Fachpublikationen
Publikationen Neurologie 2023
Stand 05.02.2024
- Bartels, F., B. Baumgartner, A. Aigner, G. Cooper, A. Blaschek, E. M. Wendel, A. Bertolini, M. Karenfort, M. Baumann, R. Cleaveland, A. Wegener-Panzer, S. Leiz, M. Salandin, P. Krieg, T. Reindl, M. Reindl, C. Finke, and K. Rostasy. "Impaired Brain Growth in Myelin Oligodendrocyte Glycoprotein Antibody-Associated Acute Disseminated Encephalomyelitis." Neurol Neuroimmunol Neuroinflamm 10, no. 2 (Mar 2023). https://dx.doi.org/10.1212/NXI.0000000000200066.
- Blaschek, A., A. Sitzberger, M. Brugger, E. Graf, R. Berutti, M. Zech, and K. Vill. "Taok1-Related Neurodevelopmental Disorder: A New Differential Diagnosis for Childhood-Onset Tremor?", Parkinsonism Relat Disord 109 (Apr 2023): 105320. https://dx.doi.org/10.1016/j.parkreldis.2023.105320.
- Boekstegers, A., H. Schmidt, M. Kurzay, T. Vallee, E. Jung, I. Dubinski, R. Maxwell, and I. Schmid. "Cortisol Response in Children with Cancer and Fever During Chemotherapy: A Prospective, Observational Study Using Random Serum Cortisol Levels." Cancer Med 12, no. 8 (Apr 2023): 9247-59. https://dx.doi.org/10.1002/cam4.5667.
- 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 16, no. 1 (2023): 83-98. https://dx.doi.org/10.3233/PRM-220020.
- Bonfert, M. V., A. Meuche, G. Urban, C. Borner, U. Breuer, B. Warken, C. Wimmer, H. Strattner, T. Muller, M. Hosl, F. Heinen, S. Berweck, and S. A. Schroder. "Feasibility of Functional Repetitive Neuromuscular Magnetic Stimulation (Frnms) Targeting the Gluteal Muscle in a Child with Cerebral Palsy: A Case Report." Phys Occup Ther Pediatr 43, no. 3 (2023): 338-50. https://dx.doi.org/10.1080/01942638.2022.2138732.
- 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 33, no. 9 (Apr 25 2023): 5547-56. https://dx.doi.org/10.1093/cercor/bhac441.
- Bonke, E. M., A. Clauwaert, S. M. Hillmann, U. Tacke, C. Seer, E. Yhang, Y. Tripodis, S. B. Sandmo, T. L. T. Wiegand, D. Kaufmann, E. Kaufmann, S. B. Richmond, M. Gaubert, J. Seitz-Holland, A. Leemans, S. P. Swinnen, R. Bahr, O. Pasternak, F. Heinen, I. K. Koerte, M. V. Bonfert, and J. Gooijers. "Neurological Soft Signs Are Associated with Reduced Medial-Lateral Postural Control in Adolescent Athletes." J Neurol Sci 445 (Feb 15 2023): 120516. https://dx.doi.org/10.1016/j.jns.2022.120516.
- Borner-Schroder, C., M. Lang, G. Urban, E. Zaidenstadt, J. Staisch, A. Hauser, I. Hannibal, K. Huss, B. Klose, M. F. Lechner, N. Sollmann, M. N. Landgraf, F. Heinen, and M. V. Bonfert. "Neuromodulation in Pediatric Migraine Using Repetitive Neuromuscular Magnetic Stimulation: A Feasibility Study." Children (Basel) 10, no. 11 (Oct 30 2023). https://dx.doi.org/10.3390/children10111764.
- Brunet, T., B. Zott, V. Lieftuchter, D. Lenz, A. Schmidt, P. Peters, R. Kopajtich, M. Zaddach, H. Zimmermann, I. Huning, D. Ballhausen, C. Staufner, A. Bianzano, J. Hughes, R. W. Taylor, R. McFarland, A. Devlin, M. Mihaljevic, N. Barisic, M. Rohlfs, S. Wilfling, N. Sondheimer, S. Hewson, N. M. Marinakis, K. Kosma, J. Traeger-Synodinos, M. Elbracht, M. Begemann, S. Trepels-Kottek, D. Hasan, M. Scala, V. Capra, F. Zara, A. T. van der Ven, J. Driemeyer, C. Apitz, J. Kramer, A. Strong, H. Hakonarson, D. Watson, J. A. Mayr, H. Prokisch, T. Meitinger, I. Borggraefe, J. Spiegler, I. Baric, M. Paolini, L. Gerstl, and M. Wagner. "De Novo Variants in Rnf213 Are Associated with a Clinical Spectrum Ranging from Leigh Syndrome to Early-Onset Stroke." Genet Med 26, no. 2 (Nov 1 2023): 101013. https://dx.doi.org/10.1016/j.gim.2023.101013.
