Bernard Brais

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

Bernard Brais, Jean‐Pierre Bouchard, Ya‐Gang Xie et al. · Nature Genetics · 1998 · 796 citations · Full text

Systems Biology, Genetic Disorder, Short Gcg Expansions +7

Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies

Véronique Bolduc, Gareth Marlow, Kym M. Boycott et al. · The American Journal of Human Genetics · 2010 · 280 citations · Full text

Channelopathies, Molecular Physiology, Cause Proximal Lgmd2l +8

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Geneviève Bernard, Éliane Chouery, Maria Lisa Putorti et al. · The American Journal of Human Genetics · 2011 · 267 citations · Full text

Genetics, Recessive Hypomyelinating Leukodystrophy, Molecular Biology +5

Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA

Ângelo Calado, Fernando M.S. Tomé, Bernard Brais et al. · Human Molecular Genetics · 2000 · 248 citations · Full text

Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

David Pellerin, Matt C. Danzi, Carlo Wilke et al. · New England Journal of Medicine · 2022 · 222 citations · Full text