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3,791 results

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Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study.
Günther R, Wurster CD, Brakemeier S, Osmanovic A, Schreiber-Katz O, Petri S, Uzelac Z, Hiebeler M, Thiele S, Walter MC, Weiler M, Kessler T, Freigang M, Lapp HS, Cordts I, Lingor P, Deschauer M, Hahn A, Martakis K, Steinbach R, Ilse B, Rödiger A, Bellut J, Nentwich J, Zeller D, Muhandes MT, Baum T, Christoph Koch J, Schrank B, Fischer S, Hermann A, Kamm C, Naegel S, Mensch A, Weber M, Neuwirth C, Lehmann HC, Wunderlich G, Stadler C, Tomforde M, George A, Groß M, Pechmann A, Kirschner J, Türk M, Schimmel M, Bernert G, Martin P, Rauscher C, Meyer Zu Hörste G, Baum P, Löscher W, Flotats-Bastardas M, Köhler C, Probst-Schendzielorz K, Goldbach S, Schara-Schmidt U, Müller-Felber W, Lochmüller H, von Velsen O; SMArtCARE Study Group; Kleinschnitz C, Ludolph AC, Hagenacker T. Günther R, et al. Among authors: george a. Lancet Reg Health Eur. 2024 Feb 6;39:100862. doi: 10.1016/j.lanepe.2024.100862. eCollection 2024 Apr. Lancet Reg Health Eur. 2024. PMID: 38361750 Free PMC article.
Symptomatic pharmacotherapy in ALS: data analysis from a platform-based medication management programme.
Meyer T, Kettemann D, Maier A, Grehl T, Weyen U, Grosskreutz J, Steinbach R, Norden J, George A, Hermann A, Guenther R, Petri S, Schreiber-Katz O, Dorst J, Ludolph AC, Walter B, Münch C, Spittel S. Meyer T, et al. Among authors: george a. J Neurol Neurosurg Psychiatry. 2020 Jul;91(7):783-785. doi: 10.1136/jnnp-2020-322938. Epub 2020 Apr 21. J Neurol Neurosurg Psychiatry. 2020. PMID: 32317400 Free PMC article. No abstract available.
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Bertsche A, Vill K, Baumann M, Baumgartner M, Cordts I, Eisenkölbl A, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Horber V, Husain RA, Illsinger S, Jahnel J, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schwerin-Nagel A, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Trollmann R, Weiler M, Weiß C, Wiegand G, Wilichowski E, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Pechmann A, et al. Orphanet J Rare Dis. 2022 Oct 23;17(1):384. doi: 10.1186/s13023-022-02547-8. Orphanet J Rare Dis. 2022. PMID: 36274155 Free PMC article.
Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Steinbach M, Blaschek A, Baumann M, Baumgartner M, Becker B, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Küpper H, Johannsen J, Kamm C, Koch JC, Köhler C, Kölbel H, Kolzter K, von Moers A, Naegel S, Neuwirth C, Petri S, Rödiger A, Schimmel M, Schrank B, Schreiber G, Smitka M, Stadler C, Steiner E, Stögmann E, Trollmann R, Türk M, Weiler M, Stoltenburg C, Willichowsky E, Zeller D, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE Study Group. Pechmann A, et al. J Neuromuscul Dis. 2023;10(1):29-40. doi: 10.3233/JND-221600. J Neuromuscul Dis. 2023. PMID: 36565133 Free PMC article.
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 Apr 8:e240492. doi: 10.1001/jamapediatrics.2024.0492. Online ahead of print. JAMA Pediatr. 2024. PMID: 38587854
Molecular and cellular context influences SCN8A variant function.
Vanoye CG, Abramova TV, Dekeyser JM, Ghabra NF, Oudin MJ, Burge CB, Helbig I, Thompson CH, George AL Jr. Vanoye CG, et al. Among authors: george al jr. JCI Insight. 2024 May 21:e177530. doi: 10.1172/jci.insight.177530. Online ahead of print. JCI Insight. 2024. PMID: 38771640
Susceptibility to innate immune activation in genetically-mediated myocarditis.
Selgrade DF, Fullenkamp DE, Chychula IA, Li B, Dellefave-Castillo L, Dubash AD, Ohiri J, Monroe TO, Blancard M, Tomar G, Holgren C, Burridge PW, George AL Jr, Demonbreun AR, Puckelwartz M, George SA, Efimov IR, Green KJ, McNally EM. Selgrade DF, et al. Among authors: george al jr. J Clin Invest. 2024 May 16:e180254. doi: 10.1172/JCI180254. Online ahead of print. J Clin Invest. 2024. PMID: 38768074 Free article.
Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias.
Ohiri JC, Dellefave-Castillo L, Tomar G, Wilsbacher L, Choudhury L, Barefield DY, Fullenkamp D, Gacita AM, Monroe TO, Pesce L, Blancard M, Vaught L, George AL Jr, Demonbreun AR, Puckelwartz MJ, McNally EM. Ohiri JC, et al. Among authors: george al jr. J Am Heart Assoc. 2024 May 21;13(10):e030467. doi: 10.1161/JAHA.123.030467. Epub 2024 May 18. J Am Heart Assoc. 2024. PMID: 38761081 Free article.
3,791 results