids in human milk. Best Pract Res Clin Endocrinol Metab. 2018;32(1): 57-68 (Impact(2017)=4.417, Typ=Article; Journal Article; Review; Research Support, Non-U.S. Gov't) Demmelmair H, Koletzko B
- Haploidentical Stem Cell Transplantation for Refractory/Relapsed Neuroblastoma. Biol Blood Marrow Transplant. 2018;24(5): 1005-1012 (Impact(2017)=4.484, Typ=Article; Journal Article) Illhardt T, Toporski J, Feuchtinger T, Turkiewicz D, Teltschik HM, Ebinger M, Schwarze CP, Holzer U, Lode HN, Albert MH, Gruhn B, Urban C, Dykes JH, Teuffel O, Schumm M, Handgretinger R, Lang P
- Low incidence of symptomatic osteonecrosis after allogeneic HSCT in children with high-risk or relapsed ALL - results of the ALL-SCT 2003 trial. Br J Haematol. 2018;183(1): 104-109 (Impact(2017)=5.128, Typ=Article; Journal Article) Kuhlen M, Bader P, Sauer M, Albert MH, Gruhn B, Güngör T, Kropshofer G, Lang P, Lawitschka A, Metzler M, Pentek F, Rossig C, Schlegel PG, Schrappe M, Schrum J, Schulz A, Schwinger W, von Stackelberg A, Strahm B, Suttorp M, Luettichau IT, Wößmann W, Borkhardt A, Meisel R, Poetschger U, Glogova E, Peters C
- CD34 selected stem cell boosts can improve poor graft function after paediatric allogeneic stem cell transplantation. Br J Haematol. 2018;180(1): 90-99 (Impact(2017)=5.128, Typ=Article; Journal Article) Mainardi C, Ebinger M, Enkel S, Feuchtinger T, Teltschik HM, Eyrich M, Schumm M, Rabsteyn A, Schlegel P, Seitz C, Schwarze CP, Müller I, Greil J, Bader P, Schlegel PG, Martin D, Holzer U, Döring M, Handgretinger R, Lang P
- SYT1-associated neurodevelopmental disorder: a case series. Brain. 2018;141(9): 2576-2591 (Impact(2017)=10.84, Typ=Article; Journal Article) Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, Owen D, Turner BJ, Boyd SG, Rossi M, Al-Raqad M, Elpeleg O, Peck D, Mancini GMS, Wilke M, Zollino M, Marangi G, Weigand H, Borggraefe I, Haack T, Stark Z, Sadedin S, Broad Center for Mendelian Genomics , Tan TY, Jiang Y, Gibbs RA, Ellingwood S, Amaral M, Kelley W, Kurian MA, Cousin MA, Raymond FL
- Breastfeeding rate and promotion in selected European countries Bundesgesundheitsblatt Gesundheitsforschung, Gesundheitsschutz. 2018;61(8): 926-936 (Impact(2017)=0.901, Typ=Article) Theurich MA, Weikert C, Abraham K, Koletzko B
- Resistance to Epigenetic-Targeted Therapy Engenders Tumor Cell Vulnerabilities Associated with Enhancer Remodeling. Cancer Cell. 2018;34(6): 922-938.e7 (Impact(2017)=22.844, Typ=Article; Journal Article) Iniguez AB, Alexe G, Wang EJ, Roti G, Patel S, Chen L, Kitara S, Conway A, Robichaud AL, Stolte B, Bandopadhayay P, Goodale A, Pantel S, Lee Y, Cheff DM, Hall MD, Guha R, Davis MI, Menard M, Nasholm N, Weiss WA, Qi J, Beroukhim R, Piccioni F, Johannessen C, Stegmaier K
- Induction of a central memory and stem cell memory phenotype in functionally active CD4 and CD8 CAR T cells produced in an automated good manufacturing practice system for the treatment of CD19 acute lymphoblastic leukemia. Cancer Immunol Immunother. 2018;67(7): 1053-1066 (Impact(2017)=4.225, Typ=Article; Proceedings Paper; Journal Article; Research Support, Non-U.S. Gov't) Blaeschke F, Stenger D, Kaeuferle T, Willier S, Lotfi R, Kaiser AD, Assenmacher M, Döring M, Feucht J, Feuchtinger T
- Neutrophil gelatinase-associated lipocalin reflects inflammation and is not a reliable renal biomarker in neonates and infants after cardiopulmonary bypass: a prospective case-control study. Cardiol Young. 2018;28(2): 243-251 (Impact(2017)=0.978, Typ=Article; Journal Article) Reiter K, Balling G, Bonelli V, Pabst von Ohain J, Braun SL, Ewert P, Ruf B
- Intimate Crosstalk in Lower Airways at the Beginning of Life. Cell Host Microbe. 2018;24(6): 758-759 (Impact(2017)=17.872, Typ=Editorial Material; Journal Article) von Mutius E
- Mapping Active Gene-Regulatory Regions in Human Repopulating Long-Term HSCs. Cell Stem Cell. 2018;23(1): 132-146.e9 (Impact(2017)=23.29, Typ=Article; Journal Article) Wünsche P, Eckert ESP, Holland-Letz T, Paruzynski A, Hotz-Wagenblatt A, Fronza R, Rath T, Gil-Farina I, Schmidt M, von Kalle C, Klein C, Ball CR, Herbst F, Glimm H
- Streamlined Synthesis and Evaluation of Teichoic Acid Fragments. Chemistry. 2018;24(16): 4014-4018 (Impact(2017)=5.16, Typ=Article; Journal Article) van der Es D, Berni F, Hogendorf WFJ, Meeuwenoord N, Laverde D, van Diepen A, Overkleeft HS, Filippov DV, Hokke CH, Huebner J, van der Marel GA, Codée JDC
- Water flow paths are hotspots for the dissemination of antibiotic resistance in soil. Chemosphere. 2018;193: 1198-1206 (Impact(2017)=4.427, Typ=Article; Journal Article) Lüneberg K, Prado B, Broszat M, Dalkmann P, Díaz D, Huebner J, Amelung W, López-Vidal Y, Siemens J, Grohmann E, Siebe C
- Examining Ecological Constraints on the Intergenerational Transmission of Attachment Via Individual Participant Data Meta-analysis. Child Dev. 2018;89(6): 2023-2037 (Impact(2017)=3.779, Typ=Article; Journal Article) Verhage ML, Fearon RMP, Schuengel C, van IJzendoorn MH, Bakermans-Kranenburg MJ, Madigan S, Roisman GI, Oosterman M, Behrens KY, Wong MS, Mangelsdorf S, Priddis LE, Brisch KH, Collaboration on Attachment Transmission Synthesis , Arnott B, Aviezer O, Bailey H, Behringer J, Bernier A, Cassibba R, Cassidy J, Coppola G, Costantini A, Cyr C, Dozier M, Ensink K, Finger B, Gojman S, Harder S, Hautamaki A, Hazen NL, Ierardi E, Jin MK, Jongenelen I, Leerkes EM, Lionetti F, Lyons-Ruth K, McMahon C, Meins E, Pace CS, Priddis L, Raby KL, Crugnola CR, Sagi-Schwartz A, Schoppe-Sullivan SJ, Steele H, Steele M, Tarabulsy GM, Vaever MS, Brice PJ, Castoro G, Costantino E, George C, Gloger-Tippelt G, Howes C, Jacobvitz D, Juffer F, Kazui M, Køppe S, Millán S, Murray L, Pederson DR, Simonelli A, Solomon J, Speranza AM, Teti DM, Ward MJ
- Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation. Clin EEG Neurosci. 2018;49(3): 187-191 (Impact(2017)=1.807, Typ=Article; Journal Article) Hoelz H, Coppenrath E, Hoertnagel K, Roser T, Tacke M, Gerstl L, Borggraefe I
- Modeling determinants of satisfaction with health care in youth with inflammatory bowel disease: a cross-sectional survey. Clin Epidemiol. 2018;10: 1289-1305 (Impact: liegt nicht vor, Typ=Article; Journal Article) Timmer A, de Sordi D, Menke E, Peplies J, Claßen M, Koletzko S, Otto-Sobotka F
- Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2. Clin Genet. 2018;94(5): 467-472 (Impact(2017)=3.512, Typ=Article; Journal Article) La??uthová P, Vill K, Erdem-Ozdamar S, Schröder JM, Topaloglu H, Horvath R, Müller-Felber W, Bansagi B, Schlotter-Weigel B, Gläser D, Neupauerová J, Sedlá?ková L, Stan?k D, Mazanec R, Weis J, Seeman P, Senderek J
- IPEX due to an exon 7 skipping FOXP3 mutation with autoimmune diabetes mellitus cured by selective T cell engraftment. Clin Immunol. 2018;191: 52-58 (Impact(2017)=3.557, Typ=Article; Journal Article) Magg T, Wiebking V, Conca R, Krebs S, Arens S, Schmid I, Klein C, Albert MH, Hauck F
- Adequate calcium intake during long periods improves bone mineral density in healthy children. Data from the Childhood Obesity Project. Clin Nutr. 2018;37(3): 890-896 (Impact(2017)=5.496, Typ=Article; Journal Article) Closa-Monasterolo R, Zaragoza-Jordana M, Ferré N, Luque V, Grote V, Koletzko B, Verduci E, Vecchi F, Escribano J, Childhood Obesity Project Group , Closa-Monasterolo R, Escribano J, Ferré N, Gispert-Llauradó M, Luque V, Rubio-Torrents C, Zaragoza-Jordana M, Beyer J, Fritsch M, Haile G, Handel U, Hannibal I, Koletzko B, Kreichauf S, Pawellek I, Schiess S, Verwied-Jorky S, von Kries R, Weber M, Dobrza?ska A, Gruszfeld D, Janas R, Wierzbicka A, Socha P, Stolarczyk A, Socha J, Carlier C, Dain E, Goyens P, Van Hees JN, Hoyos J, Langhendries JP, Martin F, Poncelet P, Xhonneux A, Perrin E, Agostoni C, Giovannini M, Dionigi AR, Riva E, Scaglioni S, Vecchi F, Verducci E
- A simple method for identification of misreporting of energy intake from infancy to school age: Results from a longitudinal study. Clin Nutr. 2018;37(3): 1053-1060 (Impact(2017)=5.496, Typ=Article; Journal Article) Gomes D, Luque V, Xhonneux A, Verduci E, Socha P, Koletzko B, Berger U, Grote V
- Maternal plasma n-3 and n-6 polyunsaturated fatty acids during pregnancy and features of fetal health: Fetal growth velocity, birth weight and duration of pregnancy. Clin Nutr. 2018;37(4): 1367-1374 (Impact(2017)=5.496, Typ=Article; Journal Article) Grootendorst-van Mil NH, Tiemeier H, Steenweg-de Graaff J, Koletzko B, Demmelmair H, Jaddoe VWV, Steegers EAP, Steegers-Theunissen RPM
- Micronutrient intake adequacy in children from birth to 8 years. Data from the Childhood Obesity Project. Clin Nutr. 2018;37(2): 630-637 (Impact(2017)=5.496, Typ=Article; Journal Article) Zaragoza-Jordana M, Closa-Monasterolo R, Luque V, Ferré N, Grote V, Koletzko B, Pawellek I, Verduci E, ReDionigi A, Socha J, Stolarczyk A, Poncelet P, Rousseaux D, Escribano J, Childhood Obesity Project Group , Closa-Monasterolo R, Escribano J, Ferré N, Gispert-Llauradó M, Rubio-Torrents C, Luque V, Zaragoza-Jordana M, Beyer J, Fritsch M, Haile G, Handel U, Hannibal I, Koletzko B, Kreichauf S, Pawellek I, Schiess S, Verwied-Jorky S, von Kries R, Weber M, Dobrza?ska A, Gruszfeld D, Janas R, Wierzbicka A, Socha P, Stolarczyk A, Socha J, Carlier C, Dain E, Goyens P, Van Hees JN, Hoyos J, Langhendries JP, Martin F, Poncelet P, Xhonneux A, Perrin E, Agostoni C, Giovannini M, Re Dionigi A, Riva E, Scaglioni S, Vecchi F, Verducci E
- Current clinical trials in paediatrics: Report of the ESPEN special interest group in paediatrics. Clin Nutr ESPEN. 2018;27: 75-78 (Impact: liegt nicht vor, Typ=Article; Journal Article) Eveleens RD, Gerasimidis K, Chourdakis M, Huysentruyt K, Koletzko B, Hulst JM, Joosten KFM
- Recruiting young pre-symptomatic children for a clinical trial in type 1 diabetes: Insights from the Fr1da insulin intervention study. Contemp Clin Trials Commun. 2018;11: 170-173 (Impact: liegt nicht vor, Typ=Article; Journal Article) Kick K, Assfalg R, Aydin S, Bechtold-Dalla Pozza S, Böcker D, Braig S, Bunk M, Dunstheimer D, Durmashkina A, Ermer U, Gavazzeni A, Gerstl EM, Heinrich M, Herbst M, Kriesen Y, Kuhnle-Krahl U, Müller H, Nellen-Hellmuth N, Ockert C, Ramminger C, Sindichakis M, Tretter S, Warncke K, Achenbach P, Ziegler AG, Hoffmann VS
- Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments. EMBO Mol Med. 2018;10(1): 1-3 (Impact(2017)=10.293, Typ=Editorial Material; Journal Article) Klein C, Gahl WA
- Ante-, peri- and postnatal factors associated with intraventricular hemorrhage in very premature infants. Early Hum Dev. 2018;116: 1-8 (Impact(2017)=2.025, Typ=Article; Journal Article) Poryo M, Boeckh JC, Gortner L, Zemlin M, Duppré P, Ebrahimi-Fakhari D, Wagenpfeil S, Heckmann M, Mildenberger E, Hilgendorff A, Flemmer AW, Frey G, Meyer S, PROGRESS study consortium and NGFN - Nationales Genomforschungsnetz Deutschland
- Maternal Smoking during Pregnancy and Early Childhood and Development of Asthma and Rhinoconjunctivitis - a MeDALL Project. Environ Health Perspect. 2018;126(4): 047005 (Impact(2017)=8.309, Typ=Article; Journal Article) Thacher JD, Gehring U, Gruzieva O, Standl M, Pershagen G, Bauer CP, Berdel D, Keller T, Koletzko S, Koppelman GH, Kull I, Lau S, Lehmann I, Maier D, Schikowski T, Wahn U, Wijga AH, Heinrich J, Bousquet J, Anto JM, von Berg A, Melén E, Smit HA, Keil T, Bergström A
- Greenspace seems protective of both high and low blood pressure among residents of an Alpine valley. Environ Int. 2018;121(Pt 1): 443-452 (Impact(2017)=7.297, Typ=Article; Journal Article) Dzhambov AM, Markevych I, Lercher P
- Urban upbringing and childhood respiratory and allergic conditions: A multi-country holistic study. Environ Res. 2018;161: 276-283 (Impact(2017)=4.732, Typ=Article; Journal Article; Research Support, Non-U.S. Gov't) Tischer C, Dadvand P, Basagana X, Fuertes E, Bergström A, Gruzieva O, Melen E, Berdel D, Heinrich J, Koletzko S, Markevych I, Standl M, Sugiri D, Cirugeda L, Estarlich M, Fernández-Somoano A, Ferrero A, Ibarlueza J, Lertxundi A, Tardón A, Sunyer J, Anto JM
- Air Pollution Exposure During Pregnancy and Symptoms of Attention Deficit and Hyperactivity Disorder in Children in Europe. Epidemiology. 2018;29(5): 618-626 (Impact(2017)=4.991, Typ=Article; Journal Article) Forns J, Sunyer J, Garcia-Esteban R, Porta D, Ghassabian A, Giorgis-Allemand L, Gong T, Gehring U, Sørensen M, Standl M, Sugiri D, Almqvist C, Andiarena A, Badaloní C, Beelen R, Berdel D, Cesaroni G, Charles MA, Eriksen KT, Estarlich M, Fernandez MF, Forhan A, Jaddoe VWV, Korek M, Lichtenstein P, Lertxundi A, Lopez-Espinosa MJ, Markevych I, de Nazelle A, Raaschou-Nielsen O, Nieuwenhuijsen M, Pérez-Lobato R, Philippat C, Slama R, Tiesler CMT, Verhulst FC, von Berg A, Vrijkotte T, Nybo Andersen AM, Heude B, Krämer U, Heinrich J, Tiemeier H, Forastiere F, Pershagen G, Brunekreef B, Guxens M
- Can polymorphisms in the fatty acid desaturase (FADS) gene cluster alter the effects of fish oil supplementation on plasma and erythrocyte fatty acid profiles? An exploratory study. Eur J Nutr. 2018;57(7): 2583-2594 (Impact(2017)=4.423, Typ=Article; Journal Article; Randomized Controlled Trial) Meldrum SJ, Li Y, Zhang G, Heaton AEM, D'Vaz N, Manz J, Reischl E, Koletzko BV, Prescott SL, Simmer K
- TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis. Eur J Paediatr Neurol. 2018;22(1): 72-81 (Impact(2017)=2.362, Typ=Article; Journal Article) Blaschek A, V Kries R, Lohse P, Huss K, Vill K, Belohradsky BH, Heinen F, Müller-Felber W, Kümpfel T
- Risk factors in childhood arterial ischaemic stroke: Findings from a population-based study in Germany. Eur J Paediatr Neurol. 2018;22(3): 380-386 (Impact(2017)=2.362, Typ=Article; Journal Article) Gerstl L, Weinberger R, von Kries R, Heinen F, Schroeder AS, Bonfert MV, Borggraefe I, Tacke M, Vill K, Landgraf MN, Kurnik K, Olivieri M
- Fetal alcohol spectrum disorders (FASD) - What we know and what we should know - The knowledge of German health professionals and parents. Eur J Paediatr Neurol. 2018;22(3): 507-515 (Impact(2017)=2.362, Typ=Article; Journal Article) Landgraf MN, Albers L, Rahmsdorf B, Vill K, Gerstl L, Lippert M, Heinen F
- Clinical and magnetic resonance imaging features of children, adolescents, and adults with a clinically isolated syndrome. Eur J Paediatr Neurol. 2018;22(6): 1087-1094 (Impact(2017)=2.362, Typ=Article; Journal Article) Milos RI, Szimacsek M, Leutmezer F, Rostasy K, Blaschek A, Karenfort M, Schimmel M, Pritsch M, Storm Van's Gravesande K, Weber M, Schmoeger M, Seidl R, Prayer D, Kornek B
- Children with migraine: Provocation of headache via pressure to myofascial trigger points in the trapezius muscle? - A prospective controlled observational study. Eur J Pain. 2018;22(2): 385-392 (Impact(2017)=2.991, Typ=Article; Journal Article) Landgraf MN, Biebl JT, Langhagen T, Hannibal I, Eggert T, Vill K, Gerstl L, Albers L, von Kries R, Straube A, Heinen F
- Chronic interstitial lung disease in children. Eur Respir Rev. 2018;27(147) (Impact: liegt nicht vor, Typ=Review; Journal Article; Review) Griese M
- Phenotypic Changes on Mycobacterium Tuberculosis-Specific CD4 T Cells as Surrogate Markers for Tuberculosis Treatment Efficacy. Front Immunol. 2018;9: 2247 (Impact(2017)=5.511, Typ=Article; Journal Article) Ahmed MIM, Ntinginya NE, Kibiki G, Mtafya BA, Semvua H, Mpagama S, Mtabho C, Saathoff E, Held K, Loose R, Kroidl I, Chachage M, von Both U, Haule A, Mekota AM, Boeree MJ, Gillespie SH, Hoelscher M, Heinrich N, Geldmacher C
- Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population. Front Immunol. 2018;9: 3146 (Impact(2017)=5.511, Typ=Journal Article) Al-Herz W, Chou J, Delmonte OM, Massaad MJ, Bainter W, Castagnoli R, Klein C, Bryceson YT, Geha RS, Notarangelo LD
- Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group. Front Immunol. 2018;9: 2912 (Impact(2017)=5.511, Typ=Review; Journal Article; Review) Bomken S, van der Werff Ten Bosch J, Attarbaschi A, Bacon CM, Borkhardt A, Boztug K, Fischer U, Hauck F, Kuiper RP, Lammens T, Loeffen J, Neven B, Pan-Hammarström Q, Quinti I, Seidel MG, Warnatz K, Wehr C, Lankester AC, Gennery AR
- Epstein-Barr Virus Smooth Muscle Tumors as Manifestation of Primary Immunodeficiency Disorders. Front Immunol. 2018;9: 368 (Impact(2017)=5.511, Typ=Review; Journal Article; Review) Magg T, Schober T, Walz C, Ley-Zaporozhan J, Facchetti F, Klein C, Hauck F
- The Phenotype and Treatment of WIP Deficiency: Literature Synopsis and Review of a Patient With Pre-transplant Serial Donor Lymphocyte Infusions to Eliminate CMV. Front Immunol. 2018;9: 2554 (Impact(2017)=5.511, Typ=Review; Journal Article; Review) Schwinger W, Urban C, Ulreich R, Sperl D, Karastaneva A, Strenger V, Lackner H, Boztug K, Albert MH, Benesch M, Seidel MG
