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Diversity of ARSACS mutations in French-Canadians.
Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, Dupré N, Prévost C, Bouchard JP, Mathieu J, Brais B. Thiffault I, et al. Among authors: brais b. Can J Neurol Sci. 2013 Jan;40(1):61-6. doi: 10.1017/s0317167100012968. Can J Neurol Sci. 2013. PMID: 23250129
Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.
Tétreault M, Gonzalez M, Dicaire MJ, Allard P, Gehring K, Leblanc D, Leclerc N, Schondorf R, Mathieu J, Zuchner S, Brais B. Tétreault M, et al. Among authors: brais b. Brain. 2015 Jun;138(Pt 6):1477-83. doi: 10.1093/brain/awv074. Epub 2015 Mar 28. Brain. 2015. PMID: 25818867 Free PMC article.
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
Choquet K, Tétreault 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. Choquet K, et al. Among authors: brais b. Eur J Hum Genet. 2016 Jul;24(7):1016-21. doi: 10.1038/ejhg.2015.240. Epub 2015 Dec 2. Eur J Hum Genet. 2016. PMID: 26626314 Free PMC article.
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
Choquet K, Zurita-Rendón O, La Piana R, Yang S, Dicaire MJ; Care4Rare Consortium; Boycott KM, Majewski J, Shoubridge EA, Brais B, Tétreault M. Choquet K, et al. Among authors: brais b. Brain. 2016 Mar;139(Pt 3):e19. doi: 10.1093/brain/awv362. Epub 2015 Dec 10. Brain. 2016. PMID: 26657514 No abstract available.
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, Shao YH, Topf A, O'Ferrall E, Eymard B, Straub V, Blanco G, Lochmüller H, Brais B, Laporte J, Tétreault M. Vasli N, et al. Among authors: brais b. Brain. 2017 Jan;140(1):37-48. doi: 10.1093/brain/aww257. Epub 2016 Nov 5. Brain. 2017. PMID: 27816943 Free PMC article.
209 results