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Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort.
Gangfuß A, Goj G, Polz S, Della Marina A, Hentschel A, Ahlbory K, Deba T, Kotzaeridou U, Schuler E, Pechmann A, Diebold U, Kurlemann G, Heinzkyll L, Schmitt D, Rostasy K, Ruck T, Böhm J, Roos A, Schara-Schmidt U. Gangfuß A, et al. Among authors: schara schmidt u. J Neurol. 2024 Dec 16;272(1):63. doi: 10.1007/s00415-024-12744-z. J Neurol. 2024. PMID: 39680150 Free PMC article.
Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpoint.
Servais L, Strijbos P, Poleur M, Mirea A, Butoianu N, Sansone VA, Vuillerot C, Schara-Schmidt U, Scoto M, Seferian AM, Previtali SC, Tulinius M, Nascimento A, Furlong P, Singh T, Dreghici RD, Goemans N, Mercuri E, Straub V, Ormazabal MG, Braid J, Muntoni F, Tricot A, Annoussamy M, Eggenspieler D. Servais L, et al. Among authors: schara schmidt u. Sci Rep. 2024 Nov 29;14(1):29681. doi: 10.1038/s41598-024-80177-9. Sci Rep. 2024. PMID: 39613806 Free PMC article.
Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using 1H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids.
Saffari A, Niesert M, Cannet C, Blaschek A, Hahn A, Johannsen J, Kockaya M, Kölbel H, Hoffmann GF, Claus P, Kölker S, Müller-Felber W, Roos A, Schara-Schmidt U, Trefz FK, Vill K, Wick W, Weiler M, Okun JG, Ziegler A. Saffari A, et al. Among authors: schara schmidt u. Int J Mol Sci. 2024 Nov 12;25(22):12123. doi: 10.3390/ijms252212123. Int J Mol Sci. 2024. PMID: 39596191 Free PMC article.
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.
AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial.
Mendell JR, Muntoni F, McDonald CM, Mercuri EM, Ciafaloni E, Komaki H, Leon-Astudillo C, Nascimento A, Proud C, Schara-Schmidt U, Veerapandiyan A, Zaidman CM, Guridi M, Murphy AP, Reid C, Wandel C, Asher DR, Darton E, Mason S, Potter RA, Singh T, Zhang W, Fontoura P, Elkins JS, Rodino-Klapac LR. Mendell JR, et al. Among authors: schara schmidt u. Nat Med. 2024 Oct 9. doi: 10.1038/s41591-024-03304-z. Online ahead of print. Nat Med. 2024. PMID: 39385046
Lipid and protein imbalances in muscle of a FAR1-patient with a heterozygous de novo variant.
Della Marina A, Hentschel A, Stenzel M, Schara-Schmidt U, Osmanovic A, Ruck T, Grüneboom A, Röbisch L, Beygo J, Kölbel H, Gangfuss A, Kaiser FJ, Schänzer A, Kale D, Roos A. Della Marina A, et al. Among authors: schara schmidt u. J Neuropathol Exp Neurol. 2024 Nov 1;83(11):979-983. doi: 10.1093/jnen/nlae071. J Neuropathol Exp Neurol. 2024. PMID: 39074165 No abstract available.
Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome.
Chiu C, Küchler A, Depienne C, Preuße C, Marina AD, Reis A, Kaiser FJ, Nolte K, Hentschel A, Schara-Schmidt U, Kölbel H, Roos A. Chiu C, et al. Among authors: schara schmidt u. Skelet Muscle. 2024 Jul 18;14(1):15. doi: 10.1186/s13395-024-00348-0. Skelet Muscle. 2024. PMID: 39026379 Free PMC article.
80 results