Jorge A. Bevilacqua

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

Marc Bitoun, Jorge A. Bevilacqua, Bernard Prudhon et al. · Annals of Neurology · 2007 · 149 citations · Full text

Medicine, Neurology, Pediatrics +8

Analysis of the<i>DYSF</i>mutational spectrum in a large cohort of patients

Martin Krahn, Christophe Béroud, Véronique Labelle et al. · Human Mutation · 2008 · 118 citations

Life Sciences, Genetics, Molecular Genetics +9

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

Jorge A. Bevilacqua, Nicole Monnier, Marc Bitoun et al. · Neuropathology and Applied Neurobiology · 2010 · 116 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

Jorge A. Bevilacqua, Marc Bitoun, Valérie Biancalana et al. · Acta Neuropathologica · 2008 · 116 citations · Full text

Medicine, Neurology, Pathology +12

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis

Marc Bitoun, Anne‐Cécile Durieux, Bernard Prudhon et al. · Human Mutation · 2009 · 81 citations · Full text

Life Sciences, Cell Biology, Neurology +17