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Plos One|August 23, 2011
Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathyMathieu Rederstorff, Perrine Castets, Sandrine Arbogast, et al.
Journal of Neuromuscular Diseases|November 19, 2016
Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related DiseasesIsabelle Nelson, Tanya Stojkovic, Valérie Allamand, et al.
Human Molecular Genetics|December 7, 2010
Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiencyPerrine Castets, Anne T Bertrand, Maud Beuvin, et al.
The Journal of Gene Medicine|December 13, 2007
Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubesValérie Allamand, Laure Bidou, Masayuki Arakawa, et al.
Journal of Neuromuscular Diseases|November 14, 2022
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMDTanya Stojkovic, Marion Masingue, Corinne Métay, et al.
Neuromuscular Disorders : NMD|September 18, 2012
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutationsMohamed Jarraya, Susana Quijano-Roy, Nicole Monnier, et al.
EMBO Reports|June 19, 2026
Collagen VI is a fibrosis-associated signal disrupting muscle regeneration across distinct human myopathiesLaura Muraine, Mona Bensalah, Stephen Gargan, et al.
Neuromuscular Disorders : NMD|June 18, 2013
Compound heterozygous mutations of the TNXB gene cause primary myopathyIsabelle Pénisson-Besnier, Valérie Allamand, Philippe Beurrier, et al.
Journal of Neuromuscular Diseases|November 18, 2016
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the SpectrumSimao Cruz, Sebastian Figueroa-Bonaparte, Eduard Gallardo, et al.
Disease Models & Mechanisms|November 25, 2025
Generation and characterization of Col6a1 knock-in mice: A promising pre-clinical model for collagen VI-Related dystrophiesArístides López-Márquez, Carmen Badosa, Lluis Enjuanes-Ruiz, et al.
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