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14 results

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Page 1
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 Free PMC article. Clinical Trial.
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.
Different pain phenotypes are associated with anti-Caspr2 autoantibodies.
Greguletz P, Plötz M, Baade-Büttner C, Bien CG, Eisenhut K, Geis C, Handreka R, Klausewitz J, Körtvelyessy P, Kovac S, Kraft A, Lewerenz J, Malter M, Nagel M, von Podewils F, Prüß H, Rada A, Rau J, Rauer S, Rößling R, Seifert-Held T, Siebenbrodt K, Sühs KW, Tauber SC, Thaler F, Wagner J, Wickel J, Leypoldt F, Rittner HL, Sommer C, Villmann C, Doppler K; GENERATE study group. Greguletz P, et al. J Neurol. 2024 May;271(5):2736-2744. doi: 10.1007/s00415-024-12224-4. Epub 2024 Feb 22. J Neurol. 2024. PMID: 38386048 Free PMC article.
Early Treatment With Intravenous Immunoglobulins and Outcomes of Patients With Anti-IgLON5 Disease.
Grüter T, Gaig C, Crijnen YS, Titulaer MJ, Sabater L, Heidbreder A, Dargvainiene J, Tietz A, Kovac S, Dik A, Erro ME, Lewerenz J, Kraft A, Seifert F, Höftberger R, Thaler FS, de Azevedo L, Wickel J, de Vries JM, Boon AJW, van Steenhoven RW, Gold R, Wandinger KP, Kuhlenbäumer G, Dalmau JO, Leypoldt F, Graus F, Ayzenberg I; Anti-IgLON5 Disease Study Group. Grüter T, et al. JAMA Neurol. 2025 Aug 4:e252574. doi: 10.1001/jamaneurol.2025.2574. Online ahead of print. JAMA Neurol. 2025. PMID: 40758377
Noninvasive Neuromonitoring in Children.
Lieftuechter V, Bruns N, Deba T, Tacke M. Lieftuechter V, et al. Among authors: deba t. Neuropediatrics. 2025 Aug 20. doi: 10.1055/a-2679-1709. Online ahead of print. Neuropediatrics. 2025. PMID: 40834865
Genetic Heterogeneity in Algerian Human Populations.
Bekada A, Arauna LR, Deba T, Calafell F, Benhamamouch S, Comas D. Bekada A, et al. Among authors: deba t. PLoS One. 2015 Sep 24;10(9):e0138453. doi: 10.1371/journal.pone.0138453. eCollection 2015. PLoS One. 2015. PMID: 26402429 Free PMC article.
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
14 results