- Childhood Stroke: Awareness, Interest, and Knowledge Among the Pediatric Community. Front Pediatr. 2018;6: 182 (Impact: liegt nicht vor, Typ=Article; Journal Article) Bonfert MV, Badura K, Gerstl J, Borggraefe I, Heinen F, Schroeder S, Olivieri M, Weinberger R, Landgraf MN, Vill K, Tacke M, Berweck S, Reiter K, Hoffmann F, Nicolai T, Gerstl L
- Permissive Hypercapnia Results in Decreased Functional Vessel Density in the Skin of Extremely Low Birth Weight Infants. Front Pediatr. 2018;6: 52 (Impact: liegt nicht vor, Typ=Article; Journal Article) Puchwein-Schwepcke AF, Schottmayer K, Mormanová Z, Dreyhaupt J, Genzel-Boroviczeny O, Thome UH
- Diet and Lifestyle Before and During Pregnancy - Practical Recommendations of the Germany-wide Healthy Start - Young Family Network Geburtshilfe Frauenheilkd. 2018;78(12): 1262-1282 (Impact(2017)=1.291, Typ=Review) Koletzko B, Cremer M, Flothkotter M, Graf C, Hauner H, Hellmers C, Kersting M, Krawinkel M, Przyrembel H, Robl-Mathieu M, Schiffner U, Vetter K, Weissenborn A, Wockel A
- Identification of co-occurrence in a patient with Dent's disease and ADA2-deficiency by exome sequencing. Gene. 2018;649: 23-26 (Impact(2017)=2.498, Typ=Article; Journal Article; Case Reports) Günthner R, Wagner M, Thurm T, Ponsel S, Höfele J, Lange-Sperandio B
- [Paediatrics in light of the Convention on the Rights of the Child]. Gesundheitswesen. 2018;80(2): 191-196 (Impact(2017)=0.993, Typ=Article; Journal Article; English Abstract) Klein C
- Prospects for research in haemophilia with real-world data-An analysis of German registry and secondary data. Haemophilia. 2018;24(4): 584-594 (Impact(2017)=2.768, Typ=Article; Journal Article) Schopohl D, Bidlingmaier C, Herzig D, Klamroth R, Kurnik K, Rublee D, Schramm W, Schwarzkopf L, Berger K
- Validation of the Haemophilia & Exercise Project-Test-Questionnaire (HEP-Test-Q)-An instrument for the assessment of subjective physical functioning in children with haemophilia. Haemophilia. 2018;24(6): 888-895 (Impact(2017)=2.768, Typ=Article; Journal Article) von Mackensen S, Hilberg T, Valentino LA, Kurnik K, Khair K
- SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. Hum Genet. 2018;137(11-12): 911-919 (Impact(2017)=3.93, Typ=Article; Journal Article) Vill K, Müller-Felber W, Gläser D, Kuhn M, Teusch V, Schreiber H, Weis J, Klepper J, Schirmacher A, Blaschek A, Wiessner M, Strom TM, Dräger B, Hofmeister-Kiltz K, Tacke M, Gerstl L, Young P, Horvath R, Senderek J
- Functional rescue of misfolding ABCA3 mutations by small molecular correctors. Hum Mol Genet. 2018;27(6): 943-953 (Impact(2017)=4.902, Typ=Article; Journal Article; Research Support, Non-U.S. Gov't) Kinting S, Höppner S, Schindlbeck U, Forstner ME, Harfst J, Wittmann T, Griese M
- ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes. Hum Mutat. 2018;39(6): 841-850 (Impact(2017)=5.359, Typ=Article; Journal Article) Schindlbeck U, Wittmann T, Höppner S, Kinting S, Liebisch G, Hegermann J, Griese M
- MHC II deficient infant identified by newborn screening program for SCID. Immunol Res. 2018;66(4): 537-542 (Impact(2017)=2.487, Typ=Article; Journal Article) Marcus N, Stauber T, Lev A, Simon AJ, Stein J, Broides A, Somekh I, Almashanu S, Somech R
- Early age exposure to moisture damage and systemic inflammation at the age of 6 years. Indoor Air. 2018;28(3): 450-458 (Impact(2017)=4.396, Typ=Article; Journal Article; Research Support, Non-U.S. Gov't) Karvonen AM, Tischer C, Kirjavainen PV, Roponen M, Hyvärinen A, Illi S, Mustonen K, Pfefferle PI, Renz H, Remes S, Schaub B, von Mutius E, Pekkanen J
- Assessment of the multiplex PCR-based assay Unyvero pneumonia application for detection of bacterial pathogens and antibiotic resistance genes in children and neonates. Infection. 2018;46(2): 189-196 (Impact(2017)=2.773, Typ=Article; Journal Article) Papan C, Meyer-Buehn M, Laniado G, Nicolai T, Griese M, Huebner J
- Partially Hydrolyzed Whey Infant Formula: Literature Review on Effects on Growth and the Risk of Developing Atopic Dermatitis in Infants from the General Population. Int Arch Allergy Immunol. 2018;177(2): 123-134 (Impact(2017)=2.437, Typ=Review; Journal Article; Review) Sauser J, Nutten S, de Groot N, Pecquet S, Simon D, Simon HU, Spergel JM, Koletzko S, Blanchard C
- Longitudinal analysis of physical activity, sedentary behaviour and anthropometric measures from ages 6 to 11 years. Int J Behav Nutr Phys Act. 2018;15(1): 126 (Impact(2017)=5.548, Typ=Article; Journal Article; Research Support, Non-U.S. Gov't) Schwarzfischer P, Gruszfeld D, Socha P, Luque V, Closa-Monasterolo R, Rousseaux D, Moretti M, Mariani B, Verduci E, Koletzko B, Grote V
- Daily Patterns of Preschoolers' Objectively Measured Step Counts in Six European Countries: Cross-Sectional Results from the ToyBox-Study. Int J Environ Res Public Health. 2018;15(2) (Impact(2017)=2.145, Typ=Article; Journal Article; Research Support, Non-U.S. Gov't; Comparative Study) Van Stappen V, Van Dyck D, Latomme J, De Bourdeaudhuij I, Moreno L, Socha P, Iotova V, Koletzko B, Manios Y, Androutsos O, Cardon G, De Craemer M
- Cohort Profile: Pregnancy And Childhood Epigenetics (PACE) Consortium. Int J Epidemiol. 2018;47(1): 22-23u (Impact(2017)=8.36, Typ=Article; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.; Research Support, N.I.H., Intramural) Felix JF, Joubert BR, Baccarelli AA, Sharp GC, Almqvist C, Annesi-Maesano I, Arshad H, Baïz N, Bakermans-Kranenburg MJ, Bakulski KM, Binder EB, Bouchard L, Breton CV, Brunekreef B, Brunst KJ, Burchard EG, Bustamante M, Chatzi L, Cheng Munthe-Kaas M, Corpeleijn E, Czamara D, Dabelea D, Davey Smith G, De Boever P, Duijts L, Dwyer T, Eng C, Eskenazi B, Everson TM, Falahi F, Fallin MD, Farchi S, Fernandez MF, Gao L, Gaunt TR, Ghantous A, Gillman MW, Gonseth S, Grote V, Gruzieva O, Håberg SE, Herceg Z, Hivert MF, Holland N, Holloway JW, Hoyo C, Hu D, Huang RC, Huen K, Järvelin MR, Jima DD, Just AC, Karagas MR, Karlsson R, Karmaus W, Kechris KJ, Kere J, Kogevinas M, Koletzko B, Koppelman GH, Küpers LK, Ladd-Acosta C, Lahti J, Lambrechts N, Langie SAS, Lie RT, Liu AH, Magnus MC, Magnus P, Maguire RL, Marsit CJ, McArdle W, Melén E, Melton P, Murphy SK, Nawrot TS, Nisticò L, Nohr EA, Nordlund B, Nystad W, Oh SS, Oken E, Page CM, Perron P, Pershagen G, Pizzi C, Plusquin M, Raikkonen K, Reese SE, Reischl E, Richiardi L, Ring S, Roy RP, Rzehak P, Schoeters G, Schwartz DA, Sebert S, Snieder H, Sørensen TIA, Starling AP, Sunyer J, Taylor JA, Tiemeier H, Ullemar V, Vafeiadi M, Van Ijzendoorn MH, Vonk JM, Vriens A, Vrijheid M, Wang P, Wiemels JL, Wilcox AJ, Wright RJ, Xu CJ, Xu Z, Yang IV, Yousefi P, Zhang H, Zhang W, Zhao S, Agha G, Relton CL, Jaddoe VWV, London SJ
- Asthmatic/wheezing phenotypes in preschool children: Influential factors, health care and urban-rural differences. Int J Hyg Environ Health. 2018;221(2): 293-299 (Impact(2017)=4.848, Typ=Article; Journal Article) Kutzora S, Weber A, Heinze S, Hendrowarsito L, Nennstiel-Ratzel U, von Mutius E, Fuchs N, Herr C, GME Study Group
- Effectiveness of vitamin D therapy in improving metabolomic biomarkers in obesity phenotypes: Two randomized clinical trials. Int J Obes (Lond). 2018;42(10): 1782-1796 (Impact(2017)=5.151, Typ=Article; Journal Article) Bagheri M, Djazayery A, Qi L, Yekaninejad MS, Chamari M, Naderi M, Ebrahimi Z, Koletzko B, Uhl O, Farzadfar F
- Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study. J Allergy Clin Immunol. 2018;141(3): 1036-1049.e5 (Impact(2017)=13.258, Typ=Article; Journal Article) Barzaghi F, Amaya Hernandez LC, Neven B, Ricci S, Kucuk ZY, Bleesing J, Nademi Z, Slatter MA, Ulloa ER, Shcherbina A, Roppelt A, Worth A, Silva J, Aiuti A, Murguia-Favela L, Speckmann C, Carneiro-Sampaio M, Fernandes JF, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Schulz A, Steinmann S, Notarangelo LD, Gambineri E, Lionetti P, Shearer WT, Forbes L, Martinez C, Moshous D, Blanche S, Fisher A, Ruemmele FM, Tissandier C, Ouachee-Chardin M, Rieux-Laucat F, Cavazzana M, Qasim W, Lucarelli B, Albert MH, Kobayashi I, Alonso L, Diaz De Heredia C, Kanegane H, Lawitschka A, Seo JJ, Gonzalez-Vicent M, Diaz MA, Goyal RK, Sauer MG, Yesilipek A, Kim M, Yilmaz-Demirdag Y, Bhatia M, Khlevner J, Richmond Padilla EJ, Martino S, Montin D, Neth O, Molinos-Quintana A, Valverde-Fernandez J, Broides A, Pinsk V, Ballauf A, Haerynck F, Bordon V, Dhooge C, Garcia-Lloret ML, Bredius RG, Ka?wak K, Haddad E, Seidel MG, Duckers G, Pai SY, Dvorak CC, Ehl S, Locatelli F, Goldman F, Gennery AR, Cowan MJ, Roncarolo MG, Bacchetta R, PIDTC and IEWP of EBMT
- Exposure to nonmicrobial N-glycolylneuraminic acid protects farmers' children against airway inflammation and colitis. J Allergy Clin Immunol. 2018;141(1): 382-390.e7 (Impact(2017)=13.258, Typ=Article; Journal Article) Frei R, Ferstl R, Roduit C, Ziegler M, Schiavi E, Barcik W, Rodriguez-Perez N, Wirz OF, Wawrzyniak M, Pugin B, Nehrbass D, Jutel M, Smolinska S, Konieczna P, Bieli C, Loeliger S, Waser M, Pershagen G, Riedler J, Depner M, Schaub B, Genuneit J, Renz H, Pekkanen J, Karvonen AM, Dalphin JC, van Hage M, Doekes G, Akdis M, Braun-Fahrländer C, Akdis CA, von Mutius E, O'Mahony L, Lauener RP, Prevention of Allergy Risk factors for Sensitization in Children Related to Farming and Anthroposophic Lifestyle (PARSIFAL) study group , Protection Against Allergy Study in Rural Environments (PASTURE)/Mechanisms of Early Protective Exposures on Allergy Development (EFRAIM) study group , Alfvén T, Alm J, Bergström A, Engstrand L, Rosenlund H, Hakansson N, Lilja G, Nyberg F, Swartz J, Wickman M, Wildhaber J, Möller A, Brunekreef B, Boeve M, Douwes J, Huber M, Gertraud Weiss MM, Schreue M, Michles KB, Sennhauser F, Scheynius A, Hirvonen MR, Remes S, Roponen M, Tiittanen P, Dalphin ML, Gisela Buchele VK, Ege M, Kabesch M, Pfefferle P, Loss G, Hyvärinen A
- Intrinsic and extrinsic causes of malignancies in patients with primary immunodeficiency disorders. J Allergy Clin Immunol. 2018;141(1): 59-68.e4 (Impact(2017)=13.258, Typ=Article; Journal Article) Hauck F, Voss R, Urban C, Seidel MG
- Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency. J Allergy Clin Immunol. 2018;141(3): 1060-1073.e3 (Impact(2017)=13.258, Typ=Article; Journal Article) Petersheim D, Massaad MJ, Lee S, Scarselli A, Cancrini C, Moriya K, Sasahara Y, Lankester AC, Dorsey M, Di Giovanni D, Bezrodnik L, Ohnishi H, Nishikomori R, Tanita K, Kanegane H, Morio T, Gelfand EW, Jain A, Secord E, Picard C, Casanova JL, Albert MH, Torgerson TR, Geha RS
- The neonatal window of opportunity-early priming for life. J Allergy Clin Immunol. 2018;141(4): 1212-1214 (Impact(2017)=13.258, Typ=Editorial Material; Editorial) Renz H, Adkins BD, Bartfeld S, Blumberg RS, Farber DL, Garssen J, Ghazal P, Hackam DJ, Marsland BJ, McCoy KD, Penders J, Prinz I, Verhasselt V, von Mutius E, Weiser JN, Wesemann DR, Hornef MW
- Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects. J Allergy Clin Immunol. 2018;142(6): 1932-1946 (Impact(2017)=13.258, Typ=Article; Journal Article) Schwab C, Gabrysch A, Olbrich P, Patiño V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom DM, Lucena JM, Seidl M, Schmitt-Graeff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz HM, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, van de Veerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, Dückers G, Niehues T, Fronkova E, Kanderová V, Platt CD, Chou J, Chatila TA, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Deyà-Martinez A, Hambleton S, Kanegane H, Taskén K, Neth O, Grimbacher B
- Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders. J Allergy Clin Immunol. 2018;141(1): 322-328.e10 (Impact(2017)=13.258, Typ=Article; Journal Article) Slack J, Albert MH, Balashov D, Belohradsky BH, Bertaina A, Bleesing J, Booth C, Buechner J, Buckley RH, Ouachée-Chardin M, Deripapa E, Drabko K, Eapen M, Feuchtinger T, Finocchi A, Gaspar HB, Ghosh S, Gillio A, Gonzalez-Granado LI, Grunebaum E, Güngör T, Heilmann C, Helminen M, Higuchi K, Imai K, Kalwak K, Kanazawa N, Karasu G, Kucuk ZY, Laberko A, Lange A, Mahlaoui N, Meisel R, Moshous D, Muramatsu H, Parikh S, Pasic S, Schmid I, Schuetz C, Schulz A, Schultz KR, Shaw PJ, Slatter MA, Sykora KW, Tamura S, Taskinen M, Wawer A, Wolska-Kus Nierz B, Cowan MJ, Fischer A, Gennery AR, Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies , Stem Cell Transplant for Immunodeficiencies in Europe (SCETIDE) , Center for International Blood and Marrow Transplant Research , Primary Immunodeficiency Treatment Consortium
- Farm dust reduces viral load in human bronchial epithelial cells by increasing barrier function and antiviral responses. J Allergy Clin Immunol. 2018;141(5): 1949-1952.e8 (Impact(2017)=13.258, Typ=Letter; Journal Article) van der Vlugt LEPM, Eger K, Müller C, Ninaber DK, Zarcone MC, Amatngalim GD, Bracher F, von Mutius E, Smits HH, Hiemstra PS
- Biodiversity: The new kid on the block? J Allergy Clin Immunol. 2018;141(4): 1215-1216 (Impact(2017)=13.258, Typ=Editorial Material; Editorial) von Mutius E
- Allogeneic stem cell transplantation in adolescents and young adults with primary immunodeficiencies. J Allergy Clin Immunol Pract. 2018;6(1): 298-301.e2 (Impact(2017)=6.966, Typ=Letter; Journal Article) Albert MH, Hauck F, Wiebking V, Aydin S, Notheis G, Koletzko S, Führer M, Tischer J, Klein C, Schmid I
- Cord Metabolic Profiles in Obese Pregnant Women: Insights Into Offspring Growth and Body Composition. J Clin Endocrinol Metab. 2018;103(1): 346-355 (Impact(2017)=5.789, Typ=Article; Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't) Patel N, Hellmuth C, Uhl O, Godfrey K, Briley A, Welsh P, Pasupathy D, Seed PT, Koletzko B, Poston L, UPBEAT Consortium
- The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2018;38(1): 129-143 (Impact(2017)=4.227, Typ=Article; Journal Article) Bousfiha A, Jeddane L, Picard C, Ailal F, Bobby Gaspar H, Al-Herz W, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Casanova JL, Sullivan KE
- Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12R?1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease. J Clin Immunol. 2018;38(7): 787-793 (Impact(2017)=4.227, Typ=Article; Journal Article) Nekooie-Marnany N, Deswarte C, Ostadi V, Bagherpour B, Taleby E, Ganjalikhani-Hakemi M, Le Voyer T, Rahimi H, Rosain J, Pourmoghadas Z, Sheikhbahaei S, Khoshnevisan R, Petersheim D, Kotlarz D, Klein C, Boisson-Dupuis S, Casanova JL, Bustamante J, Sherkat R
- International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol. 2018;38(1): 96-128 (Impact(2017)=4.227, Typ=Article; Journal Article) Picard C, Bobby Gaspar H, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Sullivan KE
- Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma. J Clin Immunol. 2018;38(6): 699-710 (Impact(2017)=4.227, Typ=Article; Journal Article) Somekh I, Marquardt B, Liu Y, Rohlfs M, Hollizeck S, Karakukcu M, Unal E, Yilmaz E, Patiroglu T, Cansever M, Frizinsky S, Vishnvenska-Dai V, Rechavi E, Stauber T, Simon AJ, Lev A, Klein C, Kotlarz D, Somech R
- Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency. J Clin Invest. 2018;128(7): 3071-3087 (Impact(2017)=13.251, Typ=Article; Journal Article) Boutboul D, Kuehn HS, Van de Wyngaert Z, Niemela JE, Callebaut I, Stoddard J, Lenoir C, Barlogis V, Farnarier C, Vely F, Yoshida N, Kojima S, Kanegane H, Hoshino A, Hauck F, Lhermitte L, Asnafi V, Roehrs P, Chen S, Verbsky JW, Calvo KR, Husami A, Zhang K, Roberts J, Amrol D, Sleaseman J, Hsu AP, Holland SM, Marsh R, Fischer A, Fleisher TA, Picard C, Latour S, Rosenzweig SD
- JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies. J Clin Invest. 2018;128(7): 3041-3052 (Impact(2017)=13.251, Typ=Article; Journal Article) Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y, Schalm S, Murias S, Dare JA, Brown D, Stone DL, Gao L, Klausmeier T, Foell D, de Jesus AA, Chapelle DC, Kim H, Dill S, Colbert RA, Failla L, Kost B, O'Brien M, Reynolds JC, Folio LR, Calvo KR, Paul SM, Weir N, Brofferio A, Soldatos A, Biancotto A, Cowen EW, Digiovanna JJ, Gadina M, Lipton AJ, Hadigan C, Holland SM, Fontana J, Alawad AS, Brown RJ, Rother KI, Heller T, Brooks KM, Kumar P, Brooks SR, Waldman M, Singh HK, Nickeleit V, Silk M, Prakash A, Janes JM, Ozen S, Wakim PG, Brogan PA, Macias WL, Goldbach-Mansky R
- Differences in Outcomes Over Time With Exclusive Enteral Nutrition Compared With Steroids in Children With Mild to Moderate Crohn's Disease: Results From the GROWTH CD Study. J Crohns Colitis. 2018;12(3): 306-312 (Impact(2017)=6.637, Typ=Article; Journal Article) Cohen-Dolev N, Sladek M, Hussey S, Turner D, Veres G, Koletzko S, Martin de Carpi J, Staiano A, Shaoul R, Lionetti P, Amil Dias J, Paerregaard A, Nuti F, Pfeffer Gik T, Ziv-Baran T, Ben Avraham Shulman S, Sarbagili Shabat C, Sigall Boneh R, Russell RK, Levine A
