Maud Beuvin

Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

Lucie Gueneau, A. Bertrand, Jean-Philippe Jaı̈s et al. · The American Journal of Human Genetics · 2009 · 236 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

Oxidative stress in <i>SEPN1</i>‐related myopathy: From pathophysiology to treatment

Sandrine Arbogast, Maud Beuvin, B. Fraysse et al. · Annals of Neurology · 2009 · 149 citations · Full text

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Vanessa Schartner, Norma B. Romero, Sandra Donkervoort et al. · Acta Neuropathologica · 2016 · 132 citations · Full text

Congenital Myopathy, Mendelian Disorder, Degenerative Disease +1

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice

Anne‐Cécile Durieux, Alban Vignaud, Bernard Prudhon et al. · Human Molecular Genetics · 2010 · 124 citations · Full text

Forelimb Treatment in a Large Cohort of Dystrophic Dogs Supports Delivery of a Recombinant AAV for Exon Skipping in Duchenne Patients

Caroline Le Guiner, Marie Montus, Laurent Servais et al. · Molecular Therapy · 2014 · 114 citations · Full text