- Burgard, C., M. J. Zacherl, A. Todica, J. Hornung, F. Grawe, I. Pekrul, P. Zimmermann, C. Schmid-Tannwald, R. Ladurner, D. Krenz, A. Trupka, J. Wagner, P. Bartenstein, C. Spitzweg, and V. Wenter. "Primary Presentation and Clinical Course of Pediatric and Adolescent Patients with Differentiated Thyroid Carcinoma after Radioiodine Therapy." Front Oncol 13 (2023): 1237472. https://dx.doi.org/10.3389/fonc.2023.1237472.
- Cunitz, K., I. Holloway, A. Harzendorf, S. Greving, M. Zeldovich, U. Krenz, D. Timmermann, I. K. Koerte, M. V. Bonfert, S. Berweck, M. Kieslich, K. Brockmann, M. Roediger, A. Buchheim, N. Andelic, M. Lendt, M. Staebler, H. Muehlan, and N. von Steinbuechel. "Health-Related Quality of Life after Pediatric Traumatic Brain Injury: A Quantitative Comparison between Children's and Parents' Perspectives of the Qolibri-Kid/Ado Questionnaire." J Clin Med 12, no. 23 (Nov 30 2023). https://dx.doi.org/10.3390/jcm12237439.
- de Sainte Agathe, J. M., B. Pode-Shakked, S. Naudion, V. Michaud, B. Arveiler, P. Fergelot, J. Delmas, B. Keren, C. Poirsier, F. S. Alkuraya, B. Tabarki, E. Bend, K. Davis, M. Bebin, M. L. Thompson, E. M. Bryant, M. Wagner, I. Hannibal, J. Lenberg, M. Krenn, K. M. Wigby, J. R. Friedman, M. Iascone, A. Cereda, T. Miao, E. LeGuern, E. Argilli, E. Sherr, O. Caluseriu, T. Tidwell, P. Bayrak-Toydemir, C. Hagedorn, M. Brugger, K. Vill, F. D. Morneau-Jacob, W. Chung, K. N. Weaver, J. W. Owens, A. Husami, B. P. Chaudhari, B. S. Stone, K. Burns, R. Li, I. M. de Lange, M. Biehler, E. Ginglinger, B. Gerard, R. W. Stottmann, and A. Trimouille. "Arf1-Related Disorder: Phenotypic and Molecular Spectrum." J Med Genet 60, no. 10 (Oct 2023): 999-1005. https://dx.doi.org/10.1136/jmg-2022-108803.
- Dzinovic, I., E. Graf, M. Brugger, R. Berutti, I. Prihodova, A. Blaschek, J. Winkelmann, R. Jech, K. Vill, and M. Zech. "Challenges in Establishing the Diagnosis of Prrt2-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch." Mov Disord Clin Pract 10, no. 7 (Jul 2023): 1159-61. https://dx.doi.org/10.1002/mdc3.13793.