- Genome-scale CRISPR-Cas9 screen identifies druggable dependencies in wild-type Ewing sarcoma. J Exp Med. 2018;215(8): 2137-2155 (Impact(2017)=10.79, Typ=Article; Journal Article) Stolte B, Iniguez AB, Dharia NV, Robichaud AL, Conway AS, Morgan AM, Alexe G, Schauer NJ, Liu X, Bird GH, Tsherniak A, Vazquez F, Buhrlage SJ, Walensky LD, Stegmaier K
- Evaluation of serum extracellular vesicle isolation methods for profiling miRNAs by next-generation sequencing. J Extracell Vesicles. 2018;7(1): 1481321 (Impact: liegt nicht vor, Typ=Article; Journal Article) Buschmann D, Kirchner B, Hermann S, Märte M, Wurmser C, Brandes F, Kotschote S, Bonin M, Steinlein OK, Pfaffl MW, Schelling G, Reithmair M
- Role of antimicrobial stewardship programmes in children: a systematic review. J Hosp Infect. 2018;99(2): 117-123 (Impact(2017)=3.354, Typ=Review; Journal Article; Review) Araujo da Silva AR, Albernaz de Almeida Dias DC, Marques AF, Biscaia di Biase C, Murni IK, Dramowski A, Sharland M, Huebner J, Zingg W
- STAT1 Gain-of-Function and Dominant Negative STAT3 Mutations Impair IL-17 and IL-22 Immunity Associated with CMC. J Invest Dermatol. 2018;138(3): 711-714 (Impact(2017)=6.448, Typ=Letter; Journal Article) Hiller J, Hagl B, Effner R, Puel A, Schaller M, Mascher B, Eyerich S, Eyerich K, Jansson AF, Ring J, Casanova JL, Renner ED, Traidl-Hoffmann C
- Correction to: Advanced Robotic Therapy Integrated Centers (ARTIC): an international collaboration facilitating the application of rehabilitation technologies. J Neuroeng Rehabil. 2018;15(1): 36 (Impact(2017)=3.865, Typ=Correction; PUBLISHED ERRATUM) van Hedel HJA, Severini G, Scarton A, O'Brien A, Reed T, Gaebler-Spira D, Egan T, Meyer-Heim A, Graser J, Chua K, Zutter D, Schweinfurther R, Möller JC, Paredes LP, Esquenazi A, Berweck S, Schroeder S, Warken B, Chan A, Devers A, Petioky J, Paik NJ, Kim WS, Bonato P, Boninger M, ARTIC network , Fabara E, Adans-Dester C, O'Brien Murby J, Laliberte L, Revivo G, Lee S, Toczylowski T, Chan KF, Wee SK, Lim PH, Lim WS, Wang JYY, Lee WK, Ong CN, Ong CH, Pereira CC, Lee SY, Dewor A, Urban M, Aurich T, Lucic A, Nastulla T, Badura K, Steinbichler J, Ji M, Oh Y, Calabrò RS, van Hiel L, Spiess M, Lünenburger L, Colombo G, Maier I
- Advanced Robotic Therapy Integrated Centers (ARTIC): an international collaboration facilitating the application of rehabilitation technologies. J Neuroeng Rehabil. 2018;15(1): 30 (Impact(2017)=3.865, Typ=Article; Journal Article) van Hedel HJA, Severini G, Scarton A, O'Brien A, Reed T, Gaebler-Spira D, Egan T, Meyer-Heim A, Graser J, Chua K, Zutter D, Schweinfurther R, Möller JC, Paredes LP, Esquenazi A, Berweck S, Schroeder S, Warken B, Chan A, Devers A, Petioky J, Paik NJ, Kim WS, Bonato P, Boninger M, ARTIC network , Fabara E, Adans-Dester C, O'Brien Murby J, Laliberte L, Revivo G, Lee S, Toczylowski T, Chan KF, Wee SK, Lim PH, Lim WS, Wang JYY, Lee WK, Ong CN, Ong CH, Pereira CC, Lee SY, Dewor A, Urban M, Aurich T, Lucic A, Nastulla T, Badura K, Steinbichler J, Ji M, Oh Y, Calabrò RS, van Hiel L, Spiess M, Lünenburger L, Colombo G, Maier I, Heinen F, Borggraefe I, Koenig H, Weinberger R
- MRI of the first event in pediatric acquired demyelinating syndromes with antibodies to myelin oligodendrocyte glycoprotein. J Neurol. 2018;265(4): 845-855 (Impact(2017)=3.783, Typ=Article; Journal Article) Baumann M, Grams A, Djurdjevic T, Wendel EM, Lechner C, Behring B, Blaschek A, Diepold K, Eisenkölbl A, Fluss J, Karenfort M, Koch J, Konu?kan B, Leiz S, Merkenschlager A, Pohl D, Schimmel M, Thiels C, Kornek B, Schanda K, Reindl M, Rostásy K
- Unhealthy Dietary Patterns Established in Infancy Track to Mid-Childhood: The EU Childhood Obesity Project. J Nutr. 2018;148(5): 752-759 (Impact(2017)=4.398, Typ=Article; Journal Article) Luque V, Escribano J, Closa-Monasterolo R, Zaragoza-Jordana M, Ferré N, Grote V, Koletzko B, Totzauer M, Verduci E, ReDionigi A, Gruszfeld D, Socha P, Rousseaux D, Moretti M, Oddy W, Ambrosini GL
- Growth and Clinical Variables in Nitrogen-Restricted Piglets Fed an Adjusted Essential Amino Acid Mix: Effects of Free Amino Acid-Based Diets. J Nutr. 2018;148(7): 1109-1117 (Impact(2017)=4.398, Typ=Article; Journal Article) Lykke M, Sangild PT, van Goudoever JB, van Harskamp D, Schierbeek H, Koletzko B, van der Beek EM, Abrahamse-Berkeveld M, van de Heijning BJM, Stoll B, Burrin DG, Thymann T
- Growth and Clinical Variables in Nitrogen-Restricted Piglets Fed an Adjusted Essential Amino Acid Mix: Effects of Partially Intact Protein-Based Diets. J Nutr. 2018;148(7): 1118-1125 (Impact(2017)=4.398, Typ=Article; Journal Article) Worsøe PS, Sangild PT, van Goudoever JB, Koletzko B, van der Beek EM, Abrahamse-Berkeveld M, Burrin DG, van de Heijning BJM, Thymann T
- Hydrolyzed Formula With Reduced Protein Content Supports Adequate Growth: A Randomized Controlled Noninferiority Trial. J Pediatr Gastroenterol Nutr. 2018;66(5): 822-830 (Impact(2017)=2.752, Typ=Article; Journal Article) Ahrens B, Hellmuth C, Haiden N, Olbertz D, Hamelmann E, Vusurovic M, Fleddermann M, Roehle R, Knoll A, Koletzko B, Wahn U, Beyer K
- Chapter 8. 50 Years of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN): Captivating Witness Reports of a Success Story. J Pediatr Gastroenterol Nutr. 2018;66 Suppl 1: S154-S171 (Impact(2017)=2.752, Typ=Article; Journal Article) Auricchio S, Cadranel S, Guandalini S, Kelly D, Koletzko B, Lentze MJ, McNeish AS, Milla PJ, Rey J, Schmitz J, Shamir R, Strandvik B, Troncone R, Visakorpi J
- Incidence and Risk Factors for Perianal Disease in Pediatric Crohn Disease Patients Followed in CEDATA-GPGE Registry. J Pediatr Gastroenterol Nutr. 2018;66(1): 73-78 (Impact(2017)=2.752, Typ=Article; Journal Article) Brückner A, Werkstetter KJ, de Laffolie J, Wendt C, Prell C, Weidenhausen T, Zimmer KP, Koletzko S, CEDATA-GPGE study group
- Role of Incentives in Long-term Nutritional and Growth Studies in Children. J Pediatr Gastroenterol Nutr. 2018;67(6): 767-772 (Impact(2017)=2.752, Typ=Article; Journal Article) Fidler Mis N, Kennedy K, Fewtrell M, Campoy C, Koletzko B, Working Group on Early Nutrition Research, European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN)
- Hyperadiponectinemia During Infliximab Induction Therapy in Pediatric Crohn Disease. J Pediatr Gastroenterol Nutr. 2018;66(6): 915-919 (Impact(2017)=2.752, Typ=Article; Journal Article) Frivolt K, Schwerd T, Schatz SB, Freudenberg F, Prell C, Werkstetter KJ, Bufler P, Koletzko S
- No Screen and Treat in Children for Helicobacter pylori Infection. J Pediatr Gastroenterol Nutr. 2018;67(4): e87-e88 (Impact(2017)=2.752, Typ=Letter; Journal Article) Koletzko S, Jones N
- Cesarean Section on the Risk of Celiac Disease in the Offspring: The Teddy Study. J Pediatr Gastroenterol Nutr. 2018;66(3): 417-424 (Impact(2017)=2.752, Typ=Article; Journal Article) Koletzko S, Lee HS, Beyerlein A, Aronsson CA, Hummel M, Liu E, Simell V, Kurppa K, Lernmark Å, Hagopian W, Rewers M, She JX, Simell O, Toppari J, Ziegler AG, Krischer J, Agardh D, TEDDY Study Group*
- Pureed Fruit Pouches for Babies: Child Health Under Squeeze. J Pediatr Gastroenterol Nutr. 2018;67(5): 561-563 (Impact(2017)=2.752, Typ=Editorial Material; Journal Article) Koletzko B, Lehmann Hirsch N, Jewell JM, Caroli M, Rodrigues Da Silva Breda J, Weber M
- Nutrition in Pediatric Inflammatory Bowel Disease: A Position Paper on Behalf of the Porto Inflammatory Bowel Disease Group of the European Society of Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2018;66(4): 687-708 (Impact(2017)=2.752, Typ=Review; Journal Article) Miele E, Shamir R, Aloi M, Assa A, Braegger C, Bronsky J, de Ridder L, Escher JC, Hojsak I, Kola?ek S, Koletzko S, Levine A, Lionetti P, Martinelli M, Ruemmele F, Russell RK, Boneh RS, van Limbergen J, Veereman G, Staiano A
- Obesity-Related Metabolomic Profiles and Discrimination of Metabolically Unhealthy Obesity. J Proteome Res. 2018;17(4): 1452-1462 (Impact(2017)=3.95, Typ=Article; Journal Article) Bagheri M, Farzadfar F, Qi L, Yekaninejad MS, Chamari M, Zeleznik OA, Kalantar Z, Ebrahimi Z, Sheidaie A, Koletzko B, Uhl O, Djazayery A
- Mediators of the Effectiveness of an Intervention Promoting Water Consumption in Preschool Children: The ToyBox Study. J Sch Health. 2018;88(12): 877-885 (Impact(2017)=1.935, Typ=Article; Journal Article) Lambrinou CP, van Stralen MM, Androutsos O, Moreno LA, Iotova V, Socha P, Koletzko B, De Bourdeaudhuij I, Manios Y
- The predictive value of factor VIII/factor IX levels to define the severity of hemophilia: communication from the SSC of ISTH. J Thromb Haemost. 2018;16(10): 2106-2110 (Impact(2017)=4.899, Typ=Article; Journal Article) Mancuso ME, Bidlingmaier C, Mahlangu JN, Carcao M, Tosetto A, subcommittee on factor viii, factor ix and rare coagulation disorders , Kurnik K, Blatny J, Castaman G, Linari S, Cid AR, Dargaud Y, Grabell J, James P, Holzhauer S, Kavakli K, Kenet G, Key N, Abajas Y, Ming L, Mingot-Castellano ME, Ozelo M, Pabinger I, Santoro C, Tagliaferri A, Klukowska A
- Building a transitional care checklist in rheumatology: A Delphi-like survey. Joint Bone Spine. 2018;85(4): 435-440 (Impact(2017)=3.304, Typ=Article; Journal Article) Akre C, Suris JC, Belot A, Couret M, Dang TT, Duquesne A, Fonjallaz B, Georgin-Lavialle S, Larbre JP, Mattar J, Meynard A, Schalm S, Hofer M
- Symptom patterns in childhood arterial ischemic stroke: Analysis of a population-based study in Germany. Klin Padiatr. 2018;230(6): 319-325 (Impact(2017)=0.698, Typ=Article; Journal Article) Gerstl L, Weinberger R, von Kries R, Heinen F, Sebastian Schroeder A, Veronika Bonfert M, Borggräfe I, Tacke M, Vill K, N Landgraf M, Kurnik K, Olivieri M
- Purpura fulminans - It's Not Always Sepsis. Klin Padiatr. 2018;230(4): 225-226 (Impact(2017)=0.698, Typ=Editorial Material; Journal Article) Olivieri M, Huetker S, Kurnik K, Bidlingmaier C, Keil J, Reiter K, Hoffmann F
- After asthma: redefining airways diseases. Lancet. 2018;391(10118): 350-400 (Impact(2017)=53.254, Typ=Review; Journal Article; Review) Pavord ID, Beasley R, Agusti A, Anderson GP, Bel E, Brusselle G, Cullinan P, Custovic A, Ducharme FM, Fahy JV, Frey U, Gibson P, Heaney LG, Holt PG, Humbert M, Lloyd CM, Marks G, Martinez FD, Sly PD, von Mutius E, Wenzel S, Zar HJ, Bush A
- Childhood origins of COPD. Lancet Respir Med. 2018;6(7): 482-483 (Impact(2017)=21.466, Typ=Editorial Material; Journal Article) von Mutius E
- Front-line imatinib treatment in children and adolescents with chronic myeloid leukemia: results from a phase III trial. Leukemia. 2018;32(7): 1657-1669 (Impact(2017)=10.023, Typ=Article; Journal Article) Suttorp M, Schulze P, Glauche I, Göhring G, von Neuhoff N, Metzler M, Sedlacek P, de Bont ESJM, Balduzzi A, Lausen B, Aleinikova O, Sufliarska S, Henze G, Strauss G, Eggert A, Kremens B, Groll AH, Berthold F, Klein C, Groß-Wieltsch U, Sykora KW, Borkhardt A, Kulozik AE, Schrappe M, Nowasz C, Krumbholz M, Tauer JT, Claviez A, Harbott J, Kreipe HH, Schlegelberger B, Thiede C
- Ethanol-mediated suppression of IL-37 licenses alcoholic liver disease. Liver Int. 2018;38(6): 1095-1101 (Impact(2017)=4.5, Typ=Journal Article) Grabherr F, Grander C, Adolph TE, Wieser V, Mayr L, Enrich B, Macheiner S, Sangineto M, Reiter A, Viveiros A, Zoller H, Bufler P, Moschen AR, Dinarello CA, Tilg H
- MiR-492 regulates metastatic properties of hepatoblastoma via CD44. Liver Int. 2018;38(7): 1280-1291 (Impact(2017)=4.5, Typ=Article; Journal Article) von Frowein J, Hauck SM, Kappler R, Pagel P, Fleischmann KK, Magg T, Cairo S, Roscher A, von Schweinitz D, Schmid I
- Milk feeding and first complementary foods during the first year of life in the TEDDY study. Matern Child Nutr. 2018;14(4): e12611 (Impact(2017)=3.233, Typ=Article; Journal Article) Riikonen A, Hadley D, Uusitalo U, Miller N, Koletzko S, Yang J, Andrén Aronsson C, Hummel S, Norris JM, Virtanen SM, TEDDY Study Group
- Attachment disorders Monatsschr Kinderheilkd. 2018;166(6): 533-544 (Impact(2017)=0.23, Typ=Article) Brisch KH, Hilmer C, Oberschneider L, Ebeling L
- Resignation/Dissociation of the Infant instead of successful Self-Regulation Monatsschr Kinderheilkd. 2018;166(10): 910-911 (Impact(2017)=0.23, Typ=Letter) Brisch KH, Beck A, Forstner B, Wagner V, Lo S, Landers S
- Vegetarian and vegan Diet Monatsschr Kinderheilkd. 2018;166(11): 998-998 (Impact(2017)=0.23, Typ=Editorial Material) Haiden N, Koletzko B, Ernahrungskommission Osterreich , Ernahrungskommission Deutsch Ges
- Nutrition Oriented Strategies for Combating the Obesity Epidemic (vol 166, pg 403, 2018) Monatsschr Kinderheilkd. 2018;166(8): 731-731 (Impact(2017)=0.23, Typ=Correction) Koletzko B
- Nutrition-oriented strategies for combating the obesity epidemic Monatsschr Kinderheilkd. 2018;166(5): 403-413 (Impact(2017)=0.23, Typ=Article) Koletzko B
- Strategies to combat the obesity epidemic Monatsschr Kinderheilkd. 2018;166(5): 386-387 (Impact(2017)=0.23, Typ=Article) Koletzko B, Wabitsch M
- Vitamin D supplementation beyond the second year of life. Joint statement of the Nutrition Committee of the German Society for Pediatric and Adolescent Medicine (DGKJ) and the German Society for Pediatric Endocrinology and Diabetology (DGKED) Monatsschr Kinderheilkd. 2018;166(9): 814-822 (Impact(2017)=0.23, Typ=Article) Reinehr T, Schnabel D, Wabitsch M, Pozzalla SBD, Buhrer C, Heidtmann B, Jochum F, Kauth T, Korner A, Mihatsch W, Prell C, Rudloff S, Tittel B, Wolfle J, Zimmer KP, Koletzko B, Deutschen Gesellschaft Kinder
- Vegetarian diets in childhood and adolescence. Statement of the Nutrition Committee of the German Society for Pediatric and Adolescent Medicine (DGKJ) Monatsschr Kinderheilkd. 2018;166(11): 999-1005 (Impact(2017)=0.23, Typ=Article) Rudloff S, Buhrer C, Jochum F, Kauth T, Kersting M, Korner A, Koletzko B, Mihatsch W, Prell C, Reinehr T, Zimmer KP, Ernahrungskommission Deutschen Ges
- NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease. Mucosal Immunol. 2018;11(2): 562-574 (Impact(2017)=7.36, Typ=Article; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural) Schwerd T, Bryant RV, Pandey S, Capitani M, Meran L, Cazier JB, Jung J, Mondal K, Parkes M, Mathew CG, Fiedler K, McCarthy DJ, WGS500 Consortium , Oxford IBD cohort study investigators , COLORS in IBD group investigators , UK IBD Genetics Consortium , Sullivan PB, Rodrigues A, Travis SPL, Moore C, Sambrook J, Ouwehand WH, Roberts DJ, Danesh J, INTERVAL Study , Russell RK, Wilson DC, Kelsen JR, Cornall R, Denson LA, Kugathasan S, Knaus UG, Serra EG, Anderson CA, Duerr RH, McGovern DP, Cho J, Powrie F, Li VS, Muise AM, Uhlig HH, Donnelly P, Bell J, Bentley D, McVean G, Ratcliffe P, Taylor J, Wilkie AOM, Donnelly P, Broxholme J, Buck D, Cazier JB, Cornall R, Gregory L, Knight J, Lunter G, McVean G, Taylor J, Tomlinson I, Wilkie AOM, Buck D, Allan C, Attar M, Green A, Gregory L, Humphray S, Kingsbury Z, Lamble S, Lonie L, Pagnamenta A, Piazza P, Polanco G, Trebes A, McVean G, Donnelly P, Cazier JB, Broxholme J, Copley R, Fiddy S, Grocock R, Hatton E, Holmes C, Hughes L, Humburg P, Kanapin A, Lise S, Lunter G, Martin H, Murray L, McCarthy D, Rimmer A, Sahgal N, Wright B, Yau C, Arancibia C, Bailey A, Barnes E, Bird-Lieberman B, Brain O, Braden B, Collier J, East J, Geremia A, Howarth L, Keshav S, Klenerman P, Leedham S, Palmer R, Powrie F, Rodrigues A, Simmons A, Sullivan PB, Travis SPL, Uhlig HH, Uhlig HH, Rodrigues A, Sullivan PB, Heuschkel R, Zilbauer M, Auth MK, Shah N, Kammermeier J, Croft N, Barakat F, Russell RK, Wilson DC, Henderson P, Braegger CP, Posovszky C, Fyderek K, W?drychowicz A, Zurek M, Strisciuglio C, Elawad M, Lo B, Parkes M, Satsangi J, Anderson CA, Jostins L, Kennedy NA, Lamb CA, Ahmad T, Edwards C, Hart A, Hawkey C, Mansfield JC, Mowat C, Newman WG, Satsangi J, Simmons A, Tremelling M, Uhlig HH, Wilson DC, Lee JC, Prescott NJ, Lees CW, Mathew CG, Parkes M, Barrett JC, Anderson CA
- SRPK1 maintains acute myeloid leukemia through effects on isoform usage of epigenetic regulators including BRD4. Nat Commun. 2018;9(1): 5378 (Impact(2017)=12.353, Typ=Article; Journal Article; Research Support, Non-U.S. Gov't) Tzelepis K, De Braekeleer E, Aspris D, Barbieri I, Vijayabaskar MS, Liu WH, Gozdecka M, Metzakopian E, Toop HD, Dudek M, Robson SC, Hermida-Prado F, Yang YH, Babaei-Jadidi R, Garyfallos DA, Ponstingl H, Dias JML, Gallipoli P, Seiler M, Buonamici S, Vick B, Bannister AJ, Rad R, Prinjha RK, Marioni JC, Huntly B, Batson J, Morris JC, Pina C, Bradley A, Jeremias I, Bates DO, Yusa K, Kouzarides T, Vassiliou GS
- Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks. Nat Genet. 2018;50(1): 42-53 (Impact(2017)=27.125, Typ=Article; Journal Article) Demenais F, Margaritte-Jeannin P, Barnes KC, Cookson WOC, Altmüller J, Ang W, Barr RG, Beaty TH, Becker AB, Beilby J, Bisgaard H, Bjornsdottir US, Bleecker E, Bønnelykke K, Boomsma DI, Bouzigon E, Brightling CE, Brossard M, Brusselle GG, Burchard E, Burkart KM, Bush A, Chan-Yeung M, Chung KF, Couto Alves A, Curtin JA, Custovic A, Daley D, de Jongste JC, Del-Rio-Navarro BE, Donohue KM, Duijts L, Eng C, Eriksson JG, Farrall M, Fedorova Y, Feenstra B, Ferreira MA, Australian Asthma Genetics Consortium (AAGC) collaborators , Freidin MB, Gajdos Z, Gauderman J, Gehring U, Geller F, Genuneit J, Gharib SA, Gilliland F, Granell R, Graves PE, Gudbjartsson DF, Haahtela T, Heckbert SR, Heederik D, Heinrich J, Heliövaara M, Henderson J, Himes BE, Hirose H, Hirschhorn JN, Hofman A, Holt P, Hottenga J, Hudson TJ, Hui J, Imboden M, Ivanov V, Jaddoe VWV, James A, Janson C, Jarvelin MR, Jarvis D, Jones G, Jonsdottir I, Jousilahti P, Kabesch M, Kähönen M, Kantor DB, Karunas AS, Khusnutdinova E, Koppelman GH, Kozyrskyj AL, Kreiner E, Kubo M, Kumar R, Kumar A, Kuokkanen M, Lahousse L, Laitinen T, Laprise C, Lathrop M, Lau S, Lee YA, Lehtimäki T, Letort S, Levin AM, Li G, Liang L, Loehr LR, London SJ, Loth DW, Manichaikul A, Marenholz I, Martinez FJ, Matheson MC, Mathias RA, Matsumoto K, Mbarek H, McArdle WL, Melbye M, Melén E, Meyers D, Michel S, Mohamdi H, Musk AW, Myers RA, Nieuwenhuis MAE, Noguchi E, O'Connor GT, Ogorodova LM, Palmer CD, Palotie A, Park JE, Pennell CE, Pershagen G, Polonikov A, Postma DS, Probst-Hensch N, Puzyrev VP, Raby BA, Raitakari OT, Ramasamy A, Rich SS, Robertson CF, Romieu I, Salam MT, Salomaa V, Schlünssen V, Scott R, Selivanova PA, Sigsgaard T, Simpson A, Siroux V, Smith LJ, Solodilova M, Standl M, Stefansson K, Strachan DP, Stricker BH, Takahashi A, Thompson PJ, Thorleifsson G, Thorsteinsdottir U, Tiesler CMT, Torgerson DG, Tsunoda T, Uitterlinden AG, van der Valk RJP, Vaysse A, Vedantam S, von Berg A, von Mutius E, Vonk JM, Waage J, Wareham NJ, Weiss ST, White WB, Wickman M, Widén E, Willemsen G, Williams LK, Wouters IM, Yang JJ, Zhao JH, Moffatt MF, Ober C, Nicolae DL
- Human TGF-?1 deficiency causes severe inflammatory bowel disease and encephalopathy. Nat Genet. 2018;50(3): 344-348 (Impact(2017)=27.125, Typ=Article; Journal Article) Kotlarz D, Marquardt B, Barøy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Conca R, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Strømme P, Klein C
- Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis. Nat Genet. 2018;50(8): 1072-1080 (Impact(2017)=27.125, Typ=Article; Journal Article) Waage J, Standl M, Curtin JA, Jessen LE, Thorsen J, Tian C, Schoettler N, 23andMe Research Team , AAGC collaborators , Flores C, Abdellaoui A, Ahluwalia TS, Alves AC, Amaral AFS, Antó JM, Arnold A, Barreto-Luis A, Baurecht H, van Beijsterveldt CEM, Bleecker ER, Bonàs-Guarch S, Boomsma DI, Brix S, Bunyavanich S, Burchard EG, Chen Z, Curjuric I, Custovic A, den Dekker HT, Dharmage SC, Dmitrieva J, Duijts L, Ege MJ, Gauderman WJ, Georges M, Gieger C, Gilliland F, Granell R, Gui H, Hansen T, Heinrich J, Henderson J, Hernandez-Pacheco N, Holt P, Imboden M, Jaddoe VWV, Jarvelin MR, Jarvis DL, Jensen KK, Jónsdóttir I, Kabesch M, Kaprio J, Kumar A, Lee YA, Levin AM, Li X, Lorenzo-Diaz F, Melén E, Mercader JM, Meyers DA, Myers R, Nicolae DL, Nohr EA, Palviainen T, Paternoster L, Pennell CE, Pershagen G, Pino-Yanes M, Probst-Hensch NM, Rüschendorf F, Simpson A, Stefansson K, Sunyer J, Sveinbjornsson G, Thiering E, Thompson PJ, Torrent M, Torrents D, Tung JY, Wang CA, Weidinger S, Weiss S, Willemsen G, Williams LK, Ober C, Hinds DA, Ferreira MA, Bisgaard H, Strachan DP, Bønnelykke K
- Influence of PCO2 Control on Clinical and Neurodevelopmental Outcomes of Extremely Low Birth Weight Infants. Neonatology. 2018;113(3): 221-230 (Impact(2017)=2.688, Typ=Article; Journal Article) Thome UH, Dreyhaupt J, Genzel-Boroviczeny O, Bohnhorst B, Schmid M, Fuchs H, Rohde O, Avenarius S, Topf HG, Zimmermann A, Faas D, Timme K, Kleinlein B, Buxmann H, Schenk W, Segerer H, Teig N, Ackermann B, Hentschel R, Heckmann M, Schlösser R, Peters J, Rossi R, Rascher W, Böttger R, Seidenberg J, Hansen G, Bode H, Zernickel M, Muche R, Hummler HD, PHELBI Study Group
- Pattern of myogenesis and vascular repair in early and advanced lesions of juvenile dermatomyositis. Neuromuscul Disord. 2018;28(12): 973-985 (Impact(2017)=2.487, Typ=Article; Journal Article) Baumann M, Gumpold C, Mueller-Felber W, Schoser B, Haberler C, Loescher WN, Rostásy K, Fischer MB, Wanschitz JV
- PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum. Neuropediatrics. 2018;49(5): 330-338 (Impact(2017)=1.605, Typ=Article; Journal Article) Alhaddad B, Schossig A, Haack TB, Kovács-Nagy R, Braunisch MC, Makowski C, Senderek J, Vill K, Müller-Felber W, Strom TM, Krabichler B, Freisinger P, Deshpande C, Polster T, Wolf NI, Desguerre I, Wörmann F, Rötig A, Ahting U, Kopajtich R, Prokisch H, Meitinger T, Feichtinger RG, Mayr JA, Jungbluth H, Hubmann M, Zschocke J, Distelmaier F, Koch J
- Unilateral Tongue Fasciculation Associated with Genetic Paraganglioma Syndrome. Neuropediatrics. 2018;49(1): 78-79 (Impact(2017)=1.605, Typ=Article; Journal Article; Case Reports; Video-Audio Media) Borggraefe I, Mueller-Felber W, Schmid I, Huetker S Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated. Neuropediatrics. 2018;49(6): 363-368 (Impact(2017)=1.605, Typ=Article; Journal Article) Schiergens KA, Staudigl M, Borggraefe I, Maier EM
- iTRAP(s) - interdisciplinary trauma room algorithm in pediatric surgery Notfall und Rettungsmedizin. 2018;21(2): 90-99 (Impact(2017)=0.642, Typ=Article) Lehner M, Hoffmann F, Kammer B, Heinrich M, Falkenthal L, Kurz M
- Neonatal emergencies in home births. What can the emergency physician expect? Notfall und Rettungsmedizin. 2018;21(2): 105-109 (Impact(2017)=0.642, Typ=Article) Munch HG
- Dietary Acid Load and Mental Health Outcomes in Children and Adolescents: Results from the GINIplus and LISA Birth Cohort Studies. Nutrients. 2018;10(5) (Impact(2017)=4.196, Typ=Article; Journal Article) Bühlmeier J, Harris C, Koletzko S, Lehmann I, Bauer CP, Schikowski T, von Berg A, Berdel D, Heinrich J, Hebebrand J, Föcker M, Standl M, Libuda L
- Determinants of Plasma Docosahexaenoic Acid Levels and Their Relationship to Neurological and Cognitive Functions in PKU Patients: A Double Blind Randomized Supplementation Study. Nutrients. 2018;10(12) (Impact(2017)=4.196, Typ=Article; Journal Article) Demmelmair H, MacDonald A, Kotzaeridou U, Burgard P, Gonzalez-Lamuno D, Verduci E, Ersoy M, Gokcay G, Alyanak B, Reischl E, Müller-Felber W, Faber FL, Handel U, Paci S, Koletzko B
- Total and Added Sugar Intake: Assessment in Eight Latin American Countries. Nutrients. 2018;10(4) (Impact(2017)=4.196, Typ=Article; Journal Article; Multicenter Study) Fisberg M, Kovalskys I, Gómez G, Rigotti A, Sanabria LYC, García MCY, Torres RGP, Herrera-Cuenca M, Zimberg IZ, Koletzko B, Pratt M, Aznar LAM, Guajardo V, Fisberg RM, Sales CH, Previdelli ÁN, ELANS Study Group
- Association of Dietary Fatty Acids with Blood Lipids is Modified by Physical Activity in Adolescents: Results from the GINIplus and LISA Birth Cohort Studies. Nutrients. 2018;10(10) (Impact(2017)=4.196, Typ=Article; Journal Article) Harris CP, von Berg A, Berdel D, Bauer CP, Schikowski T, Koletzko S, Heinrich J, Schulz H, Standl M
- Perinatal and lifestyle factors mediate the association between maternal education and preschool children's weight status: the ToyBox study. Nutrition. 2018;48: 6-12 (Impact(2017)=3.734, Typ=Article; Journal Article) Androutsos O, Moschonis G, Ierodiakonou D, Karatzi K, De Bourdeaudhuij I, Iotova V, Zych K, Moreno LA, Koletzko B, Manios Y, ToyBox study Group
- Prevalence and sociodemographic correlates of overweight and obesity in a large Pan-European cohort of preschool children and their families: the ToyBox study. Nutrition. 2018;55-56: 192-198 (Impact(2017)=3.734, Typ=Article; Journal Article) Manios Y, Androutsos O, Katsarou C, Vampouli EA, Kulaga Z, Gurzkowska B, Iotova V, Usheva N, Cardon G, Koletzko B, Moreno LA, De Bourdeaudhuij I
- Associations of Maternal Diabetes During Pregnancy with Overweight in Offspring: Results from the Prospective TEDDY Study. Obesity (Silver Spring). 2018;26(9): 1457-1466 (Impact(2017)=4.042, Typ=Article; Journal Article) Pitchika A, Vehik K, Hummel S, Norris JM, Uusitalo UM, Yang J, Virtanen SM, Koletzko S, Andrén Aronsson C, Ziegler AG, Beyerlein A, TEDDY study group
- Effect of Lower Versus Higher Protein Content in Infant Formula Through the First Year on Body Composition from 1 to 6 Years: Follow-Up of a Randomized Clinical Trial. Obesity (Silver Spring). 2018;26(7): 1203-1210 (Impact(2017)=4.042, Typ=Article; Journal Article) Totzauer M, Luque V, Escribano J, Closa-Monasterolo R, Verduci E, ReDionigi A, Hoyos J, Langhendries JP, Gruszfeld D, Socha P, Koletzko B, Grote V, European Childhood Obesity Trial Study Group
- Systematic identification of cancer-specific MHC-binding peptides with RAVEN. Oncoimmunology. 2018;7(9): e1481558 (Impact(2017)=5.503, Typ=Article; Journal Article) Baldauf MC, Gerke JS, Kirschner A, Blaeschke F, Effenberger M, Schober K, Rubio RA, Kanaseki T, Kiran MM, Dallmayer M, Musa J, Akpolat N, Akatli AN, Rosman FC, Özen Ö, Sugita S, Hasegawa T, Sugimura H, Baumhoer D, Knott MML, Sannino G, Marchetto A, Li J, Busch DH, Feuchtinger T, Ohmura S, Orth MF, Thiel U, Kirchner T, Grünewald TGP
- Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood. Orphanet J Rare Dis. 2018;13(1): 42 (Impact(2017)=3.607, Typ=Article; Journal Article) Hengst M, Naehrlich L, Mahavadi P, Grosse-Onnebrink J, Terheggen-Lagro S, Skanke LH, Schuch LA, Brasch F, Guenther A, Reu S, Ley-Zaporozhan J, Griese M
- Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. Orphanet J Rare Dis. 2018;13(1): 122 (Impact(2017)=3.607, Typ=Article; Journal Article) Lotz-Havla AS, Röschinger W, Schiergens K, Singer K, Karall D, Konstantopoulou V, Wortmann SB, Maier EM
- Association of infant formula composition and anthropometry at 4 years: Follow-up of a randomized controlled trial (BeMIM study). PLoS ONE. 2018;13(7): e0199859 (Impact(2017)=2.766, Typ=Article; Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't) Fleddermann M, Demmelmair H, Hellmuth C, Grote V, Trisic B, Nikolic T, Koletzko B
- Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation. PLoS ONE. 2018;13(6): e0198510 (Impact(2017)=2.766, Typ=Article; Journal Article) Geissler S, Textor M, Stumpp S, Seitz S, Lekaj A, Brunk S, Klaassen S, Schinke T, Klein C, Mundlos S, Kornak U, Kühnisch J
- The impact of human breast milk components on the infant metabolism. PLoS ONE. 2018;13(6): e0197713 (Impact(2017)=2.766, Typ=Article; Journal Article; Research Support, Non-U.S. Gov't) Hellmuth C, Uhl O, Demmelmair H, Grunewald M, Auricchio R, Castillejo G, Korponay-Szabo IR, Polanco I, Roca M, Vriezinga SL, Werkstetter KJ, Koletzko B, Mearin ML, Kirchberg FF
- Rhinovirus infections change DNA methylation and mRNA expression in children with asthma. PLoS ONE. 2018;13(11): e0205275 (Impact(2017)=2.766, Typ=Article; Journal Article) Pech M, Weckmann M, König IR, Franke A, Heinsen FA, Oliver B, Ricklefs I, Fuchs O, Rabe K, Hansen G, V Mutius E, Kopp MV, ALLIANCE-study group
- Handgrip strength is associated with improved spirometry in adolescents. PLoS ONE. 2018;13(4): e0194560 (Impact(2017)=2.766, Typ=Article; Journal Article) Smith MP, Standl M, Berdel D, von Berg A, Bauer CP, Schikowski T, Koletzko S, Lehmann I, Krämer U, Heinrich J, Schulz H
- Ca and innate immune pathways are activated and differentially expressed in childhood asthma phenotypes. Pediatr Allergy Immunol. 2018;29(8): 823-833 (Impact(2017)=4.137, Typ=Article; Journal Article) Boeck A, Landgraf-Rauf K, Vogelsang V, Siemens D, Prazeres da Costa O, Klucker E, von Mutius E, Buch T, Mansmann U, Schaub B
- Full breastfeeding and allergies from infancy until adolescence in the GINIplus cohort. Pediatr Allergy Immunol. 2018;29(1): 96-101 (Impact(2017)=4.137, Typ=Letter; Randomized Controlled Trial; Letter; Research Support, Non-U.S. Gov't) Filipiak-Pittroff B, Koletzko S, Krämer U, Standl M, Bauer CP, Berdel D, von Berg A
- Reply to Wjst. Pediatr Allergy Immunol. 2018;29(4): 458-459 (Impact(2017)=4.137, Typ=Letter; Comment; Letter) Filipiak-Pittroff B, Koletzko S, Berdel D, von Berg A
- IRF-1 SNPs influence the risk for childhood allergic asthma: A critical role for pro-inflammatory immune regulation. Pediatr Allergy Immunol. 2018;29(1): 34-41 (Impact(2017)=4.137, Typ=Article; Journal Article) Landgraf-Rauf K, Boeck A, Siemens D, Klucker E, Vogelsang V, Schmidt S, Kunze S, Weissenbacher C, Graessel A, Schmidt-Weber C, von Mutius E, Schedel M, Schaub B
- Integrating farm and air pollution studies in search for immunoregulatory mechanisms operating in protective and high-risk environments. Pediatr Allergy Immunol. 2018;29(8): 815-822 (Impact(2017)=4.137, Typ=Article; Journal Article) Martikainen MV, Rönkkö TJ, Schaub B, Täubel M, Gu C, Wong GW, Li J, Pekkanen J, Komppula M, Hirvonen MR, Jalava PI, Roponen M
- An approach to the asthma-protective farm effect by geocoding: Good farms and better farms. Pediatr Allergy Immunol. 2018;29(3): 275-282 (Impact(2017)=4.137, Typ=Article; Journal Article) Müller-Rompa SEK, Markevych I, Hose AJ, Loss G, Wouters IM, Genuneit J, Braun-Fahrländer C, Horak E, Boznanski A, Heederik D, von Mutius E, Heinrich J, Ege MJ, GABRIELA Study Group
- Duration to Establish an Emergency Vascular Access and How to Accelerate It: A Simulation-Based Study Performed in Real-Life Neonatal Resuscitation Rooms. Pediatr Crit Care Med. 2018;19(5): 468-476 (Impact(2017)=3.092, Typ=Article; Journal Article) Schwindt EM, Hoffmann F, Deindl P, Waldhoer TJ, Schwindt JC
- Diabetes mellitus in pediatric solid organ recipients without and with cystic fibrosis: An analysis from the German-Austrian diabetes database (Diabetes Patienten Verlaufsdokumentation). Pediatr Diabetes. 2018;19(7): 1191-1197 (Impact(2017)=3.161, Typ=Article; Journal Article) Bechtold SM, Rohrer TR, Raile K, Hofer S, Thon A, Boettcher C, Konrad K, Pozza RD, Bollow E, Holl RW
- Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1. Pediatr Nephrol. 2018;33(7): 1269-1272 (Impact(2017)=2.627, Typ=Article; Journal Article) Eichinger A, Ponsel S, Bergmann C, Günthner R, Hoefele J, Amann K, Lange-Sperandio B
- Development and validation of a health-related quality of life questionnaire for pediatric patients with interstitial lung disease. Pediatr Pulmonol. 2018;53(7): 954-963 (Impact(2017)=3.157, Typ=Article; Journal Article) Niemitz M, Schwerk N, Goldbeck L, Griese M
- Practice and consensus-based strategies in diagnosing and managing systemic juvenile idiopathic arthritis in Germany. Pediatr Rheumatol Online J. 2018;16(1): 7 (Impact(2017)=2.543, Typ=Article; Journal Article) Hinze CH, Holzinger D, Lainka E, Haas JP, Speth F, Kallinich T, Rieber N, Hufnagel M, Jansson AF, Hedrich C, Winowski H, Berger T, Foeldvari I, Ganser G, Hospach A, Huppertz HI, Mönkemöller K, Neudorf U, Weißbarth-Riedel E, Wittkowski H, Horneff G, Foell D, PRO-KIND SJIA project collaborators , Weller F, Thon A, Lilienthal E, Lutz T, Oommen PT, Berendes R, Berrang J, Tenbrock K, Rietschel C, Heubner G, Küster RM
- Development of practice and consensus-based strategies including a treat-to-target approach for the management of moderate and severe juvenile dermatomyositis in Germany and Austria. Pediatr Rheumatol Online J. 2018;16(1): 40 (Impact(2017)=2.543, Typ=Article; Journal Article) Hinze CH, Oommen PT, Dressler F, Urban A, Weller-Heinemann F, Speth F, Lainka E, Brunner J, Fesq H, Foell D, Müller-Felber W, Neudorf U, Rietschel C, Schwarz T, Schara U, Haas JP
- Energy intake and food sources of eight Latin American countries: results from the Latin American Study of Nutrition and Health (ELANS). Public Health Nutr. 2018;21(14): 2535-2547 (Impact(2017)=2.485, Typ=Article; Journal Article) Kovalskys I, Fisberg M, Gómez G, Pareja RG, Yépez García MC, Cortés Sanabria LY, Herrera-Cuenca M, Rigotti A, Guajardo V, Zalcman Zimberg I, Nogueira Previdelli A, Moreno LA, Koletzko B, ELANS Study Group
- Pulmonary interstitial glycogenosis - A systematic analysis of new cases. Respir Med. 2018;140: 11-20 (Impact(2017)=3.23, Typ=Article; Journal Article; Review; Multicenter Study; Research Support, Non-U.S. Gov't) Seidl E, Carlens J, Reu S, Wetzke M, Ley-Zaporozhan J, Brasch F, Wesselak T, Schams A, Rauch D, Schuch L, Kappler M, Schelstraete P, Wolf M, Stehling F, Haarmann E, Borensztajn D, van de Loo M, Rubak S, Lex C, Hinrichs B, Reiter K, Schwerk N, Griese M
- Differential effects of Nintedanib and Pirfenidone on lung alveolar epithelial cell function in ex vivo murine and human lung tissue cultures of pulmonary fibrosis. Respir Res. 2018;19(1): 175 (Impact(2017)=3.751, Typ=Article; Journal Article) Lehmann M, Buhl L, Alsafadi HN, Klee S, Hermann S, Mutze K, Ota C, Lindner M, Behr J, Hilgendorff A, Wagner DE, Königshoff M
