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Page 1
[Adult Spinal Muscular Atrophy].
Walter MC, Hiebeler M. Walter MC, et al. Among authors: hiebeler m. Fortschr Neurol Psychiatr. 2022 Sep;90(9):421-430. doi: 10.1055/a-1801-3785. Epub 2022 Sep 14. Fortschr Neurol Psychiatr. 2022. PMID: 36103897 German.
Congenital myopathy and epidermolysis bullosa due to PLEC variant.
Walter MC, Reilich P, Krause S, Hiebeler M, Gehling S, Goebel HH, Schoser B, Abicht A. Walter MC, et al. Among authors: hiebeler m. Neuromuscul Disord. 2021 Nov;31(11):1212-1217. doi: 10.1016/j.nmd.2021.09.009. Epub 2021 Sep 30. Neuromuscul Disord. 2021. PMID: 34702657
Cutaneous T-cell lymphoma mimicking myopathy with lipoatrophy.
Hiebeler M, Reinholz M, Flaig M, Schmidt C, Schoser B, Herzinger T, Abicht A, Reilich P. Hiebeler M, et al. Neuromuscul Disord. 2022 Jan;32(1):65-70. doi: 10.1016/j.nmd.2021.11.009. Epub 2021 Nov 20. Neuromuscul Disord. 2022. PMID: 34937683
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
Erdmann H, Scharf F, Gehling S, Benet-Pagès A, Jakubiczka S, Becker K, Seipelt M, Kleefeld F, Knop KC, Prott EC, Hiebeler M, Montagnese F, Gläser D, Vorgerd M, Hagenacker T, Walter MC, Reilich P, Neuhann T, Zenker M, Holinski-Feder E, Schoser B, Abicht A. Erdmann H, et al. Among authors: hiebeler m. Brain. 2023 Apr 19;146(4):1388-1402. doi: 10.1093/brain/awac336. Brain. 2023. PMID: 36100962
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.
Weiß C, Becker LL, Friese J, Blaschek A, Hahn A, Illsinger S, Schwartz O, Bernert G, Hagen MV, Husain RA, Goldhahn K, Kirschner J, Pechmann A, Flotats-Bastardas M, Schreiber G, Schara U, Plecko B, Trollmann R, Horber V, Wilichowski E, Baumann M, Klein A, Eisenkölbl A, Köhler C, Stettner GM, Cirak S, Hasselmann O, Kaindl AM, Garbade SF, Johannsen J, Ziegler A; SMArtCARE and Swiss-Reg-NMD study group. Weiß C, et al. Lancet Reg Health Eur. 2024 Oct 7;47:101092. doi: 10.1016/j.lanepe.2024.101092. eCollection 2024 Dec. Lancet Reg Health Eur. 2024. PMID: 39434961 Free PMC article.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, Pechmann A; SMARTCARE study group. Schwartz O, et al. JAMA Pediatr. 2024 Jun 1;178(6):540-547. doi: 10.1001/jamapediatrics.2024.0492. JAMA Pediatr. 2024. PMID: 38587854 Clinical Trial.
16 results