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Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.
Weiß C, Ziegler A, Becker LL, Johannsen J, Brennenstuhl H, Schreiber G, Flotats-Bastardas M, Stoltenburg C, Hartmann H, Illsinger S, Denecke J, Pechmann A, Müller-Felber W, Vill K, Blaschek A, Smitka M, van der Stam L, Weiss K, Winter B, Goldhahn K, Plecko B, Horber V, Bernert G, Husain RA, Rauscher C, Trollmann R, Garbade SF, Hahn A, von der Hagen M, Kaindl AM. Weiß C, et al. Among authors: blaschek a. Lancet Child Adolesc Health. 2022 Jan;6(1):17-27. doi: 10.1016/S2352-4642(21)00287-X. Epub 2021 Oct 29. Lancet Child Adolesc Health. 2022. PMID: 34756190
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.
Gallenmüller C, Müller-Felber W, Dusl M, Stucka R, Guergueltcheva V, Blaschek A, von der Hagen M, Huebner A, Müller JS, Lochmüller H, Abicht A. Gallenmüller C, et al. Among authors: blaschek a. Neuromuscul Disord. 2014 Jan;24(1):31-5. doi: 10.1016/j.nmd.2013.08.002. Epub 2013 Aug 7. Neuromuscul Disord. 2014. PMID: 24183479 Free PMC article.
Oligoclonal bands predict multiple sclerosis in children with optic neuritis.
Heussinger N, Kontopantelis E, Gburek-Augustat J, Jenke A, Vollrath G, Korinthenberg R, Hofstetter P, Meyer S, Brecht I, Kornek B, Herkenrath P, Schimmel M, Wenner K, Häusler M, Lutz S, Karenfort M, Blaschek A, Smitka M, Karch S, Piepkorn M, Rostasy K, Lücke T, Weber P, Trollmann R, Klepper J, Häussler M, Hofmann R, Weissert R, Merkenschlager A, Buttmann M; for GRACE-MS (German-speaking Research Alliance for ChildrEn with Multiple Sclerosis). Heussinger N, et al. Among authors: blaschek a. Ann Neurol. 2015 Jun;77(6):1076-82. doi: 10.1002/ana.24409. Epub 2015 May 11. Ann Neurol. 2015. PMID: 25820181
109 results