- Early life environmental exposure protection or risk for allergic diseases Rev Fr Allergol. 2018;41(8): 348-358 (Impact(2017)=0.306, Typ=Review) Krusche J, Schaub B
- The multifaceted presentation of chronic recurrent multifocal osteomyelitis: a series of 486 cases from the Eurofever international registry. Rheumatology (Oxford). 2018;57(8): 1504 (Impact(2017)=5.245, Typ=Correction; Journal Article; PUBLISHED ERRATUM) Girschick H, Finetti M, Orlando F, Schalm S, Insalaco A, Ganser G, Nielsen S, Herlin T, Koné-Paut I, Martino S, Cattalini M, Anton J, Mohammed Al-Mayouf S, Hofer M, Quartier P, Boros C, Kuemmerle-Deschner J, Pires Marafon D, Alessio M, Schwarz T, Ruperto N, Martini A, Jansson A, Gattorno M, Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever registry
- Inception of early-life allergen-induced airway hyperresponsiveness is reliant on IL-13CD4 T cells. Sci Immunol. 2018;3(27) (Impact: liegt nicht vor, Typ=Article; Journal Article) Saglani S, Gregory LG, Manghera AK, Branchett WJ, Uwadiae F, Entwistle LJ, Oliver RA, Vasiliou JE, Sherburn R, Lui S, Puttur F, Vöhringer D, Walker SA, Buckley J, Grychtol R, Fainardi V, Denney L, Byrne A, von Mutius E, Bush A, Lloyd CM
- Intrauterine smoke exposure deregulates lung function, pulmonary transcriptomes, and in particular insulin-like growth factor (IGF)-1 in a sex-specific manner. Sci Rep. 2018;8(1): 7547 (Impact(2017)=4.122, Typ=Article; Journal Article) Dehmel S, Nathan P, Bartel S, El-Merhie N, Scherb H, Milger K, John-Schuster G, Yildirim AO, Hylkema M, Irmler M, Beckers J, Schaub B, Eickelberg O, Krauss-Etschmann S
- Gas exchange mechanisms in preterm infants on HFOV - a computational approach. Sci Rep. 2018;8(1): 13008 (Impact(2017)=4.122, Typ=Article; Journal Article) Roth CJ, Förster KM, Hilgendorff A, Ertl-Wagner B, Wall WA, Flemmer AW
- Mycobacterium tuberculosis Exploits a Molecular Off Switch of the Immune System for Intracellular Survival. Sci Rep. 2018;8(1): 661 (Impact(2017)=4.122, Typ=Article; Journal Article; Research Support, Non-U.S. Gov't) von Both U, Berk M, Agapow PM, Wright JD, Git A, Hamilton MS, Goldgof G, Siddiqui N, Bellos E, Wright VJ, Coin LJ, Newton SM, Levin M
- Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial. Seizure. 2018;56: 115-120 (Impact(2017)=2.839, Typ=Article; Journal Article; Randomized Controlled Trial; Multicenter Study) Tacke M, Borggraefe I, Gerstl L, Heinen F, Vill K, Bonfert M, Bast T, HEAD Study group , Neubauer BA, Baumeister F, Baethmann M, Bentele K, Blank C, Blank HM, Bode H, Bosch F, Brandl U, Brockmann K, Dahlem P, Ernst JP, Feldmann E, Fiedler A, Gerigk M, Heß S, Hikel C, Hoffmann HG, Kieslich M, Klepper J, Kluger G, Koch H, Koch W, Korinthenberg R, Krois I, Kühne H, Kurlemann G, Mandl M, Mause U, Navratil P, Opp J, Penzien J, Prietsch V, Quattländer A, Rating D, Schara U, Shamdeen MG, Sprinz A, Wendker-Magrabi H, Stephani U, Muhle H, Straßburg HM, Töpke B, Trollmann R, Tuschen-Hofstätter E, Waltz S, Weber G, Wien FU, Wolff M, Polster T, Freitag H, Sönmez Ö, Reinhardt K, Traus M, Hoovey Z
- Infrared Thermography as a Non-Invasive Tool to Explore Differences in the Musculoskeletal System of Children with Hemophilia Compared to an Age-Matched Healthy Group. Sensors (Basel). 2018;18(2) (Impact(2017)=2.475, Typ=Article; Journal Article) Seuser A, Kurnik K, Mahlein AK
- The Potentials and Caveats of Mesenchymal Stromal Cell-Based Therapies in the Preterm Infant. Stem Cells Int. 2018;2018: 9652897 (Impact(2017)=3.989, Typ=Review; Journal Article; Review) Gronbach J, Shahzad T, Radajewski S, Chao CM, Bellusci S, Morty RE, Reicherzer T, Ehrhardt H
- Functional phenotypes determined by fluctuation-based clustering of lung function measurements in healthy and asthmatic cohort participants. Thorax. 2018;73(2): 107-115 (Impact(2017)=9.655, Typ=Article; Journal Article) Delgado-Eckert E, Fuchs O, Kumar N, Pekkanen J, Dalphin JC, Riedler J, Lauener R, Kabesch M, Kupczyk M, Dahlen SE, Mutius EV, Frey U, PASTURE and BIOAIR Study groups , Bitter S, Braun-Fahrländer C, Büchele G, Dalphin ML, Depner M, Doekes G, Ege MJ, Frei R, Genuneit J, Hirvonen MR, Hyvärinen A, Karvonen AM, Kaulek V, Loss G, Pfefferle PI, Remes S, Renz H, Roduit C, Roponen M, Schaub B, Tiittanen P, Middelveld JW, Dahlén B, Gaga M, Siafakas NM, Papi A, Fabbri LM, Joos G, Rabe KF, Johnston SL, Chanez P, Gjormarkaj M, Howarth PH, Ni?ankowska-Mogilnicka E
- International management platform for children's interstitial lung disease (chILD-EU). Thorax. 2018;73(3): 231-239 (Impact(2017)=9.655, Typ=Article; Journal Article) Griese M, Seidl E, Hengst M, Reu S, Rock H, Anthony G, Kiper N, Emiralio?lu N, Snijders D, Goldbeck L, Leidl R, Ley-Zaporozhan J, Krüger-Stollfuss I, Kammer B, Wesselak T, Eismann C, Schams A, Neuner D, MacLean M, Nicholson AG, Lauren M, Clement A, Epaud R, de Blic J, Ashworth M, Aurora P, Calder A, Wetzke M, Kappler M, Cunningham S, Schwerk N, Bush A, and the other chILD-EU collaborators
- Kaposiform hemangioendothelioma in children: a benign vascular tumor with multiple treatment options. World J Pediatr. 2018;14(4): 322-329 (Impact(2017)=1.228, Typ=Review; Journal Article) Schmid I, Klenk AK, Sparber-Sauer M, Koscielniak E, Maxwell R, Häberle B
- Shaken baby syndrome in a young infant. Course, outcome, discussion Z Rechtsmed. 2018;28(6): 507-513 (Impact(2017)=0.642, Typ=Article) Landgraf MN, Heinen F, Kammer B, Seubert C, Olivieri M, Schon C, Hoffmann F, Reiter K, Well T, Muller-Felber W
- [New support services for the care of young patients with rheumatic diseases]. Z Rheumatol. 2018;77(8): 685-693 (Impact(2017)=0.697, Typ=Article; Journal Article; Review; English Abstract) Schalm S, Niewerth M, Minden K
2017
Publikationen 2017
- Blaschek A, Huppke P, Kumpfel T, Muller-Felber W, Rostasy K (2017) [Multiple sclerosis in childhood and adolescence : Complex, chronic and differentiated]. Nervenarzt 88:1377-1384
- Blaschek A, R VK, Lohse P, Huss K, Vill K, Belohradsky BH, Heinen F, Muller-Felber W, Kumpfel T (epub ahaed of print) TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis. Eur J Paediatr Neurol 22:72-81
- Borggraefe I, Mueller-Felber W, Schmid I, Huetker S (epub ahaed of print) Unilateral Tongue Fasciculation Associated with Genetic Paraganglioma Syndrome. Neuropediatrics 49:78-79
- Brei C, Stecher L, Brunner S, Ensenauer R, Heinen F, Wagner PD, Hermsdorfer J, Hauner H (2017) Impact of the n-6:n-3 long-chain PUFA ratio during pregnancy and lactation on offspring neurodevelopment: 5-year follow-up of a randomized controlled trial. Eur J Clin Nutr 71:1114-1120
- de Kovel CGF, Syrbe S, Brilstra EH, Verbeek N, Kerr B, Dubbs H, Bayat A, Desai S, Naidu S, Srivastava S, Cagaylan H, Yis U, Saunders C, Rook M, Plugge S, Muhle H, Afawi Z, Klein KM, Jayaraman V, Rajagopalan R, Goldberg E, Marsh E, Kessler S, Bergqvist C, Conlin LK, Krok BL, Thiffault I, Pendziwiat M, Helbig I, Polster T, Borggraefe I, Lemke JR, van den Boogaardt MJ, Moller RS, Koeleman BPC (2017) Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. JAMA Neurol 74:1228-1236
- Deissler A, Albers L, von Kries R, Weinberger R, Langhagen T, Gerstl L, Heinen F, Jahn K, Schroder AS (2017) Health-Related Quality of Life of Children/Adolescents with Vertigo: Retrospective Study from the German Center of Vertigo and Balance Disorders. Neuropediatrics 48:91-97
- Filippopulos FM, Albers L, Straube A, Gerstl L, Blum B, Langhagen T, Jahn K, Heinen F, von Kries R, Landgraf MN (2017) Vertigo and dizziness in adolescents: Risk factors and their population attributable risk. PLoS One 12:e0187819
- Forster K, Sass S, Ehrhardt H, Mous DS, Rottier RJ, Oak P, Schulze A, Flemmer AW, Gronbach J, Hubener C, Desai T, Eickelberg O, Theis FJ, Hilgendorff A (2017) Early Identification of Bronchopulmonary Dysplasia Using Novel Biomarkers by Proteomic Screening. Am J Respir Crit Care Med
- Gerstl L, Bonfert MV, Nicolai T, Dieterich M, Adamczyk C, Heinen F, Olivieri M, Steinlin M (2017) [Childhood stroke : What are the special features of childhood stroke?]. Nervenarzt 88:1367-1376
- Gerstl L, Schoppe N, Albers L, Ertl-Wagner B, Alperin N, Ehrt O, Pomschar A, Landgraf MN, Heinen F (2017) Pediatric idiopathic intracranial hypertension - Is the fixed threshold value of elevated LP opening pressure set too high? Eur J Paediatr Neurol 21:833-841
- Grill E, Muller T, Becker-Bense S, Gurkov R, Heinen F, Huppert D, Zwergal A, Strobl R (2017) DizzyReg: the prospective patient registry of the German Center for Vertigo and Balance Disorders. J Neurol 264:34-36
- Haberlandt E, Ensslen M, Gruber-Sedlmayr U, Plecko B, Brunner-Krainz M, Schimmel M, Schubert-Bast S, Neirich U, Philippi H, Kurleman G, Tardieu M, Wohlrab G, Borggraefe I, Rostasy K (2017) Epileptic phenotypes, electroclinical features and clinical characteristics in 17 children with anti-NMDAR encephalitis. Eur J Paediatr Neurol 21:457-464
- Hennes EM, Baumann M, Schanda K, Anlar B, Bajer-Kornek B, Blaschek A, Brantner-Inthaler S, Diepold K, Eisenkolbl A, Gotwald T, Kuchukhidze G, Gruber-Sedlmayr U, Hausler M, Hoftberger R, Karenfort M, Klein A, Koch J, Kraus V, Lechner C, Leiz S, Leypoldt F, Mader S, Marquard K, Poggenburg I, Pohl D, Pritsch M, Raucherzauner M, Schimmel M, Thiels C, Tibussek D, Vieker S, Zeches C, Berger T, Reindl M, Rostasy K, Group BS (2017) Prognostic relevance of MOG antibodies in children with an acquired demyelinating syndrome. Neurology 89:900-908
- Hesse N, Schroder AS, Muller-Felber W, Bodensteiner C, Arens M, Hofmann UG (2017) Body pose estimation in depth images for infant motion analysis. Conf Proc IEEE Eng Med Biol Soc 2017:1909-1912
- Hilgendorff A, Windhorst A, Klein M, Tchatalbachev S, Windemuth-Kieselbach C, Kreuder J, Heckmann M, Gkatzoflia A, Ehrhardt H, Mysliwietz J, Maier M, Izar B, Billion A, Gortner L, Chakraborty T, Hossain H (2017) Gene expression profiling at birth characterizing the preterm infant with early onset infection. J Mol Med (Berl) 95:169-180
- Hoelz H, Coppenrath E, Hoertnagel K, Roser T, Tacke M, Gerstl L, Borggraefe I (2017) Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation. Clin EEG Neurosci:1550059417697841
- Hubner J, Kruse B, Christen HJ, Weidenmann J, Weiner V, Schone-Bake JC, Eichinger A, Diedrich S, Muller-Felber W (2017) Acute Flaccid Myelitis in German Children in 2016-the Return of Polio? Dtsch Arztebl Int 114:551-557
- Huppert D, Langhagen T, Brandt T (2017) Benign course of episodic dizziness disorders in childhood. J Neurol 264:4-6
- Karin I, Borggraefe I, Catarino CB, Kuhm C, Hoertnagel K, Biskup S, Opladen T, Blau N, Heinen F, Klopstock T (2017) Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient. J Neurol 264:578-582
- Klemme M, Gerstl L, Weinberger R, Olivieri M, Flemmer A, von Kries R, Felderhoff-Muser U, Dzietko M (2017) Neonatal Arterial Ischemic Stroke - A Hospital Based Active Surveillance Study in Germany. Klin Padiatr 229:142-146
- Koerte IK, Nichols E, Tripodis Y, Schultz V, Lehner S, Igbinoba R, Chuang AZ, Mayinger M, Klier EM, Muehlmann M, Kaufmann D, Lepage C, Heinen F, Schulte-Korne G, Zafonte R, Shenton ME, Sereno AB (2017) Impaired Cognitive Performance in Youth Athletes Exposed to Repetitive Head Impacts. J Neurotrauma 34:2389-2395
- Landgraf MN, Biebl JT, Langhagen T, Hannibal I, Eggert T, Vill K, Gerstl L, Albers L, von Kries R, Straube A, Heinen F (epub ahaed of print) Children with migraine: Provocation of headache via pressure to myofascial trigger points in the trapezius muscle? - A prospective controlled observational study. Eur J Pain 22:385-392
- Landgraf MN, Giese RM, Heinen F (2017) [Fetal alcohol spectrum disorders (FASD) - diagnosis, neuropsychological assessment, and symptom-orientated therapy]. Z Kinder Jugendpsychiatr Psychother 45:104-117
- Landgraf MN, Konig H, Hannibal I, Langhagen T, Bonfert MV, Klose B, Rahmsdorf B, Giese RM, Straube A, von Kries R, Albers L, Ebinger F, Ertl-Wagner B, Kammer B, Korte I, Sollmann N, Krieg S, Heinen F (2017) [Migraine in children and adolescents-brain and muscle? : Another example of why children are not small adults]. Nervenarzt 88:1402-1410
- Moller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jacobs J, Swinkels M, Betzler C, Syrbe S, Nikanorova M, Myers CT, Larsen LH, Vejzovic S, Pendziwiat M, von Spiczak S, Hopkins S, Dubbs H, Mang Y, Mukhin K, Holthausen H, van Gassen KL, Dahl HA, Tommerup N, Mefford HC, Rubboli G, Guerrini R, Lemke JR, Lerche H, Muhle H, Maljevic S (2017) Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. Neurology 88:483-492
- Muller-Felber W (2017) Pediatric Guillain-Barre Syndrome: Is a low amplitude of nerve action potentials always a bad omen? Eur J Paediatr Neurol 21:804
- Muller-Felber W, Schoser B (2017) [In memory of Dieter Pongratz]. Z Rheumatol 76:281
- Muller-Felber W, Vill K (2017) Clinical Neurophysiology in Neuromuscular Disorders: Old Fashioned or Still Relevant? Neuropediatrics 48:221-225
- Oak P, Hilgendorff A (2017) The BPD trio? Interaction of dysregulated PDGF, VEGF, and TGF signaling in neonatal chronic lung disease. Mol Cell Pediatr 4:11
- Oak P, Pritzke T, Thiel I, Koschlig M, Mous DS, Windhorst A, Jain N, Eickelberg O, Foerster K, Schulze A, Goepel W, Reicherzer T, Ehrhardt H, Rottier RJ, Ahnert P, Gortner L, Desai TJ, Hilgendorff A (2017) Attenuated PDGF signaling drives alveolar and microvascular defects in neonatal chronic lung disease. EMBO Mol Med 9:1504-1520
- Poryo M, Boeckh JC, Gortner L, Zemlin M, Duppre P, Ebrahimi-Fakhari D, Wagenpfeil S, Heckmann M, Mildenberger E, Hilgendorff A, Flemmer AW, Frey G, Meyer S, consortium Ps, Deutschland NNG (2017) Ante-, peri- and postnatal factors associated with intraventricular hemorrhage in very premature infants. Early Hum Dev 116:1-8
- Schrom E, Huber M, Aneja M, Dohmen C, Emrich D, Geiger J, Hasenpusch G, Herrmann-Janson A, Kretzschmann V, Mykhailyk O, Pasewald T, Oak P, Hilgendorff A, Wohlleber D, Hoymann HG, Schaudien D, Plank C, Rudolph C, Kubisch-Dohmen R (2017) Translation of Angiotensin-Converting Enzyme 2 upon Liver- and Lung-Targeted Delivery of Optimized Chemically Modified mRNA. Mol Ther Nucleic Acids 7:350-365
- Tacke M, Borggraefe I, Gerstl L, Heinen F, Vill K, Bonfert M, Bast T (2017) Corrigendum to "EEG changes in rolandic epilepsy under treatment with Levetiracetam and Sulthiame" [Eur J Paediatr Neurol 21 (Suppl. 1) (June 2017) e97]. Eur J Paediatr Neurol 21:e1
- Tacke M, Neubauer BA, Gerstl L, Roser T, Remi J, Borggraefe I (2017) [Epilepsy-new diagnostic tools, old drugs? : Therapeutic consequences of epilepsy genetics]. Nervenarzt 88:1385-1394
- Tacke U, Weigand-Brunnholzl H, Hilgendorff A, Giese RM, Flemmer AW, Konig H, Warken-Madelung B, Arens M, Hesse N, Schroeder AS (2017) [Developmental neurology - networked medicine and new perspectives]. Nervenarzt 88:1395-1401
- van den Noort JC, Bar-On L, Aertbelien E, Bonikowski M, Braendvik SM, Brostrom EW, Buizer AI, Burridge JH, van Campenhout A, Dan B, Fleuren JF, Grunt S, Heinen F, Horemans HL, Jansen C, Kranzl A, Krautwurst BK, van der Krogt M, Lerma Lara S, Lidbeck CM, Lin JP, Martinez I, Meskers C, Metaxiotis D, Molenaers G, Patikas DA, Remy-Neris O, Roeleveld K, Shortland AP, Sikkens J, Sloot L, Vermeulen RJ, Wimmer C, Schroder AS, Schless S, Becher JG, Desloovere K, Harlaar J (2017) European consensus on the concepts and measurement of the pathophysiological neuromuscular responses to passive muscle stretch. Eur J Neurol 24:981-e938
- Vill K, Blaschek A, Glaser D, Kuhn M, Haack T, Alhaddad B, Wagner M, Kovacs-Nagy R, Tacke M, Gerstl L, Schroeder AS, Borggraefe I, Mueller C, Schlotter-Weigel B, Schoser B, Walter MC, Muller-Felber W (2017) Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany. J Neuromuscul Dis 4:315-325
- Vill K, Blaschek A, Schara U, Kolbel H, Hohenfellner K, Harms E, Olgemoller B, Walter MC, Muller-Felber W (2017) [Spinal muscular atrophy : Time for newborn screening?]. Nervenarzt 88:1358-1366
- Vill K, Ille L, Blaschek A, Rawer R, Landgraf MN, Gerstl L, Schroeder SA, Muller-Felber W (2017) Jumping Mechanography as a Complementary Testing Tool for Motor Function in Children with Hereditary Motor and Sensory Neuropathy. Neuropediatrics 48:420-425
- Vill K, Muller-Felber W, Alhaddad B, Strom TM, Teusch V, Weigand H, Blaschek A, Meitinger T, Haack TB (2017) A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation. Mov Disord 32:797-799
- v T, Herberhold T, Hughes E, Koch M, Kutzer C, Hoertnagel K, Nitanda J, Pohl M, Rostasy K, Haack TB, Son Stulpnagel C, Ensslen M, Moller RS, Pal DK, Masnada S, Veggiotti P, Piazza E, Dreesmann M, Hartliebtohr K, Kluger G, Borggraefe I (2017) Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs. Eur J Paediatr Neurol 21:530-541
- Bonfert MV, Gerstl L, Hannibal I, Langhagen T, Kusser B, Heinrich T, Kammer B, Körte I, Heinen F, Landgraf MN. Gehirnerschütterung im Sport – und was dann? Kinder- und Jugendarzt 2017; 48 (4): 1-6.
