Martine Tétreault

Thème (s)

• Neuro-omics pour l’étude des maladies neuromusculaires et neurodégénératives;
• Génomique fonctionnelle et modèles cellulaires pour identifier les mécanismes pathogènes des maladies neuromusculaires et neurodégénératives;
• Bioinformatique pour l’analyse de données omics.

Publications choisies

• Labrecque M, Touma L, Bhérer C, Duquette A*, Tétreault M*. Estimated prevalence of Niemann-Pick type C disease in Quebec. Scientific Reports 2021 Nov 19;11(1):22621.
• Sidibé H, Khalfallah Y, Xiao S, Gómez NB, Fakim H, Tank EMH, Tomasso GD, Bareke E, Aulas A, McKeever PM, Melamed Z, Destroimaisons L, Deshaies JE, Zinman L, Parker JA, Legault P, Tétreault M, Barmada SJ, Robertson J, Velde CV*. TDP-43 stabilizes G3BP1 mRNA: relevance to amyotrophic lateral sclerosis/frontotemporal dementia. Brain 2021 Jun 11.
• Touma L, Labrecque M, Tetreault M*, Duquette A*. Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec. Scientific Reports 2021 May 4;11(1):10344.
• Nicolau S, Choquet K, Bareke E, Shao YH, Brais B, O’Ferrall EK, Tetreault M*, Karamchandani J*. A molecluar diagnosis of LGMDR1 established by RNA sequencing. Canadian Journal of Neurological Science 2020 Jul 10, 1-11.
• Tetreault M, Deshaies JE, Semmler S, Sibide H, Shkreta L, Volkening K, Soreq H, Strong MJ, Chabot B, Vande Velde C*. Reply: TDP-43 mutations increase HNRNP A1-7B through gain of splicing function. Brain 2018 Dec1;141(12).
• Vasli N#, Harris E#, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, Shao YH, Topf A, O’Ferral E, Eymard B, Straub V, Blanco G, Lochmuller H, Brais B, Laporte J*, Tetreault M* Recessive mutations in the kinase ZAK cause a congenital myopathy with fiber type disproportion. Brain 2017 Jan;140(1):37-48.
• Hoch N, Hanzlikova H, Rulten S, Tetreault M, Koumulainen E, Ju L, Zeng Z, McKinnon P, Wang ZQ, Wagner J, Yoon G*. XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. Nature 2017 Jan 5;541(7635):87-91.
• Choquet K, Zurita-Rendon O, La Piana R, Yang S, Dicaire MJ, Care4Rare Consortium Boycott KM, Majewski J, Shoudridge EA, Brais B, Tetreault M*. Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. Brain 2016 Mar; 139(Pt 3).