Brais, Bernard

Top Publications

Top Publications Authored or Co-Authored by "Brais, Bernard"

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

  Nature Genetics, Volume 18, No. 2, Year 1998, Citations 654
• Mutations of POLR3A encoding a catalytic subunit of RNA polymerase pol III cause a recessive hypomyelinating leukodystrophy

  American Journal of Human Genetics, Volume 89, No. 3, Year 2011, Citations 219
• Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

  PLoS Biology, Volume 10, No. 3, Article e1001288, Year 2012, Citations 158
• The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2-q13

  Human Molecular Genetics, Volume 4, No. 3, Year 1995, Citations 134
• Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

  Annals of Neurology, Volume 57, No. 3, Year 2005, Citations 97