- Landgraf MN, Heinen F. Fetale Alkoholspektrumstörung FASD – Eine vollständig vermeidbare, sehr häufige, angeborene, chronische Erkrankung. BVKJ Schwerpunktbroschüre 2017:32-35.
- Gerstl L, Heinen F, Borggraefe I, Olivieri M, Kurnik K, Nicolai T, Reiter K, Berweck S, Schroeder AS. Pädiatrischer Schlaganfall – ein kinderneurologischer Notfall. Monatsschr Kinderheilkd. 2017, Volume 165 (5), 408-415
2016
Publikationen 2016
- M. Zech, S. Boesch, E. M. Maier, I. Borggraefe, K. Vill, F. Laccone, V. Pilshofer, A. Ceballos-Baumann, B. Alhaddad, R. Berutti, W. Poewe, T. B. Haack, B. Haslinger, T. M. Strom and J. Winkelmann. Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. Am J Hum Genet 996:1377-1387
- L. S. Kremer, K. Danhauser, D. Herebian, D. Petkovic Ramadza, D. Piekutowska-Abramczuk, A. Seibt, W. Muller-Felber, T. B. Haack, R. Ploski, K. Lohmeier, D. Schneider, D. Klee, D. Rokicki, E. Mayatepek, T. M. Strom, T. Meitinger, T. Klopstock, E. Pronicka, J. A. Mayr, I. Baric, F. Distelmaier and H. Prokisch. NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood. Am J Hum Genet 994:894-902
- H. Ehrhardt, T. Pritzke, P. Oak, M. Kossert, L. Biebach, K. Forster, M. Koschlig, C. M. Alvira and A. Hilgendorff. Absence of TNF-alpha enhances inflammatory response in the newborn lung undergoing mechanical ventilation. Am J Physiol Lung Cell Mol Physiol 31010:L909-18
- I. K. Koerte, A. Willems, M. Muehlmann, K. Moll, S. Cornell, S. Pixner, D. Steffinger, D. Keeser, F. Heinen, M. Kubicki, M. E. Shenton, B. Ertl-Wagner and G. Schulte-Korne. Mathematical abilities in dyslexic children: a diffusion tensor imaging study. Brain Imaging Behav 103:781-91
- I. K. Koerte, M. Mayinger, M. Muehlmann, D. Kaufmann, A. P. Lin, D. Steffinger, B. Fisch, B. S. Rauchmann, S. Immler, S. Karch, F. R. Heinen, B. Ertl-Wagner, M. Reiser, R. A. Stern, R. Zafonte and M. E. Shenton. Cortical thinning in former professional soccer players. Brain Imaging Behav 103:792-8
- M. N. Landgraf, R. von Kries, F. Heinen, T. Langhagen, A. Straube and L. Albers. Self-reported neck and shoulder pain in adolescents is associated with episodic and chronic migraine. Cephalalgia 368:807-11
- S. Rudnik-Schoneborn, D. Tolle, J. Senderek, K. Eggermann, M. Elbracht, U. Kornak, M. von der Hagen, J. Kirschner, B. Leube, W. Muller-Felber, U. Schara, K. von Au, D. Wieczorek, C. Bussmann and K. Zerres. Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients. Clin Genet 891:34-43
- I. Borggraefe, C. B. Catarino, J. Remi, C. Vollmar, A. Peraud, P. A. Winkler and S. Noachtar. Lateralization of cortical negative motor areas. Clin Neurophysiol 12710:3314-21
- T. Langhagen, M. N. Landgraf, D. Huppert, F. Heinen and K. Jahn. Vestibular Migraine in Children and Adolescents. Curr Pain Headache Rep 2012:67
- M. Tacke, L. Gerstl, F. Heinen, I. Heukaeufer, M. Bonfert, T. Bast, S. Cornell, B. A. Neubauer, I. Borggraefe and H. S. g. German. Effect of anticonvulsive treatment on neuropsychological performance in children with BECTS. Eur J Paediatr Neurol 206:874-879
- N. Sollmann, F. Trepte-Freisleder, L. Albers, N. H. Jung, V. Mall, B. Meyer, F. Heinen, S. M. Krieg and M. N. Landgraf. Magnetic stimulation of the upper trapezius muscles in patients with migraine - A pilot study. Eur J Paediatr Neurol 206:888-897
- E. Haberlandt, M. Ensslen, U. Gruber-Sedlmayr, B. Plecko, M. Brunner-Krainz, M. Schimmel, S. Schubert-Bast, U. Neirich, H. Philippi, G. Kurleman, M. Tardieu, G. Wohlrab, I. Borggraefe and K. Rostasy. Epileptic phenotypes, electroclinical features and clinical characteristics in 17 children with anti-NMDAR encephalitis. Eur J Paediatr Neurol
- L. Gerstl, M. Olivieri, F. Heinen, I. Borggraefe, A. S. Schroeder, M. Tacke, K. Vill, R. Dalla-Pozza, K. Reiter, J. Lutz, H. Brueckmann and H. Janssen. Successful mechanical thrombectomy in a three-year-old boy with cardioembolic occlusion of both the basilar artery and the left middle cerebral artery. Eur J Paediatr Neurol 206:962-965
- J. Pattathu, M. Gorenflo, A. Hilgendorff, J. W. Koskenvuo, C. Apitz, G. Hansmann and T. P. Alastalo. Genetic testing and blood biomarkers in paediatric pulmonary hypertension. Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK. Heart 102 Suppl 2:ii36-ii41
- A. Hilgendorff, C. Apitz, D. Bonnet and G. Hansmann. Pulmonary hypertension associated with acute or chronic lung diseases in the preterm and term neonate and infant. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK. Heart 102 Suppl 2:ii49-56
- G. Hansmann, C. Apitz, H. Abdul-Khaliq, T. P. Alastalo, P. Beerbaum, D. Bonnet, K. O. Dubowy, M. Gorenflo, A. Hager, A. Hilgendorff, M. Kaestner, M. Koestenberger, J. W. Koskenvuo, R. Kozlik-Feldmann, T. Kuehne, A. E. Lammers, H. Latus, I. Michel-Behnke, O. Miera, S. Moledina, V. Muthurangu, J. Pattathu, D. Schranz, G. Warnecke and P. Zartner. Executive summary. Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK. Heart 102 Suppl 2:ii86-100
- K. Hellbach, A. Yaroshenko, K. Willer, T. Pritzke, A. Baumann, N. Hesse, S. Auweter, M. F. Reiser, O. Eickelberg, F. Pfeiffer, A. Hilgendorff and F. G. Meinel. Facilitated Diagnosis of Pneumothoraces in Newborn Mice Using X-ray Dark-Field Radiography. Invest Radiol 5110:597-601
- S. Koene, J. C. Hendriks, I. Dirks, L. de Boer, M. C. de Vries, M. C. Janssen, I. Smuts, C. W. Fung, V. C. Wong, I. R. de Coo, K. Vill, C. Stendel, T. Klopstock, M. J. Falk, E. M. McCormick, R. McFarland, I. J. de Groot and J. A. Smeitink. International Paediatric Mitochondrial Disease Scale. J Inherit Metab Dis 395:705-12
- C. Mignot, C. von Stulpnagel, C. Nava, D. Ville, D. Sanlaville, G. Lesca, A. Rastetter, B. Gachet, Y. Marie, G. C. Korenke, I. Borggraefe, D. Hoffmann-Zacharska, E. Szczepanik, M. Rudzka-Dybala, U. Yis, H. Caglayan, A. Isapof, I. Marey, E. Panagiotakaki, C. Korff, E. Rossier, A. Riess, S. Beck-Woedl, A. Rauch, C. Zweier, J. Hoyer, A. Reis, M. Mironov, M. Bobylova, K. Mukhin, L. Hernandez-Hernandez, B. Maher, S. Sisodiya, M. Kuhn, D. Glaeser, S. Wechuysen, C. T. Myers, H. C. Mefford, K. Hortnagel, S. Biskup, E.-R. E. S. M. A. E. w. g. Euro, J. R. Lemke, D. Heron, G. Kluger and C. Depienne. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. J Med Genet
- C. Lechner, M. Baumann, E. M. Hennes, K. Schanda, K. Marquard, M. Karenfort, S. Leiz, D. Pohl, S. Venkateswaran, M. Pritsch, J. Koch, M. Schimmel, M. Hausler, A. Klein, A. Blaschek, C. Thiels, T. Lucke, U. Gruber-Sedlmayr, B. Kornek, A. Hahn, F. Leypoldt, T. Sandrieser, H. Gallwitz, J. Stoffels, C. Korenke, M. Reindl and K. Rostasy. Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease. J Neurol Neurosurg Psychiatry 878:897-905
- I. K. Koerte, J. Hufschmidt, M. Muehlmann, Y. Tripodis, J. M. Stamm, O. Pasternak, M. Y. Giwerc, M. J. Coleman, C. M. Baugh, N. G. Fritts, F. Heinen, A. Lin, R. A. Stern and M. E. Shenton. Cavum Septi Pellucidi in Symptomatic Former Professional Football Players. J Neurotrauma 334:346-53
- C. Ota, H. A. Baarsma, D. E. Wagner, A. Hilgendorff and M. Konigshoff. Linking bronchopulmonary dysplasia to adult chronic lung diseases: role of WNT signaling. Mol Cell Pediatr 31:34
- S. Meiners and A. Hilgendorff. Early injury of the neonatal lung contributes to premature lung aging: a hypothesis. Mol Cell Pediatr 31:34
- Landgraf MN, Heinen F.. Fetale Alkoholspektrumstörungen - FASD Diagnostik in der Kinder- und Jugendmedizin. Praxisguide der S3 Leitlinie. Monatsschrift Kinderheilkunde
- L. Gerstl, F. Heinen, I. Borggraefe, M. Olivieri, K. Kurnik, T. Nicolai, K. Reiter, S. Berweck, A.S. Schroeder. Pädiatrischer Schlaganfall - ein kiderneurologischer Notfall. Klinik, Diagnostik und Therapie. Monatsschrift Kinderheilkunde s00112-016-0119-6
- M. Spadaro, L. A. Gerdes, M. Krumbholz, B. Ertl-Wagner, F. S. Thaler, E. Schuh, I. Metz, A. Blaschek, A. Dick, W. Bruck, R. Hohlfeld, E. Meinl and T. Kumpfel. Autoantibodies to MOG in a distinct subgroup of adult multiple sclerosis. Neurol Neuroimmunol Neuroinflamm 35:e257
- Z. Lukacs, P. Nieves Cobos, S. Wenninger, T. A. Willis, M. Guglieri, M. Roberts, R. Quinlivan, D. Hilton-Jones, T. Evangelista, S. Zierz, B. Schlotter-Weigel, M. C. Walter, P. Reilich, T. Klopstock, M. Deschauer, V. Straub, W. Muller-Felber and B. Schoser. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology
- K. Johannesen, C. Marini, S. Pfeffer, R. S. Moller, T. Dorn, C. Niturad, E. Gardella, Y. Weber, M. Sondergard, H. Hjalgrim, M. Nikanorova, F. Becker, L. H. Larsen, H. A. Dahl, O. Maier, D. Mei, S. Biskup, K. M. Klein, P. S. Reif, F. Rosenow, A. F. Elias, C. Hudson, K. L. Helbig, S. Schubert-Bast, M. R. Scordo, D. Craiu, T. Djemie, D. Hoffman-Zacharska, H. Caglayan, I. Helbig, J. Serratosa, P. Striano, P. De Jonghe, S. Weckhuysen, A. Suls, K. Muru, I. Talvik, T. Talvik, H. Muhle, I. Borggraefe, I. Rost, R. Guerrini, H. Lerche, J. R. Lemke, G. Rubboli and S. Maljevic. Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. Neurology 8711:1140-51
- L. Gerstl, F. Heinen, A. S. Schroeder, M. Tacke, M. Olivieri, F. Dorn, C. Voll and I. Borggraefe. The "seagull cry": An initial sign in a child with intracranial carotid stenosis. Neurology 878:850-1
- K. Vill, W. Muller-Felber, V. Teusch, A. Blaschek, L. Gerstl, S. Huetker and M. H. Albert. Proximal muscular atrophy and weakness: An unusual adverse effect of deferasirox iron chelation therapy. Neuromuscul Disord 264-5:322-5
- S. M. Krieg, S. Sonanini, N. Sollmann, A. Focke, L. Gerstl and F. Heinen. The Complexity Signature: Developing a Tool to Communicate Biopsychosocial Severity of Disease for Children with Chronic Neurological Complexity. Neuropediatrics 474:238-44
- A. Yaroshenko, T. Pritzke, M. Koschlig, N. Kamgari, K. Willer, L. Gromann, S. Auweter, K. Hellbach, M. Reiser, O. Eickelberg, F. Pfeiffer and A. Hilgendorff. Visualization of neonatal lung injury associated with mechanical ventilation using x-ray dark-field radiography. Sci Rep 6:24269
- F. Heinen, M. N. Landgraf, J. Bohmer, I. Borggrafe, C. Bidlingmaier, K. Krohn, F. Hoffmann, T. Nicolai, M. Weigl, R. von Kries and L. Albers. [The remains of the day: A working day in a university children's hospital]. Z Evid Fortbild Qual Gesundhwes 117:20-26
- M. N. Landgraf, R. M. Giese and F. Heinen. Z Kinder Jugendpsychiatr Psychother Jan 13
2015
Publikationen 2015
- L. Albers, F. Heinen, M. Landgraf, A. Straube, B. Blum, F. Filippopulos, S. Lehmann, U. Mansmann, U. Berger, Y. Akboga and R. von Kries. Headache cessation by an educational intervention in grammar schools: a cluster randomized trial. 2015 Eur J Neurol Volume 222: 270-7,e22
- A. Blaschek, C. Makowski, C. Stadelmann, S. Pfeiffenbrink, W. Müller-Felber. Pädiatrische MS- Diagnose auf Umwegen (2015). Neuropädiatrie in Klinik und Praxis Volume 3
- A. Blaschek, K. Vill, W. Müller-FelberTherapiestudien bei Muskeldystrophie Duchenne. 2015 Kinderärztliche Praxis Volume 4
- A. Enders. Leitsymptom Muskelhypotonie, Differentialdiagnostik bei Neugeborenen und Säuglingen.2015Pädiat. prax. Volume 84:633-645
- A. Hilgendorff, M. A. O'ReillyBronchopulmonary dysplasia early changes leading to long-term consequences. 2015 Front Med (Lausanne). Volume 2:2
- A. Hilgendorff, K. Parai, R. Ertsey, E. Navarro, N. Jain, F. Carandang, J. Peterson, L. Mokres, C. Milla, S. Preuss, M. A. Alcazar, S. Khan, J. Masumi, N. Ferreira-Tojais, S. Mujahid, B. Starcher, M. Rabinovitch and R. Bland . Lung matrix and vascular remodeling in mechanically ventilated elastin haploinsufficient newborn mice. 2015 Am J Physiol Lung Cell Mol Physiol. Volume 3085:L464-78
- A. Tabea, B. Warken, J. V. Graser, T. Ulrich, I. Borggraefe, F. Heinen, A. Meyer-Heim, H. J. van Hedel and A. S. Schroeder. Practical Recommendations for Robot-Assisted Treadmill Therapy (Lokomat) in Children with Cerebral Palsy: Indications, Goal Setting, and Clinical Implementation within the WHO-ICF Framework. 2015. Neuropediatrics Volume 464:248-60
- I. K. Koerte, A. P. Lin, M. Muehlmann, S. Merugumala, H. Liao, T. Starr, D. Kaufmann, M. Mayinger, D. Steffinger, B. Fisch, S. Karch, F. Heinen, B. Ertl-Wagner, M. Reiser, R. A. Stern, R. Zafonte and M. E. Shenton . Altered Neurochemistry in Former Professional Soccer Players without a History of Concussion. 2015J Neurotrauma. 2015 Volume 3217:1287-93
- I. K. Koerte, A. Willems, M. Muehlmann, K. Moll, S. Cornell, S. Pixner, D. Steffinger, D. Keeser, F. Heinen, M. Kubicki, M. E. Shenton, B. Ertl-Wagner and G. Schulte-Korne. Mathematical abilities in dyslexic children: a diffusion tensor imaging study.. 2015. Brain Imaging Behav
- I. K. Koerte, J. Hufschmidt, M. Muehlmann, Y. Tripodis, J. M. Stamm, O. Pasternak, M. Y. Giwerc, M. J. Coleman, C. M. Baugh, N. G. Fritts, F. Heinen, A. P. Lin, R. Stern and M. E. Shenton Cavum Septi Pellucidi in Symptomatic Former Professional Football Players. 2015. J Neurotrauma
- I. K. Koerte, M. Mayinger, M. Muehlmann, D. Kaufmann, A. P. Lin, D. Steffinger, B. Fisch, B. S. Rauchmann, S. Immler, S. Karch, F. R. Heinen, B. Ertl-Wagner, M. Reiser, R. A. Stern, R. Zafonte and M. E. Shenton. Cortical thinning in former professional soccer players. 2015. Brain Imaging Behav
- J. Reunert, A. S. Lotz-Havla, G. Polo, F. Kannenberg, M. Fobker, M. Griese, E. Mengel, A. C. Muntau, P. Schnabel, O. Sommerburg, I. Borggraefe, A. Dardis, A. P. Burlina, M. A. Mall, G. Ciana, B. Bembi, A. B. Burlina and T. Marquardt Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3beta,5alpha,6beta-Triol and Further Insight into the Clinical Phenotype. 2015. JIMP Rep. Volume 23:17-26
- K. Jahn, T. Langhagen and F. Heinen. Vertigo and dizziness in children. 2015. Curr. Opin Neurol. Volume 281:78-82
- K. M. Forster, S. Immler, M. Ensslen, A. Flemmer, A. Schulze, M. von Poblotzki, O. Genzel-Boroviczeny, F. Heinen and A. Hilgendorff [Indications and concept of follow-up care of home-monitoring for premature and risk infants]. 2015 Klin Padiatr. Volume 2272:72-9
- K. Vill, J. Schessl, V. Teusch, S. Schroeder, A. Blaschek, B. Schoser and W. Muller-Felber. Muscle ultrasound in classic infantile and adult Pompe disease: a useful screening tool in adults but not in infants. 2015 Neuromuscul Disord. Volume252:120-6
- K. Vill, L. Ille, S. A. Schroeder, A. Blaschek and W. Muller-Felber. Six-minute walk test versus two-minute walk test in children with Duchenne muscular dystrophy: Is more time more information. 2015. Eur J Paediatr Neurol. Volume196:640-6
- K. Vill, M. Kuhn, D. Glaser and W. Muller-Felber Overlap phenotype between CMT1A and hereditary neuropathy with liability to pressure palsies caused by the novel small in-frame deletion c.407_418del12 in PMP22 gene. 2015. Neuropediatrics. Volume 461:44-8
- K. Vill, M. Kuhn, D. Glaser, M. C. Walter and W. Muller-Felber. Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene. 2015 neuropdiatrics. . Volume 464:282-6
- K. Vill, W. Müller-Felber. Kongenitale Myopathien: Diagnosestellung, Patientenversorgung und differenzialdiagnostische Abgrenzung.2015 Kinderärztliche Praxis. Volume 4:227-231
- L. Albers, A. Straube, M. N. Landgraf, F. Filippopulos, F. Heinen and R. von Kries. Migraine and tension type headache in adolescents at grammar school in Germany - burden of disease and health care utilization. 2015. J Headache Pain. Volume 16:534
- L. Albers, R. von Kries, F. Heinen and A. StraubeHeadache in school children: is the prevalence increasing? 2015. Curr Pain Headache Rep. Voulme 193:4
- M. Baumann, K. Sahin, C. Lechner, E. M. Hennes, K. Schanda, S. Mader, M. Karenfort, C. Selch, M. Hausler, A. Eisenkolbl, M. Salandin, U. Gruber-Sedlmayr, A. Blaschek, V. Kraus, S. Leiz, J. Finsterwalder, T. Gotwald, G. Kuchukhidze, T. Berger, M. Reindl and K. Rostasy. Clinical and neuroradiological differences of paediatric acute disseminating encephalomyelitis with and without antibodies to the myelin oligodendrocyte glycoprotein . 2015. J Neurol Neurosurg Psychiatry. Volume 863:265-72.