- Engel, C., S. Valence, G. Delplancq, R. Maroofian, A. Accogli, E. Agolini, F. S. Alkuraya, V. Baglioni, I. Bagnasco, M. Becmeur-Lefebvre, E. Bertini, I. Borggraefe, E. Brischoux-Boucher, A. L. Bruel, A. Brusco, D. K. Bubshait, C. Cabrol, M. R. Cilio, M. C. Cornet, C. Coubes, O. Danhaive, V. Delague, A. S. Denomme-Pichon, M. C. Di Giacomo, M. Doco-Fenzy, H. Engels, K. Cremer, M. Gerard, J. G. Gleeson, D. Heron, J. Goffeney, A. Guimier, F. L. Harms, H. Houlden, M. Iacomino, R. Kaiyrzhanov, B. Kamien, E. G. Karimiani, D. Kraus, P. Kuentz, K. Kutsche, D. Lederer, L. Massingham, C. Mignot, D. Morris-Rosendahl, L. Nagarajan, S. Odent, C. Ormieres, J. N. Partlow, L. Pasquier, L. Penney, C. Philippe, G. Piccolo, C. Poulton, A. Putoux, M. Rio, C. Rougeot, V. Salpietro, I. Scheffer, A. Schneider, S. Srivastava, R. Straussberg, P. Striano, E. M. Valente, P. Venot, L. Villard, A. Vitobello, J. Wagner, M. Wagner, M. S. Zaki, F. Zara, G. Lesca, V. R. Yassaee, M. Miryounesi, F. Hashemi-Gorji, M. Beiraghi, F. Ashrafzadeh, H. Galehdari, C. Walsh, A. Novelli, M. Tacke, D. Sadykova, Y. Maidyrov, K. Koneev, C. Shashkin, V. Capra, M. Zamani, L. Van Maldergem, L. Burglen, and J. Piard. "Brat1-Related Disorders: Phenotypic Spectrum and Phenotype-Genotype Correlations from 97 Patients." Eur J Hum Genet 31, no. 9 (Sep 2023): 1023-31. https://dx.doi.org/10.1038/s41431-023-01410-z.
- Esopenko, C., N. Sollmann, E. M. Bonke, T. L. T. Wiegand, F. Heinen, N. L. de Souza, K. M. Breedlove, M. E. Shenton, A. P. Lin, and I. K. Koerte. "Current and Emerging Techniques in Neuroimaging of Sport-Related Concussion." J Clin Neurophysiol 40, no. 5 (Jul 1 2023): 398-407. https://dx.doi.org/10.1097/WNP.0000000000000864.
- Gippert, S., M. Wagner, T. Brunet, R. Berruti, M. Brugger, E. M. C. Schwaibold, T. B. Haack, G. F. Hoffmann, M. Bettendorf, and D. Choukair. "Exome Sequencing (Es) of a Pediatric Cohort with Chronic Endocrine Diseases: A Single-Center Study (within the Framework of the Translate-Namse Project)." Endocrine (Nov 8 2023). https://dx.doi.org/10.1007/s12020-023-03581-7.
- Grosse, L., V. Lieftuchter, Y. Vollmuth, F. Hoffmann, M. Olivieri, K. Reiter, M. Tacke, F. Heinen, I. Borggraefe, A. Osterman, M. Forstner, J. Hubner, U. von Both, L. Birzele, M. Rohlfs, A. Schomburg, M. M. Bohmer, V. Ruf, D. Cadar, B. Muntau, K. Portner, and D. Tappe. "First Detected Geographical Cluster of Bodv-1 Encephalitis from Same Small Village in Two Children: Therapeutic Considerations and Epidemiological Implications." Infection 51, no. 5 (Oct 2023): 1383-98. https://dx.doi.org/10.1007/s15010-023-01998-w.
- Grosse, L., A. C. Meuche, B. Parzefall, C. Borner, J. F. Schnabel, M. A. Spah, P. Klug, N. Sollmann, L. Klich, M. Hosl, F. Heinen, S. Berweck, S. A. Schroder, and M. V. Bonfert. "Functional Repetitive Neuromuscular Magnetic Stimulation (Frnms) Targeting the Tibialis Anterior Muscle in Children with Upper Motor Neuron Syndrome: A Feasibility Study." Children (Basel) 10, no. 10 (Sep 22 2023). https://dx.doi.org/10.3390/children10101584.
- Grosse, L., J. F. Schnabel, C. Borner-Schroder, M. A. Spah, A. C. Meuche, N. Sollmann, U. Breuer, B. Warken, M. Hosl, F. Heinen, S. Berweck, S. A. Schroder, and M. V. Bonfert. "Safety and Feasibility of Functional Repetitive Neuromuscular Magnetic Stimulation of the Gluteal Muscles in Children and Adolescents with Bilateral Spastic Cerebral Palsy." Children (Basel) 10, no. 11 (Oct 31 2023). https://dx.doi.org/10.3390/children10111768.
- Grosse, L., M. A. Spah, C. Borner, J. F. Schnabel, A. C. Meuche, B. Parzefall, U. Breuer, B. Warken, A. Sitzberger, M. Hosl, F. Heinen, S. Berweck, S. A. Schroder, and M. V. Bonfert. "Addressing Gross Motor Function by Functional Repetitive Neuromuscular Magnetic Stimulation Targeting to the Gluteal Muscles in Children with Bilateral Spastic Cerebral Palsy: Benefits of Functional Repetitive Neuromuscular Magnetic Stimulation Targeting the Gluteal Muscles." Front Neurol 14 (2023): 1161532. https://dx.doi.org/10.3389/fneur.2023.1161532.
