Bernard Brais, MDCM, PhD
Bernard Brais, MDCM, PhD, is Director of the Rare Neurological Diseases Group. He completed his MDCM, neurology residency and PhD at 成人VR视频. He is also trained as a historian of neurosciences and genetics. His听research largely focuses on the genetic basis of neurogenetic disorders with founder effects in Quebec, with an increasing focus on disorders with ataxic manifestations such as Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS). Since 2007, he has headed a team of researchers on ARSACS. Dr. Brais has played important roles in identifying causal genes for Oculopharyngeal muscular dystrophy (OPMD), Hereditary Sensory and Autonomic Neuropathy type II (HSANII), Limb Girdle Muscular Dystrophy with Quadriceps atrophy (LGMD2L), Pol III-related leukodystrophies, and ZAK congenital myopathy.
C么t茅 C, Gagnon C, Youssof S, Kurtz N, Brais B. Muscle Nerve. 2018 Dec 2.
Gagnon C, Lessard I, Lavoie C, C么t茅 I, St-Gelais R, Mathieu J, Brais B. Neurology. 2018 Oct 2;91(14).
Choquet K, Yang S, Moir RD, Forget D, Lariviere R**, Bouchard A, Poitras C, Sgarioto N, Dicaire MJ, Noohi F, Kennedy TE, Rocheford J, Bernard G, Teichmann M, Coulombe B, Willis IM, Kleinmann CL, Brais B. Leukodystrophy mutation. Mol Brain. 2017 Apr 13;10(1):13.
Choquet K, T茅treault M, Yang S, La Piana R, Dicaire MJ, Vanstone MR, Mathieu J, Bouchard JP, Rioux MF, Rouleau GA, Care4Rare Canada Consortium, Boycott KM, Majewski J, Brais B. SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. Eur J Hum Genet. 2016 Jul;24(7):1016-21.
T茅treault M, Gonzalez M, Dicaire MJ, Allard P, Gehring K, Leblanc D, Leclerc N, Schondorf R, Mathieu J, Zuchner S, Brais B. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. Brain. 2015 Jun;138:1477-83.
Lariviere R, Gaudet R, Gentil BJ, Girard M, Conte TC, Minotti S, Leclerc-Desaulniers K, Gehring K, McKinney A, Shoubridge EA, McPherson P, Durham H, Brais B. Sacs knockout mice present pathophysiological defects underlyning autosomal recessive spastic ataxia of Charlevoix-Saguenay. Human Molecular Genetics. 2015 Feb 1;24(3):727-39.
