Bernard Brais

Overview

Best Publications

• Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

  Brais B;Bouchard Jp;Xie Yg;Rochefort Dl

  947
  Citations

• A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura.

  Ronald G Lafrenière;M Zameel Cader;M Zameel Cader;Jean-François Poulin;Isabelle Andres-Enguix

  399
  Citations

• Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

  S L Sawyer;T Hartley;D A Dyment;C L Beaulieu

  398
  Citations

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

  Angelo Calado;Fernando M.S. Tomé;Bernard Brais;G.A. Rouleau

  330
  Citations

• 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;Khalil Saleki

  324
  Citations

• Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.

  Geneviève Bernard;Geneviève Bernard;Eliane Chouery;Maria Lisa Putorti;Martine Tétreault

  260
  Citations

• Oculopharyngeal muscular dystrophy.

  Bernard Brais;Guy A. Rouleau;Jean-Pierre Bouchard;M. Fardeau

  241
  Citations

• Population history and its impact on medical genetics in Quebec.

  Laberge Am;Michaud J;Richter A;Lemyre E

  230
  Citations

• Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

  Martine Girard;Roxanne Larivière;David A. Parfitt;Emily C. Deane

  208
  Citations

• KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

  Jean-Baptiste Rivière;Siriram Ramalingam;Valérie Lavastre;Masoud Shekarabi

  208
  Citations

• Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

  Vafa Bayat;Isabelle Thiffault;Isabelle Thiffault;Manish Jaiswal;Martine Tétreault

  200
  Citations

• Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

  Nicole I. Wolf;Adeline Vanderver;Rosalina M.L. van Spaendonk;Raphael Schiffmann

  193
  Citations

• The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2−q13

  Bernard Brais;Ya-Gang Xie;Marc Sanson;Kenneth Morgan

  190
  Citations

• Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

  Isabelle Thiffault;Isabelle Thiffault;Isabelle Thiffault;Nicole I. Wolf;Diane Forget;Kether Guerrero

  185
  Citations

• Vocal Cord and Pharyngeal Weakness with Autosomal Dominant Distal Myopathy: Clinical Description and Gene Localization to 5q31

  Howard Feit;Alice Silbergleit;Lori B. Schneider;Jorge A. Gutierrez

  177
  Citations

• Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.

  Ronald G. Lafrenière;Marcia L.E. MacDonald;Marie-Pierre Dubé;Julie MacFarlane

  171
  Citations

• Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy

  Aida Abu-Baker;Christiane Messaed;Janet Laganiere;Claudia Gaspar

  164
  Citations

• Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death

  Xueping Fan;Patrick Dion;Janet Laganiere;Bernard Brais

  164
  Citations

• Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

  Martine Tétreault;Karine Choquet;Karine Choquet;Simona Orcesi;Davide Tonduti

  162
  Citations

• Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains

  Hugo Lavoie;François Debeane;Quoc-Dien Trinh;Jean-François Turcotte

  158
  Citations