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Diversity of Dystrophin Gene Mutations and Disease Progression in a Contemporary Cohort of Duchenne Muscular Dystrophy. Pediatric cardiology 2022 1 43 (4): 855-867. Gambetta Katheryn E, McCulloch Michael A, Lal Ashwin K, Knecht Kenneth, Butts Ryan J, Villa Chet R, Johnson Jonathan N, Conway Jennifer, Bock Matthew J, Schumacher Kurt R, Law Sabrina P, Friedland-Little Joshua M, Deshpande Shriprasad R, West Shawn C, Lytrivi Irene D, Wittlieb-Weber Carol |
Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial. Journal of neuromuscular diseases 2021 Jun . McDonald Craig M, Shieh Perry B, Abdel-Hamid Hoda Z, Connolly Anne M, Ciafaloni Emma, Wagner Kathryn R, Goemans Nathalie, Mercuri Eugenio, Khan Navid, Koenig Erica, Malhotra Jyoti, Zhang Wenfei, Han Baoguang, Mendell Jerry R, |
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy. European journal of human genetics : EJHG 2020 Jan . Spitali Pietro, Zaharieva Irina, Bohringer Stefan, Hiller Monika, Chaouch Amina, Roos Andreas, Scotton Chiara, Claustres Mireille, Bello Luca, McDonald Craig M, Hoffman Eric P, , Koeks Zaida, Eka Suchiman H, Cirak Sebahattin, Scoto Mariacristina, Reza Mojgan, 't Hoen Peter A C, Niks Erik H, Tuffery-Giraud Sylvie, Lochmüller Hanns, Ferlini Alessandra, Muntoni Francesco, Aartsma-Rus Annemie |
Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.
![]() Annals of neurology 2018 Jul . Weiss Robert B, Vieland Veronica J, Dunn Diane M, Kaminoh Yuuki, Flanigan Kevin M, |
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. Neurology 2011 Jan 76 (3): 219-26. Pegoraro E, Hoffman E P, Piva L, Gavassini B F, Cagnin S, Ermani M, Bello L, Soraru G, Pacchioni B, Bonifati M D, Lanfranchi G, Angelini C, Kesari A, Lee I, Gordish-Dressman H, Devaney J M, McDonald C M, |
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