- M. C. Walter, M. Rossius, M. Zitzelsberger, M. Vorgerd, W. Muller-Felber, B. Ertl-Wagner, Y. Zhang, H. Brinkmeier, J. Senderek and B. Schoser50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation. 2015. Neuromuscul Disord. Volume 257:577-84
- M. N. Landgraf, B. Ertl-Wagner, I. K. Koerte, J. Thienel, T. Langhagen, A. Straube, R. von Kries, P. Reilich, A. Pomschar and F. Heinen. Alterations in the trapezius muscle in young patients with migraine--a pilot case series with MRI2015. Eur J Paediatr Neurol. Volume 193:372-6
- M. N. Landgraf, R. von Kries, F. Heinen, T. Langhagen, A. Straube and L. AlbersSelf-reported neck and shoulder pain in adolescents is associated with episodic and chronic migraine. 2015. Cephalgia
- M. Tacke and I. Borggraefe. No clinically significant lymphocyte count change in pediatric patients treated with levetiracetam. 2015. Epilepsy Res. Volume114:147-8
- M.N. Landgraf, C. Seubert, F. Heinen, T. Nicolai. Verdacht auf Kindesmisshandlung - Procedere in der Notaufnahme. 2015. Notfall. Volume 18:17-21
- N. Heussinger, E. Kontopantelis, J. Gburek-Augustat, A. Jenke, G. Vollrath, R. Korinthenberg, P. Hofstetter, S. Meyer, I. Brecht, B. Kornek, P. Herkenrath, M. Schimmel, K. Wenner, M. Hausler, S. Lutz, M. Karenfort, A. Blaschek, M. Smitka, S. Karch, M. Piepkorn, K. Rostasy, T. Lucke, P. Weber, R. Trollmann, J. Klepper, M. Haussler, R. Hofmann, R. Weissert, A. Merkenschlager, M. Buttmann and G.-M. for. Oligoclonal bands predict multiple sclerosis in children with optic neuritis. 2015. Ann Neurol. Volume 574:393-6
- N. J. Nedergaard, F. Heinen, S. Sloth, H. C. Holmberg and U. G. Kersting. Biomechanics of the ski cross start indoors on a customised training ramp and outdoors on snow. 2015. Sports Biomech. Volume 5143:273-86.
- N. Lehnen, T. Langhagen, F. Heinen, D. Huppert, T. Brandt and K. Jahn. Vestibular paroxysmia in children: a treatable cause of short vertigo attacks. 2015. Dev Med Child Neurol. Volume 574:393-6
- S. M. Herbst, C. R. Proepper, T. Geis, I. Borggraefe, A. Hahn, O. Debus, M. Haeussler, G. von Gersdorff, G. Kurlemann, M. Ensslen, N. Beaud, J. Budde, M. Gilbert, R. Heiming, R. Morgner, H. Philippi, S. Ross, G. Strobl-Wildemann, K. Muelleder, P. Vosschulte, D. J. Morris-Rosendahl, G. Schuierer and U. HehrLIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. 2015: Brain Dev.
- S. Niedermaier and A. Hilgendorff. Bronchopulmonary dysplasia - an overview about pathophysiologic concepts. 2015. Mol Cell Peditr. Volume 21:2
- S. Rudnik-Schoneborn, D. Tolle, J. Senderek, K. Eggermann, M. Elbracht, U. Kornak, M. von der Hagen, J. Kirschner, B. Leube, W. Muller-Felber, U. . Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients. 2015. Clin Genet
- T. Langhagen, L. Albers, F. Heinen, A. Straube, F. Filippopulos, M. N. Landgraf, L. Gerstl, K. Jahn and R. von Kries. Period Prevalence of Dizziness and Vertigo in Adolescents. 2015. PLoS One. Volume 109 e0136512
- W Müller-Felber. Diagnostik von Polyneuropathien im Kindes- und Jugendalter. 2015. Kinderärztliche Praxis. Volume 4:221-6
2014
Publikationen 2014
- Albers L, Straube A, Landgraf MN, Heinen F, von Kries R. High diagnostic stability of confirmed migraine and confirmed tension-type headache according to the ICHD-3 beta in adolescents.J Headache Pain. 2014 Jun 10;15:36. doi: 10.1186/1129-2377-15-36. PMID: 24916858 [PubMed - in process]
- Baumann M, Sahin K, Lechner C, Hennes EM, Schanda K, Mader S, Karenfort M, Selch C, Häusler M, Eisenkölbl A, Salandin M, Gruber-Sedlmayr U, Blaschek A, Kraus V, Leiz S, Finsterwalder J, Gotwald T, Kuchukhidze G, Berger T, Reindl M, Rostásy K. Clinical and neuroradiological differences of paediatric acute disseminating encephalomyelitis with and without antibodies to the myelin oligodendrocyte glycoprotein. J Neurol Neurosurg Psychiatry. 2014 Aug 13. pii: jnnp-2014-308346. doi: 10.1136/jnnp-2014-308346. [Epub ahead of print]. PMID: 25121570 [PubMed - as supplied by publisher]
- Blaschek A, Decke S, Albers L, Schroeder AS, Lehmann S, Straube A, Landgraf MN, Heinen F, von Kries R. Self-reported neck pain is associated with migraine but not with tension-type headache in adolescents. Cephalalgia. 2014 Feb 19. [Epub ahead of print]. PMID: 24554618 [PubMed - as supplied by publisher]
- Blaschek A, Gläser D, Kuhn M, Schroeder AS, Wimmer C, Heimkes B, Schön C, Müller-Felber W. Early infantile sensory-motor neuropathy with late onset respiratory distress. Neuromuscul Disord. 2014 Mar;24(3): 269-71. doi: 10.1016/j.nmd.2013.11.013. Epub 2013 Dec 1. PMID: 24342282 [PubMed - in process]
- Bechtold S, Blaschek A, Raile K, Dost A, Freiberg C, Askenas M, Fröhlich-Reiterer E, Molz E, Holl RW. Higher relative risk for multiple sclerosis in a pediatric and adolescent diabetic population: analysis from DPV database. Diabetes Care. 2014 Jan;37(1):96-101. doi: 10.2337/dc13-1414. Epub 2013 Aug 29. PMID: 23990514 [PubMed - in process]
- Gallenmüller C, Felber WM, Dusl M, Stucka R, Guergueltcheva V, Blaschek A, von der Hagen M, Huebner A, Müller JS, Lochmüller H, Abicht A. Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK. Neuromuscul Disord. 2014 Jan;24(1):31-5. doi: 10.1016/j.nmd.2013.08.002. Epub 2013 Aug 7. PMID: 24183479 [PubMed - in process]
- Hilgendorff A, Reiss I, Ehrhardt H, Eickelberg O, Alvira CM. Chronic lung disease in the preterm infant. Lessons learned from animal models. Am J Respir Cell Mol Biol. 2014 Feb;50(2):233-45. doi: 10.1165/rcmb.2013-0014TR.
- Juenger H, Koerte IK, Muehlmann M, Mayinger M, Mall V, Krägeloh-Mann I, Shenton ME, Berweck S, Staudt M, Heinen F. Microstructure of transcallosal motor fibers reflects type of cortical (re-)organization in congenital hemiparesis. Eur J Paediatr Neurol. 2014 May 28. pii: S1090-3798(14)00085-3. doi: 10.1016/j.ejpn.2014.05.006. [Epub ahead of print]. PMID: 24993149 [PubMed - as supplied by publisher]
- Jung NH, Brix O, Bernius P, Schroeder AS, Kluger GJ, Beyerlein A, Weir S, von Kries R, Narayanan UG, Mall V, Berweck S. German Translation of the Caregiver Priorities and Child Health Index of Life with Disabilities Questionnaire: Test-Retest Reliability and Correlation with Gross Motor Function in Children with Cerebral Palsy.
- Neuropediatrics. 2014 Apr 3. [Epub ahead of print]. PMID: 24700153 [PubMed - as supplied by publisher]
- Kirschner J, Schorling D, Hauschke D, Rensing-Zimmermann C, Wein U, Grieben U, Schottmann G, Schara U, Konrad K, Müller-Felber W, Thiele S, Wilichowski E, Hobbiebrunken E, Stettner GM, Korinthenberg R. Somatropin treatment of spinal muscular atrophy: a placebo-controlled, double-blind crossover pilot study. Neuromuscul Disord. 2014 Feb;24(2):134-42. doi: 10.1016/j.nmd.2013.10.011. Epub 2013 Nov 13. PMID: 24300782 [PubMed - in process]
- Schroeder AS, Homburg M, Warken B, Auffermann H, Koerte I, Berweck S, Jahn K, Heinen F, Borggraefe I. Prospective controlled cohort study to evaluate changes of function, activity and participation in patients with bilateral spastic cerebral palsy after Robot-enhanced repetitive treadmill therapy. Eur J Paediatr Neurol. 2014 Jul;18(4):502-10. doi: 10.1016/j.ejpn.2014.04.012. Epub 2014 Apr 25. PMID: 24821475 [PubMed - in process)
- Sprinz A, Baethmann M, Heinen F, Staudt M, Kieslich M. Syllabus Neuropädiatrie 2.0 - Strukturen, Qualität und Perspektiven der ambulanten, stationären und rehabilitativen Versorgung - Teil 3. Neuropediatrics. 2014 Aug;45(4):266-72. doi: 10.1055/s-0034-1384835. Epub 2014 Jul 29. No abstract available. PMID: 25073086 [PubMed - in process]
- Wirsching A, Müller-Felber W, Schoser B. Are evoked potentials in patients with adult-onset pompe disease indicative of clinically relevant central nervous system involvement? J Clin Neurophysiol. 2014 Aug;31(4):362-6. doi: 10.1097/WNP.0000000000000084. PMID: 25083849 [PubMed - in process]
2011–2013
Publikationen 2011–2013
- Albers L, Milde-Busch A, Bayer O, Lehmann S, Riedel C, Bonfert M, Heinen F, Straube A, von Kries R. Prevention of headache in adolescents: population-attributable risk fraction for risk factors amenable to intervention. Neuropediatrics. 2013 Feb;44(1):40-5.
- Bernhard MK, Syrbe S, Landgraf M, Merkenschlager A. Persistierende Wolfsmilchgewächs-Intoxikation. Chronisches Erschöpfungs- und Schmerzsyndrom bei einer 12-jährigen Patientin. Kinder- und Jugendmedizin 2011; 11: 211-212
- Blaschek A, Milde-Busch A, Straube A, Schankin C, Langhagen T, Jahn K, Schröder SA, Reiter K, von Kries R, Heinen F. Self-reported muscle pain in adolescents with migraine and tension-type headache. Cephalalgia. 2012, Feb;32(3):241-9.
- Blaschek A, Storm van's Gravesande K, Heinen F, Pritsch M, Mall V, Calabrese P. Neuropsychological aspects of childhood multiple sclerosis: an overview. Neuropediatrics. 2012 Aug;43(4):176-83.
- Blaschek et al. Early white matter changes in childhood multiple sclerosis: A diffusion tensor imaging study. AJNR 2013 Oct; 34(10): 2015-20
- Blaschek A, Kümpfel T, Hohlfeld R, Ertl-Wagner B, Müller-Felber W, Heinen F. Transition als Kernaufgabe der Pädiatrischen Neurologie Beispiel iSPZLMU - Multiple Sklerose (MS). Report Versorgungsforschung, 2012; 187-192
- Bonfert M, Straube A, Schroeder AS, Reilich P, Ebinger F, Heinen F. Primary headache in children and adolescents: update on pharmacotherapy of migraine and tension-type headache. Neuropediatrics. 2013 Feb;44(1):3-19.
- Borggraefe, I., Heinen, F., and Noachtar, S. (2011). Anforderungen an ein Epilepsiezentrum für Kinder und Jugendliche. Zeitschrift für Epileptologie 24, 167-171.
- Borggraefe I, Bonfert M, Bast T, Neubauer BA, Schotten KJ, Maßmann K, Noachtar S, Tuxhorn I, May TW, Heinen F; German HEAD Study Group. Levetiracetam vs. sulthiame in benign epilepsy with entrotemporal spikes in childhood: a double-blinded, randomized, controlled trial (German HEAD Study). Eur J Paediatr Neurol. 2013 Sep;17(5):507-14.
- Byrne BJ, Kishnani PS, Case LE, Merlini L, Müller-Felber W, Prasad S, van der Ploeg A. Pompe disease: design, methodology, and early findings from the Pompe Registry. Mol Genet Metab. 2011 May;103(1):1-11. doi:10.1016/j.ymgme.2011.02.004. Epub 2011 Feb 11. Erratum in: Mol Genet Metab. 2011, Nov;104(3):424. PubMed PMID: 21439876.
- Cornell SA, Lahiri A, Eulitz C. (2011). "What you encode is not necessarily what you store": evidence for sparse feature representations from mismatch negativity. Brain Research; 1394:79-89.
- Enders A. Neurobiologische Grundlagen zum Verständnis des therapeutischen Vorgehens im Castillo Morales-Konzept. Medizinsch-Therapeutische Grundlagen: Das Kind mit muskulärer Hypotonie, Das Kind mit Trisomie 21, Kinder mit orofazialen Problemen, Das Kind mit Cerebralparese. In Türk C, Söhlemann S, Rummel H (Hrsg.): Das Castillo Morales-Konzept, Thieme Verlag 2012
- Ensslen M, Blaschek A, Penzien J, Borggräfe I (2011). Epileptischer Phänotyp der Anti-NMDAR-Enzephalitis. 37. Jahrestagung der Gesellschaft für Neuropädiatrie. Garmisch-Partenkirchen.
- Ensslen, M, Wörnle M, Weber L, Heinen F, Borggräfe I. (2012). Akuttherapieder NMDAR-Enzephalitis: Immunadsorption im Rahmen eines therapierefrsktären Status epilepticus. 38. Jahrestagung der Gesellschaft für Neuropädiatrie Münster.
- Ensslen, M., Mehrkens, J.H., Bötzel, K., Schröder, A.S., Müller-Felber, W., Heinen, F., and Borggraefe, I. (2011). Dystonien im Kindesalter. Monatsschrift Kinderheilkunde 159, 17-24.
- Ertl-Wagner B, Koerte I, Kuempfel T, Blaschek A et al. (2011). Non-specific alterations of craniocervical venous drainage in multiple sclerosis assessed by cardiac-gated phase-contrast MR imaging. Multiple Scler. Epub ahead of print
- Ertl-Wagner B, Koerte I, Kümpfel T, Blaschek A, Laubender RP, Schick M, Steffinger D, Kaufmann D, Heinen F, Reiser M, Alperin N, Hohlfeld R. Non-specific alterations of craniocervical venous drainage in multiple sclerosis revealed by cardiac-gated phase-contrast MRI. Mult Scler. 2012 Jul;18(7):1000-7.
- Frühe B, Allgaier AK, Pietsch K, Baethmann M, Peters J, Kellnar S, Heep A, Burdach S, von Schweinitz D, Schulte-Körne G (2012). Children's Depression Screener (ChilD-S): development and validation of a depression screening instrument for children in pediatric care. Child Psychiatry and Human Development, 43 (1): 137-151
- Frühe B, Allgaier AK, Pietsch K, Schulte-Körne G (2012). Depressions-Screening bei pädiatrischen Patienten: Ein Vergleich der konkurrenten Validität des Depressionsinventars für Kinder und Jugendliche, des Depressionstest für Kinder und des Childrens Depression Screeners. Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie, 40 (3): 161-169
- Gallenmüller C, Felber WM, Dusl M, Stucka R, Guergueltcheva V, Blaschek A, von der Hagen M, Huebner A, Müller JS, Lochmüller H, Abicht A. Salbutamol-responsivelimb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK. Neuromuscul Disord. 2013 Aug 7. doi:pii:S0960-8966(13)00933-4. 10.1016/j.nmd.2013.08.002. [Epub ahead of print] PubMed PMID: 24183479.
- Goebel HH, Blaschek A. Protein aggregation in congenital myopathies. Semin Pediatr Neurol. 2011; 18(4): 272-6
- Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H. Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am J Hum Genet. 2011 Oct 7;89(4):543-50. doi: 10.1016/j.ajhg.2011.09.007. PubMed PMID: 21981780; PubMedCentral PMCID: PMC3188837.
- Heinen F. Headaches in childhood and adolescence. Neuropediatrics. 2013 Feb;44(1):1-2.
- Hilgendorff A, Parai K, Ertsey R, Rey-Parra GJ, Thebaud B, Tamosiuniene R, Jain N, Navarro EF, Starcher BC, Nicolls MR, Rabinovitch M, Bland RD (2012). Neonatal Mice Genetically Modified to Express the Elastase Inhibitor Elafin are Protected Against the Adverse Effects of Mechanical Ventilation on Lung Growth. Am J Physiol Lung Cell Mol Physiol. Epub ahead of print
- Hilgendorff A, Parai K, Ertsey R, Jain N, Navarro EF, Peterson JL, Tamosiuniene R, Nicolls MR, Starcher BC, Rabinovitch M, Bland RD (2011). Inhibiting lung elastase activity enables lung growth in mechanically ventilated newborn mice. Am J Respir Crit Care Med. 1;184(5):537-46.
- Holdenried M, Schenck TL, Akpaloo J, Müller-Felber W, Holzbach T, Giunta RE. [Quality of life after brachial plexus lesions in adults]. Handchir Mikrochir Plast Chir. 2013 Aug;45(4):229-34. doi: 10.1055/s-0033-1353161. Epub 2013 Aug 22. German. PubMed PMID: 23970402.
- Jahn K, Langhagen T, Schroeder AS, Heinen F (2011). Vertigo and dizziness in childhood - update on diagnosis and treatment. Neuropediatrics. 42(4):129-34. Epub 2011 Jul 15. Review.
- Kirschner J, Schorling D, Hauschke D, Rensing-Zimmermann C, Wein U, Grieben U, Schottmann G, Schara U, Konrad K, Müller-Felber W, Thiele S, Wilichowski E, Hobbiebrunken E, Stettner GM, Korinthenberg R. Somatropin treatment of spinal muscular atrophy: A placebo-controlled, double-blind crossover pilot study. Neuromuscul Disord. 2013 Nov 13. doi:pii: S0960-8966(13)00991-7.10.1016/j.nmd.2013.10.011. [Epub ahead of print] PubMed PMID: 24300782.
