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Page 1
Characterization of a novel SPG3A deletion in a French-Canadian family.
Meijer IA, Dion P, Laurent S, Dupré N, Brais B, Levert A, Puymirat J, Rioux MF, Sylvain M, Zhu PP, Soderblom C, Stadler J, Blackstone C, Rouleau GA. Meijer IA, et al. Among authors: rioux mf. Ann Neurol. 2007 Jun;61(6):599-603. doi: 10.1002/ana.21114. Ann Neurol. 2007. PMID: 17427918
CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects.
Noreau A, Dion PA, Szuto A, Levert A, Thibodeau P, Brais B, Dupré N, Rioux MF, Rouleau GA. Noreau A, et al. Among authors: rioux mf. Can J Neurol Sci. 2012 Jan;39(1):91-4. doi: 10.1017/s0317167100012774. Can J Neurol Sci. 2012. PMID: 22384504 No abstract available.
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: rioux mf. 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.
Triple A syndrome presenting as complicated hereditary spastic paraplegia.
Leveille E, Gonorazky HD, Rioux MF, Hazrati LN, Ruskey JA, Carnevale A, Spiegelman D, Dionne-Laporte A, Rouleau GA, Yoon G, Gan-Or Z. Leveille E, et al. Among authors: rioux mf. Mol Genet Genomic Med. 2018 Nov;6(6):1134-1139. doi: 10.1002/mgg3.492. Epub 2018 Oct 31. Mol Genet Genomic Med. 2018. PMID: 30381913 Free PMC article.
Genetic, structural and clinical analysis of spastic paraplegia 4.
Varghaei P, Estiar MA, Ashtiani S, Veyron S, Mufti K, Leveille E, Yu E, Spiegelman D, Rioux MF, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Suchowersky O, Trempe JF, Rouleau GA, Gan-Or Z. Varghaei P, et al. Among authors: rioux mf. Parkinsonism Relat Disord. 2022 May;98:62-69. doi: 10.1016/j.parkreldis.2022.03.019. Epub 2022 Apr 16. Parkinsonism Relat Disord. 2022. PMID: 35487127
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofz… See abstract for full author list ➔ Pelletier F, et al. Among authors: rioux mf. J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700. J Clin Endocrinol Metab. 2021. PMID: 33005949 Free PMC article.
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, Genís D, Molina Porcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tétreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dubé MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schüle R, Schöls L, La Piana R, Synofzik M, Zuchner S, Brais B. Pellerin D, et al. Among authors: rioux mf. N Engl J Med. 2023 Jan 12;388(2):128-141. doi: 10.1056/NEJMoa2207406. Epub 2022 Dec 14. N Engl J Med. 2023. PMID: 36516086 Free PMC article.
19 results