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Orphanet Journal of Rare Diseases|January 22, 2015
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter studyEmmanuelle Salort-Campana, Karine Nguyen, Rafaelle Bernard, et al.
Science Translational Medicine|November 29, 2019
Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2AWilliam Lostal, Carinne Roudaut, Marine Faivre, et al.
Physiological Reports|March 22, 2017
Hip region muscular dystrophy and emergence of motor deficits in dysferlin-deficient Bla/J miceNadia Nagy, Randal J Nonneman, Telmo Llanga, et al.
Traffic (Copenhagen, Denmark)|November 30, 2006
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defectJyoti K Jaiswal, Gareth Marlow, Gillian Summerill, et al.
Neurology. Genetics|December 22, 2017
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiencyRabah Ben Yaou, Aurélie Hubert, Isabelle Nelson, et al.
JCI Insight|March 23, 2026
DAB2 in LGMD R2: a molecular link between disease progression and lipid dysregulationCeline Bruge, Nathalie Bourg, Emilie Pellier, et al.
Scientific Reports|June 6, 2020
miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophyMathilde Sanson, Ai Vu Hong, Emmanuelle Massourides, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 3, 2023
Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscleAdrien Morin, Amalia Stantzou, Olga N Petrova, et al.
Frontiers in Pharmacology|May 16, 2022
Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat CombinationLucile Hoch, Nathalie Bourg, Fanny Degrugillier, et al.
Annals of Neurology|January 8, 2014
Atypical phenotypes in titinopathies explained by second titin mutationsAnni Evilä, Anna Vihola, Jaakko Sarparanta, et al.
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