- Koerte IK, Schroeder AS, Fietzek UM, Borggraefe I, Kerscher M, Berweck S, Reiser M, Ertl-Wagner B, Heinen F. Muscle atrophy beyond the clinical effect after a single dose of OnabotulinumtoxinA injected in the procerus muscle: a study with magnetic resonance imaging. Dermatol Surg. 2013 May;39(5):761-5.
- Koerte IK, Schankin CJ, Immler S, Lee S, Laubender RP, Grosse C, Eftimov L, Milde-Busch A, Reiser M, Straube A, Heinen F, Alperin N, Ertl-Wagner B. Altered cerebrovenous drainage in patients with migraine as assessed by phase-contrast magnetic resonance imaging. Invest Radiol. 2011 Jul;46(7):434-40.
- Koerte I, Pelavin P, Kirmess B, Fuchs T, Berweck S, Laubender RP, et al. Anisotropy of transcallosal motor fibres indicates functional impairment in children with periventricular leukomalacia. Dev Med Child Neurol 2011; 53: 179-86.
- Kornek B, Aboul-Enei F, Rostasy K, Milos RI, Steiner I, Penzie P, Hellwig K , Pitarokoili K, Storm van's Gravesande K, Karenfor M, Blaschek A, Meyer A, Seidl R, Debelic D, Vass K, Prayer D, Kristoferitsch W and Bayas A. Natalizumab therapy in highly active pediatric multiple sclerosis. JAMA Neurol. 2013 April; 70(4): 469-75
- Kornek B, Schmitl B, Vass K, Zehetmayer S, Prtisch M, Penzin J, Karenfort M, Blaschek A, Seidl R, Prayer D, Rostasy K. Evaluation of the 2010 McDonald multiple sclerosis criteria in children with a clinically isolated syndrome. Mult.Scler. 2012, 18 (12): 1768-74
- Kropp P, Meyer B, Landgraf M, Ruscheweyh R, Ebinger F, Straube A. Headache in children: update on biobehavioral treatments. Neuropediatrics. 2013;44(1):20-4
- Kunz M, Lehner M, Heger A,Armbrust L, Weigand H, Peraud A. Neurodevelopmental and esthetic resultsbin children after surgical corrsction of metopic suture synostosis: a single institutional experience. Child Nerv Syst. 2013 Dec 13 (Epub ahead).
- Kümpfel T, Gerdes LA, Wacker T, Blaschek A, et al. Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple sclerosis. Mult.Scler. 2012, 18(9):1229-38
- Landgraf M, Heinen F (2012). Development of an evidence- and consensus-based guideline for the diagnosis of fetal alcohol syndrome in Germany. Neuropediatrics 43.
- Landgraf M, Heinen F. Entwicklung einer Evidenz- und Konsens- basierten Leitlinie zur Diagnose des fetalen Alkoholsyndroms in Deutschland. Neuropädiatrie in Klinik und Praxis 2012.
- Landgraf MN, Nothacker M, Kopp IB, Heinen F. The Diagnosis of Fetal Alcohol Syndrome. Dtsch Arztebl Int. 2013 Oct;110(42):703-710.
- Landgraf MN, Nothacker M, Heinen F. Diagnosis of fetal alcohol syndrome (FAS): German guideline version 2013. Eur J Paediatr Neurol. 2013 Sep;17(5):437-46.
- Landgraf M, Heinen F. S3-Leitlinie: Fetales Alkoholsyndrom - Diagnostik. http://www.awmf.org/leitlinien/detail/ll/022-025.html
- Landgraf MN, Nothacker M., Heinen F. Diagnosis of Fetal Alcohol Syndrome (FAS): German Guideline Version 2013. Eur J Paediatr Neurol. 2013;17(5):437-46.
- Landgraf M, Bernhard M. K., Syrbe S, Sorge I, Hirsch W, Schmiedek P, Merkenschlager A. Moyamoya-Erkrankungen - eine seltene Gefäßerkrankung mit neurologischen Ausfällen bei Manifestation. Fallbericht über einen acht Jahre alten Jungen vietnamesischer Herkunft. Kinder- und Jugendmedizin 2012; 12: 115-119.
- Langhagen T, Schroeder AS, Rettinger N, Borggraefe I, Jahn K. Migraine-related vertigo and somatoform vertigo frequently occur in children and are often associated. Neuropediatrics 2013; 44: 55-8.
- Lehmann S, Milde-Busch A, Straube A, von Kries R, Heinen F. How specific are risk factors for headache in adolescents? Results from a cross-sectional study in Germany. Neuropediatrics. 2013 Feb;44(1):46-54.
- Mainberger F, Zenker M, Jung NH, Delvendahl I, Brandt A, Freudenberg L, Heinen F, Mall V. Impaired motor cortex plasticity in patients with Noonan syndrome. Clin Neurophysiol. 2013 Dec;124(12):2439-44.
- Mainberger F, Jung NH, Zenker M, Wahlländer U, Freudenberg L, Langer S, Berweck S, Winkler T, Straube A, Heinen F, Granström S, Mautner VF, Lidzba K, Mall V. Lovastatin improves impaired synaptic plasticity and phasic alertness in patients with neurofibromatosis type 1. BMC Neurol. 2013 Oct 2;13:131. doi: 10.1186/1471-2377-13-131.
- Merkl M, Beblo S, Wand D, Nickel P, Bigl A, Landgraf M, Merkenschlager A, Bernhard MK. Coumarin embryopathy and palmo-plantar hyperkeratosis in an 8-year-old boy. Kinder- und Jugendmedizin 2011; 11: 213-215.
- Milde-Busch A, Straube A, Heinen F, von Kries R. Identified risk factors and adolescents' beliefs about triggers for headaches: results from a cross-sectional study. J Headache Pain. 2012 Nov;13(8):639-43.
- Milde-Busch A, Blaschek A, Heinen F et al. Associations between stress and migraine and tension-type headache: results from a school-based study in adolescents from grammar schools in Germany. Cephalagia 2011, 31: 774-785
- Muehlmann M, Koerte IK, Laubender RP, Steffinger D, Lehner M, Peraud A, Heinen F, Kiefer M, Reiser M, Ertl-Wagner B. Magnetic resonance-based estimation of intracranial pressure correlates with ventriculoperitoneal shunt valve opening pressure setting in children with hydrocephalus. Invest Radiol. 2013 Jul;48(7):543-7.
- Muller-Felber W, Wanschitz J, Vill K, Baumann M. Pediatric idiopathic inflammatory myopathies: an update on diagnostic and treatment strategies. Neuropediatrics. 2013 Dec;44(6):314-23. doi: 10.1055/s-0033-1358600. Epub 2013 Nov 7. PubMed PMID: 24203857.
- Olivieri M, Bidlingmaier C, Schetzeck S, Borggrafe I, Geisen C, Kurnik K. Arterial thrombosis in homozygous antithrombin deficiency. Hamostaseologie 2012; 32 Suppl 1: S79-82.
- Pietsch K, Allgaier AK, Frühe B, Rohde S, Hosie S, Heinrich M, Schulte-Körne G (2011). Screening for depression in adolescent paediatric patients: validity of the new Depression Screener for Teenagers (DesTeen). Journal of Affective Disorders, 133 (1-2): 69-75
- Pomschar A, Koerte I, Lee S, Laubender RP, Straube A, Heinen F, Ertl-Wagner B, Alperin N. MRI evidence for altered venous drainage and intracranial compliance in mild traumatic brain injury. PLoS One. 2013;8(2):e55447.
- Proebstel AK, Dormmair K, Bittner R. et al. Antibodies to MOG are transient in childhodd acute disseminated encephalomyelitis. Neurology 2011,77: 580-8
- Regnery C, Kornblum C, Hanisch F, Vielhaber S, Strigl-Pill N, Grunert B, Müller-Felber W, Glocker FX, Spranger M, Deschauer M, Mengel E, Schoser B. 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J Inherit Metab Dis. 2012 Sep;35(5):837-45. Epub 2012 Jan 31. PubMed PMID: 22290025.
- Roberts M, Kishnani PS, van der Ploeg AT, Müller-Felber W, Merlini L, Prasad S, Case LE. The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry. Mol Genet Metab. 2011 Dec;104(4):574-82. doi: 10.1016/j.ymgme.2011.08.011. Epub 2011 Aug 16. PubMed PMID: 21930409.
- Roser T, Bonfert M, Ebinger F, Blankenburg M, Ertl-Wagner B, Heinen F. Primary versus secondary headache in children: a frequent diagnostic challenge in clinical routine. Neuropediatrics. 2013 Feb;44(1):34-9.
- Rostasy K, Mader S, Schanda K, Huppke P, Gärtner J, Busch V, Karenfurt M, Tibussek D, Blaschek A, Kornek B, Leitz YS, Schimmel M, DiPauli F, Berger T, Reindl M. Anti-myelin oligodendrocyte glycoprotein antibodies in pediatric patients with optic neuritis. Arch Neurology 2012, 69(6): 752-6
- Rostasy K, Mader S, Hennes E, Schanda K, Gredler V, Guenther A, Blaschek A, Korenke C, Pritsch M, Pohl D, Maier O, Kuchukhidze G, Brunner-Krainz M, Berger T, Reindl M. Persisting myelin oligodendrocyte glycoprotein antibodies in aquaporin-4 antibody negative pediatric neuromyelitis optica. Mult.Scler.2012 July; 19(8): 1052-9
- Schenck TL, Bayer T, Enders A, Marton MA, Machens HG, Müller-Felber W, Giunta RE. [Splints in birth-related brachial plexus injuries]. Handchir Mikrochir Plast Chir. 2011 Apr;43(2):105-11. doi: 10.1055/s-0031-1271660. Epub 2011 Apr 20. German. PubMed PMID: 21509702.
- Schetzek S, Heinen F, Kruse S, Borggraefe I, Bonfert M, Gaul C, Gottschling S, Ebinger F. Headache in children: update on complementary treatments. Neuropediatrics. 2013 Feb;44(1):25-33.
- Schroeder AS, Fietzek UM, Pavicic T, Stehr M, Baumann AC, Ruzicka T, Heinen F (2011). Botulinum toxin--the all-rounder in medicine. MMW Fortschr Med. 27;153(4):33-9; German. No abstract available.
- Schmidt B, Anderson PJ, Doyle LW, Dewey D, Grunau RE, Asztalos EV, Davis PG, Tin W, Moddemann D, Solimano A, Ohlsson A, Barrington KJ, Roberts RS (2012). Survival without disability to age 5 years after neonatal caffeine therapy for apnea of prematurity. Caffeine for Apnea of Prematurity (CAP) Trial Investigators. JAMA 18;307(3):275-82.
- Schroeder AS, Kling T, Huss K, Borggraefe I, Koerte IK, Blaschek A, Jahn K, Heinen F, Berweck S. Botulinum toxin type A and B for the reduction of hypersalivation in children with neurological disorders: a focus on effectiveness and therapy adherence. Neuropediatrics. 2012 Feb;43(1):27-36
- Schroeder AS, Huss K, Blaschek A, Koerte IK, Zeykan B, Roser T, Langhagen T, Schwerin A, Berweck S, Reilich P, Schaefer J, Straube A, Heinen F. Ten-year follow-up in a case series of integrative botulinum toxin intervention in adolescents with chronic daily headache and associated muscle pain. Neuropediatrics. 2012 Dec;43(6):339-45
- Schroeder AS, Kappler M, Bonfert M, Borggraefe I, Schoen C, Reiter K. Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI-CDG). J Inherit Metab Dis 2010; 33 Suppl 3: S497-502.
- Stavrinou P, Kunz M, Lehner M, Heger A, Müller-Felber W, Tonn JC, Peraud A. Children with tethered cord syndrome of different etiology benefit from microsurgery-a single institution experience. Childs Nerv Syst. 2011 May;27(5):803-10. doi: 10.1007/s00381-010-1374-9. Epub 2011 Jan 6. PubMed PMID: 21210127.
- Tezer FI, Agan K, Borggraefe I, Noachtar S. Seizure semiology reflects spread from frontal to temporal lobe: evolution of hyperkinetic to automotor seizures as documented by invasive EEG video recordings. Epileptic Disord 2013; 15: 338-41.
Vor 2011
Publikationen vor 2011
- Bernhard MK, Landgraf M, Syrbe S, Merkenschlager A (2010). Stiripentol, Eslicarbazepinacetat & Co. Die neuesten Antiepileptika. Kinder- und Jugendmedizin 10: 234-237.
- Blaschek A, Lohse P, Huss k, Borggraefe I, Mueller-Felber W, Heinen F, Hohlfeld R, Kümpfel T. (2010). Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a case of childhood multiple sclerosis. Mult. Scler. 16: 1517-1520
- Borggraefe, I., Kiwull, L., Schaefer, J.S., Koerte, I., Blaschek, A., Meyer-Heim, A., and Heinen, F. (2010a). Sustainability of motor performance after robotic-assisted treadmill therapy in children: an open, non-randomized baseline-treatment study. Eur J Phys Rehabil Med 46, 125-131.
- Borggraefe, I., Klaiber, M., Schuler, T., Warken, B., Schroeder, S.A., Heinen, F., and Meyer-Heim, A. (2010b). Safety of robotic-assisted treadmill therapy in children and adolescents with gait impairment: a bi-centre survey. Dev Neurorehabil 13, 114-119.
- Borggraefe, I., Mehrkens, J.H., Telegravciska, M., Berweck, S., Botzel, K., and Heinen, F. (2010c). Bilateral pallidal stimulation in children and adolescents with primary generalized dystonia--report of six patients and literature-based analysis of predictive outcomes variables. Brain Dev 32, 223-228.
- Borggraefe, I., Peraud, A., and Noachtar, S. (2010d). Epilepsy surgery: Curative Therapy in Pharmaco-resistent Epilepsies in Children and Adults. MMW, Fortschritte der Medizin 157, 35-37.
- Borggraefe, I., Schaefer, J.S., Klaiber, M., Dabrowski, E., Ammann-Reiffer, C., Knecht, B., Berweck, S., Heinen, F., and Meyer-Heim, A. (2010e). Robotic-assisted treadmill therapy improves walking and standing performance in children and adolescents with cerebral palsy. Eur J Paediatr Neurol.
- Chitnis T et al. Consensus Statement evaluation of new and existing therapeutics for pediatric multiple sclerosis. Mult. Scler. 18:116-27.
- Cornell, S.A., Lahiri A. & Eulitz, C. (2010). Perceiving manner- and place-of-articulation contrasts in speech: An MMN study. Annual Cognitive Neuroscience Society Meeting, Montreal, Kanada, April 2010
- Enders A. (2010). Der hypotone Säugling – Eine klinische Herausforderung, Monatsschrift Kinderheilkunde 158 (9): 889-898.
- Enders A, Häufige neuromuskuläre Erkrankungen. In Hüte-Becker (Hrgs.) Physiotherapie in der Pädiatrie, Thieme Verlag, 2.Auflage (2010): 289-293.
- Enders A, Timo lächelt mich nicht an – Entwicklungsstörungen früh erfassen, erkennen, differenzieren. In Noterdaeme M und Freisleder J (Hrsg.): Entwicklungsstörungen im Überblick, Zuckschwerdt Verlag 2010.
- Fietzek UM, Schroeder AS, Wissel J, Heinen F, Berweck S. (2010) Split-screen video demonstration of sonography-guided muscle identification and injection of botulinum toxin. Mov Disord. 25(13):2225-8.
- Giunta RE, Enders A, Lukas B, Marton M, Müller-Felber W (2010). Geburtstraumatische Armplaxusparese . Eine interdisziplinäre Herausforderung. Monatsschrift Kinderheilkunde 158(1): 262-272.
- Heinen, F., Desloovere, K., Schroeder, A.S., Berweck, S., Borggraefe, I., van Campenhout, A., Andersen, G.L., Aydin, R., Becher, J.G., Bernert, G., et al. (2010). The updated European Consensus 2009 on the use of Botulinum toxin for children with cerebral palsy. Eur J Paediatr Neurol 14, 45-66.
- Hentschel R, Dittrich F, Hilgendorff A, Wauer R, Westmeier M, Gortner L (2009). Neurodevelopmental outcome and pulmonary morbidity two years after early versus late surfactant treatment: does it really differ? Acta Paediatr. 98(4):654-9.
- Hilgendorff A, Daiminger A, Dangel V, Kreuder J, Geidel C, Reiss I, Enders G (2009). Oral Valganciclovir treatment in a CMV congenital infected infant with sensorineural hearing loss (SNHL) first detected at 4 months of age. Klin Padiatr. 221(7):448-9.
- Koerte I, Eftimov L, Laubender RP, Esslinger O, Schroeder AS, Ertl-Wagner B, Wahllaender-Danek U, Heinen F, Danek A (2010). Mirror movements in healthy humans across the lifespan: effects of development and ageing. Dev Med Child Neurol. 52(12):1106-12. doi: 10.1111/j.1469-8749.2010.03766.x. Epub 2010 Oct 11.
- Krause E, Heinen F, Gürkov R (2010). Difference in outcome of botulinum toxin treatment of essential palatal tremor in children and adults. Am J Otolaryngol. 31(2):91-5. Epub 2009 Mar 27.
- Landgraf M, Siekmeyer M, Fischer L, Bierbach U, Siekmeyer W, Meixensberger J, Hirsch W, Kiess W (2010). Coincidence of immune thrombocytopenia, intracranial hemorrhage and graft-versus-host disease in an 11-year-old girl. Klin Padiatr. 222: 378-82.
- Landgraf M, Zahner L, Nickel P, Till H, Keller A, Geyer C, Schwanitz N, Gausche R, Schmutzer G, Brähler E, Kiess W (2010). Kindesmisshandlung: Soziodemographie, Ausmaß und medizinische Versorgung – Retrospektive Analyse von 59 Patienten/-innen. Monatsschrift Kinderheilkunde 158: 149-156.
- Love SC, Novak I, Kentish M, Desloovere K, Heinen F, Molenaers G, O'Flaherty S, Graham HK; Cerebral Palsy Institute (2010). Botulinum toxin assessment, intervention and after-care for lower limb spasticity in children with cerebral palsy: international consensus statement. Eur J Neurol. 17 Suppl 2:9-37.
- Mehrkens, J.H., Borggraefe, I., Feddersen, B., Heinen, F., and Botzel, K. (2010). Early Globus Pallidus Internus Stimulation in Pediatric Patients With Generalized Primary Dystonia: Long-Term Efficacy and Safety. J Child Neurol.
- Mettin RR, Bernhard MK, Landgraf M, Merkenschlager A, Bergmann L, Hirsch W, Sorge I, Kiess W, Syrbe S (2010). Der Tuberöse-Sklerose-Komplex. Kinder- und Jugendmedizin 10: 477-484.
- Milde-Busch, A., Blaschek, A., Borggrafe, I., Heinen, F., Straube, A., and von Kries, R. (2010a). Associations of Diet and Lifestyle With Headache in High-School Students: Results From a Cross-Sectional Study. Headache.
- Milde-Busch, A., Blaschek, A., Borggrafe, I., von Kries, R., Straube, A., and Heinen, F. (2010b). Is There an Association between the Reduced School Years in Grammar Schools and Headache and Other Health Complaints in Adolescent Students? Klin Padiatr.
- Mokres LM, Parai K, Hilgendorff A, Ertsey R, Alvira CM, Rabinovitch M, Bland RD (2010). Prolonged mechanical ventilation with air induces apoptosis and causes failure of alveolar septation and angiogenesis in lungs of newborn mice. Am J Physiol Lung Cell Mol Physiol. 298(1):L23-35.
- Noterdaeme M und Enders A (Hrsg.): Autismus-Spektrum-Störugen (ASS), Ein Integratives Lehrbuch für die Praxis, Kohlhammer Verlag 2010.
- Schroeder AS, Koerte I, Berweck S, Ertl-Wagner B, Heinen F (2010). How doctors think--and treat with botulinum toxin. Dev Med Child Neurol. 52(9):875-6. Epub 2010 May 10. No abstract available.
- Schroeder AS, Ertl-Wagner B, Britsch S, Schröder JM, Nikolin S, Weis J, Müller-Felber W, Koerte I, Stehr M, Berweck S, Borggraefe I, Heinen F (2009). Muscle biopsy substantiates long-term MRI alterations one year after a single dose of botulinum toxin injected into the lateral gastrocnemius muscle of healthy volunteers. Mov Disord. 30;24(10):1494-503.