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Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing.
Mezreani J, Audet S, Martin F, Charbonneau J, Triassi V, Bareke E, Laplante A, Karamchandani J, Massie R, Chalk CH, O'Ferrall E, Tétreault M. Mezreani J, et al. Among authors: tetreault m. NPJ Genom Med. 2022 Jun 7;7(1):36. doi: 10.1038/s41525-022-00307-y. NPJ Genom Med. 2022. PMID: 35672413 Free PMC article.
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: tetreault m. Brain. 2017 Jan;140(1):37-48. doi: 10.1093/brain/aww257. Epub 2016 Nov 5. Brain. 2017. PMID: 27816943 Free PMC article.
A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing.
Nicolau S, Choquet K, Bareke E, Shao YH, Brais B, O'Ferrall EK, Tétreault M, Karamchandani J. Nicolau S, et al. Among authors: tetreault m. Can J Neurol Sci. 2021 Mar;48(2):293-296. doi: 10.1017/cjn.2020.141. Epub 2020 Jul 10. Can J Neurol Sci. 2021. PMID: 32646536 No abstract available.
TDP-43 stabilizes G3BP1 mRNA: relevance to amyotrophic lateral sclerosis/frontotemporal dementia.
Sidibé H, Khalfallah Y, Xiao S, Gómez NB, Fakim H, Tank EMH, Di Tomasso G, Bareke E, Aulas A, McKeever PM, Melamed Z, Destroimaisons L, Deshaies JE, Zinman L, Parker JA, Legault P, Tétreault M, Barmada SJ, Robertson J, Vande Velde C. Sidibé H, et al. Among authors: tetreault m. Brain. 2021 Dec 16;144(11):3461-3476. doi: 10.1093/brain/awab217. Brain. 2021. PMID: 34115105 Free PMC article.
Does the adenosine deaminase (ADA) gene confer risk of sleepwalking?
Fournier S, Dauvilliers Y, Warby SC, Labrecque M, Zadra A, Boucetta S, El Gewely M, Kaddioui H, Lopez R, Montplaisir JY, Bareke E, Tétreault M, Desautels A. Fournier S, et al. Among authors: tetreault m. J Sleep Res. 2022 Aug;31(4):e13537. doi: 10.1111/jsr.13537. Epub 2021 Dec 15. J Sleep Res. 2022. PMID: 34913218
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: tetreault m. 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.
POLR3A variants in hereditary spastic paraplegia and ataxia.
Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G. Gauquelin L, et al. Among authors: tetreault m. Brain. 2018 Jan 1;141(1):e1. doi: 10.1093/brain/awx290. Brain. 2018. PMID: 29228109 Free PMC article. No abstract available.
168 results