- 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 (Jan 2023): 88-96. https://dx.doi.org/10.1016/j.ejpn.2022.11.009.
- Johannsen, J., D. Weiss, J. Driemeyer, J. Olfe, F. Stute, F. Muller, M. Schutt, R. Trollmann, H. Kolbel, U. Schara-Schmidt, J. Kirschner, A. Pechmann, A. Blaschek, V. Horber, and J. Denecke. "High-Sensitive Cardiac Troponin I (Hs-Ctni) Concentrations in Newborns Diagnosed with Spinal Muscular Atrophy." Front Pediatr 11 (2023): 1259293. https://dx.doi.org/10.3389/fped.2023.1259293.
- Jost, W. H., T. Baumer, A. Bevot, U. Birkmann, C. Buhmann, M. Grosheva, O. Guntinas-Lichius, R. Laskawi, S. Paus, C. Pflug, A. S. Schroeder, B. Spittau, A. Steffen, B. Wilken, M. Winterholler, and S. Berweck. "Botulinum Neurotoxin Type a in the Interdisciplinary Treatment of Sialorrhea in Adults and Children-Update and Practice Recommendations." Front Neurol 14 (2023): 1275807. https://dx.doi.org/10.3389/fneur.2023.1275807.
- Kaupper, C. S., S. M. Blaauwendraad, C. A. M. Cecil, R. H. Mulder, R. Gaillard, R. Goncalves, I. Borggraefe, B. Koletzko, and V. W. V. Jaddoe. "Cord Blood Metabolite Profiles and Their Association with Autistic Traits in Childhood." Metabolites 13, no. 11 (Nov 9 2023). https://dx.doi.org/10.3390/metabo13111140.
- H. E. Klager, B. Nast-Kolb, L. Reuter, F. Hoffmann, S. Juranek, C. Bidlingmaier, N. Fabri, N. K. T. Schonberg, J. Wagner, F. Heinen, O. Muensterer, C. Zeller, A. S. Holler, A. Froba-Pohl, and M. V. Bonfert. "Trends in Pediatric Mild Traumatic Brain Injury During Covid-19-Related Lockdown-a Single-Center Study." Neuropediatrics 54, no. 6 (Dec 2023): 388-96. https://dx.doi.org/10.1055/a-2084-2674.
- Kuhne, F., L. L. Becker, T. Bast, A. Bertsche, I. Borggraefe, C. M. Bosselmann, J. Fahrbach, C. Hertzberg, N. A. Herz, M. Hirsch, M. Holtkamp, C. Janello, G. J. Kluger, G. Kurlemann, H. Lerche, K. L. Makridis, F. von Podewils, M. Pringsheim, S. Schubert-Bast, J. Schulz, A. Schulze-Bonhage, D. Steinbart, B. J. Steinhoff, A. Strzelczyk, S. Syrbe, H. De Vries, C. Wagner, J. Wagner, B. Wilken, C. Prager, K. A. Klotz, and A. M. Kaindl. "Real-World Data on Cannabidiol Treatment of Various Epilepsy Subtypes: A Retrospective, Multicenter Study." Epilepsia Open 8, no. 2 (Jun 2023): 360-70. https://dx.doi.org/10.1002/epi4.12699.
- 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. https://dx.doi.org/10.3171/2022.4.JNS212753.
- Lawlor, M. W., B. Schoser, M. Margeta, C. A. Sewry, K. A. Jones, P. B. Shieh, N. L. Kuntz, B. K. Smith, J. J. Dowling, W. Muller-Felber, C. G. Bonnemann, A. M. Seferian, A. Blaschek, S. Neuhaus, A. R. Foley, D. N. Saade, E. Tsuchiya, U. R. Qasim, M. Beatka, M. J. Prom, E. Ott, S. Danielson, P. Krakau, S. N. Kumar, H. Meng, M. Vanden Avond, C. Wells, H. Gordish-Dressman, A. H. Beggs, S. Christensen, E. Conner, E. S. James, J. Lee, C. Sadhu, W. Miller, B. Sepulveda, F. Varfaj, S. Prasad, and S. Rico. "Effects of Gene Replacement Therapy with Resamirigene Bilparvovec (At132) on Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Results from a Substudy of the Aspiro Open-Label Clinical Trial." EBioMedicine 99 (Dec 11 2023): 104894. https://dx.doi.org/10.1016/j.ebiom.2023.104894.
