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Page 1
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. J Neurol. 2024 Dec 16;272(1):63. doi: 10.1007/s00415-024-12744-z. J Neurol. 2024. PMID: 39680150 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.
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: gangfuss a. 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.
Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.
Distelmaier F, Sezer A, Helm C, Waldmüller S, Seibt A, Gangfuß A, Kölbel H, Schara-Schmidt U, Yuksel D, Talim B, Mayatepek E, Nikolin S, Weis J, Roos A, Haack TB. Distelmaier F, et al. Among authors: gangfuss a. Brain. 2024 Jul 5;147(7):e45-e49. doi: 10.1093/brain/awae099. Brain. 2024. PMID: 38637313 No abstract available.
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.
Pediatric Community-Acquired Brain Abscesses: A Single-center Retrospective Study.
Lu KH, Bruns N, Pentek C, Della Marina A, Gangfuß A, Kölbel H, Dogan B, Dziobaka J, Ahmadipour Y, Damman P, Felderhoff-Müser U, Dohna-Schwake C, Goretzki SC. Lu KH, et al. Among authors: gangfuss a. Pediatr Infect Dis J. 2024 Jun 1;43(6):e214-e217. doi: 10.1097/INF.0000000000004308. Epub 2024 Mar 5. Pediatr Infect Dis J. 2024. PMID: 38451881 Free PMC article.
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.
Gangfuß A, Rating P, Ferreira T, Hentschel A, Marina AD, Kölbel H, Sickmann A, Abicht A, Kraft F, Ruck T, Böhm J, Schänzer A, Schara-Schmidt U, Neuhann TM, Horvath R, Roos A. Gangfuß A, et al. J Neuromuscul Dis. 2024;11(2):485-491. doi: 10.3233/JND-230181. J Neuromuscul Dis. 2024. PMID: 38217609 Free PMC article.
39 results