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Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation.
Choquet K, Yang S, Moir RD, Forget D, Larivière R, Bouchard A, Poitras C, Sgarioto N, Dicaire MJ, Noohi F, Kennedy TE, Rochford J, Bernard G, Teichmann M, Coulombe B, Willis IM, Kleinman CL, Brais B. Choquet K, et al. Among authors: lariviere r. Mol Brain. 2017 Apr 13;10(1):13. doi: 10.1186/s13041-017-0294-y. Mol Brain. 2017. PMID: 28407788 Free PMC article.
Sacs R272C missense homozygous mice develop an ataxia phenotype.
Larivière R, Sgarioto N, Márquez BT, Gaudet R, Choquet K, McKinney RA, Watt AJ, Brais B. Larivière R, et al. Mol Brain. 2019 Mar 12;12(1):19. doi: 10.1186/s13041-019-0438-3. Mol Brain. 2019. PMID: 30866998 Free PMC article.
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Nümann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Trégouët DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G. Coutelier M, et al. Among authors: lariviere r. Brain. 2022 May 24;145(4):1519-1534. doi: 10.1093/brain/awab407. Brain. 2022. PMID: 34788392
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: lariviere r. Can J Neurol Sci. 2013 Jan;40(1):61-6. doi: 10.1017/s0317167100012968. Can J Neurol Sci. 2013. PMID: 23250129
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.
Duncan EJ, Larivière R, Bradshaw TY, Longo F, Sgarioto N, Hayes MJ, Romano LEL, Nethisinghe S, Giunti P, Bruntraeger MB, Durham HD, Brais B, Maltecca F, Gentil BJ, Chapple JP. Duncan EJ, et al. Among authors: lariviere r. Hum Mol Genet. 2017 Aug 15;26(16):3130-3143. doi: 10.1093/hmg/ddx197. Hum Mol Genet. 2017. PMID: 28535259 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: lariviere r. 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.
105 results