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Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
JAMA Pediatr. 2024 Jun 1;178(6):540-547. doi: 10.1001/jamapediatrics.2024.0492.
JAMA Pediatr. 2024.
PMID: 38587854
Clinical Trial.
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: tomforde m.
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.
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Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene.
Tomforde M, Steinbach M, Haack TB, Kuhlenbäumer G.
Tomforde M, et al.
Neurogenetics. 2023 Oct;24(4):273-278. doi: 10.1007/s10048-023-00728-6. Epub 2023 Aug 17.
Neurogenetics. 2023.
PMID: 37589857
Free PMC article.
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Aortic compression of the esophagus: A case report and literature review.
Tomforde M, Kupsch H, Christe A, Sturzenegger M, Essig M.
Tomforde M, et al.
Acta Radiol Open. 2021 Sep 28;10(9):20584601211043256. doi: 10.1177/20584601211043256. eCollection 2021 Sep.
Acta Radiol Open. 2021.
PMID: 34603746
Free PMC article.
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