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The J Domain of Sacsin Disrupts Intermediate Filament Assembly.
Dabbaghizadeh A, Paré A, Cheng-Boivin Z, Dagher R, Minotti S, Dicaire MJ, Brais B, Young JC, Durham HD, Gentil BJ. Dabbaghizadeh A, et al. Among authors: brais b. Int J Mol Sci. 2022 Dec 12;23(24):15742. doi: 10.3390/ijms232415742. Int J Mol Sci. 2022. PMID: 36555380 Free PMC article.
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Girard M, Larivière R, Parfitt DA, Deane EC, Gaudet R, Nossova N, Blondeau F, Prenosil G, Vermeulen EG, Duchen MR, Richter A, Shoubridge EA, Gehring K, McKinney RA, Brais B, Chapple JP, McPherson PS. Girard M, et al. Among authors: brais b. Proc Natl Acad Sci U S A. 2012 Jan 31;109(5):1661-6. doi: 10.1073/pnas.1113166109. Epub 2012 Jan 17. Proc Natl Acad Sci U S A. 2012. PMID: 22307627 Free PMC article.
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
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Larivière R, Gaudet R, Gentil BJ, Girard M, Conte TC, Minotti S, Leclerc-Desaulniers K, Gehring K, McKinney RA, Shoubridge EA, McPherson PS, Durham HD, Brais B. Larivière R, et al. Among authors: brais b. Hum Mol Genet. 2015 Feb 1;24(3):727-39. doi: 10.1093/hmg/ddu491. Epub 2014 Sep 26. Hum Mol Genet. 2015. PMID: 25260547 Free PMC article.
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.
209 results