- 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 29, no. 6 (Dec 2023): 732-50. https://dx.doi.org/10.1177/10738584221088244.
- Lischka, A., K. Eggermann, C. J. Record, M. F. Dohrn, P. Lassuthova, F. Kraft, M. Begemann, D. Dey, T. Eggermann, D. Beijer, J. Soukalova, M. Laura, A. M. Rossor, R. Mazanec, J. Van Lent, P. J. Tomaselli, M. Ungelenk, K. Y. Debus, S. M. E. Feely, D. Glaser, S. Jagadeesh, M. Martin, G. M. Govindaraj, P. Singhi, R. Baineni, N. Biswal, M. Ibarra-Ramirez, M. Bonduelle, B. Gess, J. Romero Sanchez, R. Suthar, V. Udani, A. Nalini, G. Unnikrishnan, W. Junior Marques, S. Mercier, V. Procaccio, C. Bris, B. Suresh, V. Reddy, M. Skorupinska, N. Bonello-Palot, F. Mochel, G. Dahl, K. Sasidharan, F. M. Devassikutty, S. Nampoothiri, M. J. Rodovalho Doriqui, W. Muller-Felber, K. Vill, T. B. Haack, A. Dufke, M. Abele, R. Stucka, S. Siddiqi, N. Ullah, S. Spranger, D. Chiabrando, B. S. Bolgul, Y. Parman, P. Seeman, A. Lampert, J. B. Schulz, J. N. Wood, J. J. Cox, M. Auer-Grumbach, V. Timmerman, J. de Winter, A. C. Themistocleous, M. Shy, D. L. Bennett, J. Baets, C. A. Hubner, E. Leipold, S. Zuchner, M. Elbracht, A. Cakar, J. Senderek, T. Hornemann, C. G. Woods, M. M. Reilly, and I. Kurth. "Genetic Landscape of Congenital Insensitivity to Pain and Hereditary Sensory and Autonomic Neuropathies." Brain 146, no. 12 (Dec 1 2023): 4880-90. https://dx.doi.org/10.1093/brain/awad328.
- Makridis, K. L., K. A. Klotz, G. Ramantani, L. L. Becker, V. San Antonio-Arce, S. Syrbe, K. Wagner, M. J. Shah, U. W. Thomale, A. Tietze, C. E. Elger, I. Borggraefe, and A. M. Kaindl. "Epilepsy Surgery in Early Infancy: A Retrospective, Multicenter Study." Epilepsia Open 8, no. 3 (Sep 2023): 1182-89. https://dx.doi.org/10.1002/epi4.12791.
- Melder, A., E. Wittmann, L. Bulubas, B. Dornheim, K. Kerber, U. Vogelmann, M. Campana, J. Hubert, V. Schmidt, F. Heinen, F. Padberg, and M. N. Landgraf. "Transcranial Magnetic Stimulation as a Feasible, Non-Invasive, Neuromodulatory Intervention in Fetal Alcohol Spectrum Disorders. A Very First Proof of Concept." Eur J Paediatr Neurol 47 (Nov 2023): 131-42. https://dx.doi.org/10.1016/j.ejpn.2023.10.004.
- Muller-Felber, W., A. Blaschek, O. Schwartz, D. Glaser, U. Nennstiel, I. Brockow, B. Wirth, S. Burggraf, W. Roschinger, M. Becker, J. Durner, K. Eggermann, H. Kolbel, C. Muller, I. Hannibal, B. Olgemoller, U. Schara, A. von Moers, R. Trollmann, J. Johannssen, A. Ziegler, S. Cirak, A. Hahn, M. von der Hagen, C. Weiss, G. Schreiber, M. Flotats-Bastardas, H. Hartmann, S. Illsinger, A. Pechmann, V. Horber, J. Kirschner, C. Kohler, B. Winter, J. Friese, and K. Vill. "Newbornscreening Sma - from Pilot Project to Nationwide Screening in Germany." J Neuromuscul Dis 10, no. 1 (2023): 55-65. https://dx.doi.org/10.3233/JND-221577.
