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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.
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.
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.
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.
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.
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lönnqvist T, Tyynismaa H. Ylikallio E, et al. Among authors: tetreault m. Brain. 2017 Aug 1;140(8):2093-2103. doi: 10.1093/brain/awx138. Brain. 2017. PMID: 28633435 Free article.
168 results