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[Newborn screening program for spinal muscular atrophy].
Kölbel H, Vill K, Schwartz O, Blaschek A, Nennstiel U, Schara-Schmidt U, Hoffmann GF, Gläser D, Röschinger W, Bernert G, Klein A, Müller-Felber W. Kölbel H, et al. Nervenarzt. 2022 Feb;93(2):135-141. doi: 10.1007/s00115-021-01204-y. Epub 2021 Oct 15. Nervenarzt. 2022. PMID: 34652481 Review. German.
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1).
Töpf A, Pyle A, Griffin H, Matalonga L, Schon K; Solve-RD SNV-indel working group; Solve-RD DITF-euroNMD; Sickmann A, Schara-Schmidt U, Hentschel A, Chinnery PF, Kölbel H, Roos A, Horvath R. Töpf A, et al. Eur J Hum Genet. 2021 Sep;29(9):1348-1353. doi: 10.1038/s41431-021-00851-8. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075209 Free PMC article.
[Essen transition model for neuromuscular diseases].
Fleischer M, Coskun B, Stolte B, Della-Marina A, Kölbel H, Lax H, Nonnemacher M, Kleinschnitz C, Schara-Schmidt U, Hagenacker T. Fleischer M, et al. Nervenarzt. 2023 Feb;94(2):129-135. doi: 10.1007/s00115-022-01274-6. Epub 2022 Mar 7. Nervenarzt. 2023. PMID: 35254466 Free PMC article. German.
[Gene-based treatment in spinal muscular atrophy].
Hagenacker T, Schara-Schmidt U, Kleinschnitz C. Hagenacker T, et al. Nervenarzt. 2022 Jun;93(6):549-556. doi: 10.1007/s00115-022-01295-1. Epub 2022 May 6. Nervenarzt. 2022. PMID: 35522309 Review. German.
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Schwersenz I, Walter MC, Baumann M, Baumgartner M, Deschauer M, Eisenkölbl A, Flotats-Bastardas M, Hahn A, Horber V, Husain RA, Illsinger S, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stögmann E, Trollmann R, Vill K, Weiß C, Wiegand G, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Pechmann A, et al. Brain. 2023 Feb 13;146(2):668-677. doi: 10.1093/brain/awac252. Brain. 2023. PMID: 35857854
70 results