- Nissenkorn, A., G. Kluger, S. Schubert-Bast, A. Bayat, M. Bobylova, P. Bonanni, B. Ceulemans, A. Coppola, C. Di Bonaventura, M. Feucht, A. Fuchs, G. Groppel, G. Heimer, B. Herdt, S. Kulikova, K. Mukhin, S. Nicassio, A. Orsini, M. Panagiotou, M. Pringsheim, B. Puest, O. Pylaeva, G. Ramantani, M. Tsekoura, P. Ricciardelli, T. Lerman Sagie, B. Stark, P. Striano, A. van Baalen, M. De Wachter, E. Cerulli Irelli, C. Cuccurullo, C. von Stulpnagel, and A. Russo. "Perampanel as Precision Therapy in Rare Genetic Epilepsies." Epilepsia 64, no. 4 (Apr 2023): 866-74. https://dx.doi.org/10.1111/epi.17530.
- Patterson, V., F. Ullah, L. Bryant, J. N. Griffin, A. Sidhu, S. Saliganan, M. Blaile, M. S. Saenz, R. Smith, S. Ellingwood, D. K. Grange, X. Hu, M. Mireguli, Y. Luo, Y. Shen, M. Mulhern, E. Zackai, A. Ritter, K. Izumi, J. Hoefele, M. Wagner, K. M. Riedhammer, B. Seitz, N. H. Robin, D. Goodloe, C. Mignot, B. Keren, H. Cox, J. Jarvis, M. Hempel, C. F. Gibson, F. Tran Mau-Them, A. Vitobello, A. L. Bruel, A. Sorlin, S. Mehta, F. L. Raymond, K. Gilmore, B. C. Powell, K. Weck, C. Li, A. T. Vulto-van Silfhout, T. Giacomini, M. M. Mancardi, A. Accogli, V. Salpietro, F. Zara, N. L. Vora, E. E. Davis, R. Burdine, and E. Bhoj. "Abrogation of Map4k4 Protein Function Causes Congenital Anomalies in Humans and Zebrafish." Sci Adv 9, no. 17 (Apr 28 2023): eade0631. https://dx.doi.org/10.1126/sciadv.ade0631.
- Pechmann, A., M. Behrens, K. Dornbrack, A. Tassoni, S. Stein, S. Vogt, D. Zoller, G. Bernert, T. Hagenacker, U. Schara-Schmidt, I. Schwersenz, M. C. Walter, M. Baumann, M. Baumgartner, M. Deschauer, A. Eisenkolbl, M. Flotats-Bastardas, A. Hahn, V. Horber, R. A. Husain, S. Illsinger, J. Johannsen, C. Kohler, H. Kolbel, M. Muller, A. von Moers, K. Schlachter, G. Schreiber, O. Schwartz, M. Smitka, E. Steiner, E. Stogmann, R. Trollmann, K. Vill, C. Weiss, G. Wiegand, A. Ziegler, H. Lochmuller, J. Kirschner, and S. MArtCARE study group. "Effect of Nusinersen on Motor, Respiratory and Bulbar Function in Early-Onset Spinal Muscular Atrophy." Brain 146, no. 2 (Feb 13 2023): 668-77. https://dx.doi.org/10.1093/brain/awac252.
- Pechmann, A., M. Behrens, K. Dornbrack, A. Tassoni, F. Wenzel, S. Stein, S. Vogt, D. Zoller, G. Bernert, T. Hagenacker, U. Schara-Schmidt, M. C. Walter, M. Steinbach, A. Blaschek, M. Baumann, M. Baumgartner, B. Becker, M. Flotats-Bastardas, J. Friese, R. Gunther, A. Hahn, H. Kupper, J. Johannsen, C. Kamm, J. C. Koch, C. Kohler, H. Kolbel, K. Kolzter, A. von Moers, S. Naegel, C. Neuwirth, S. Petri, A. Rodiger, M. Schimmel, B. Schrank, G. Schreiber, M. Smitka, C. Stadler, E. Steiner, E. Stogmann, R. Trollmann, M. Turk, M. Weiler, C. Stoltenburg, E. Willichowsky, D. Zeller, A. Ziegler, H. Lochmuller, J. Kirschner, and S. MArtCARE study group. "Improvements in Walking Distance During Nusinersen Treatment - a Prospective 3-Year Smartcare Registry Study." J Neuromuscul Dis 10, no. 1 (2023): 29-40. https://dx.doi.org/10.3233/JND-221600.
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