The Neuromuscular Disease Network for Canada


Martine Tetreault

Martine tetreault

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Research Interests: myopathies, muscular dystrophies, genetics, omics, heterogeneity

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Dr. Tetreault is an Assistant professor in the department of Neuroscience at Université de Montreal and a researcher at the CRCHUM since January 2018.  She completed her graduate studies in Molecular Biology at Université de Montreal under the supervision of Dr Bernard Brais (CIHR bursary). Her research was focusing on genetic characterization of neurological diseases in the French-Canadian population. Martine has then pursued her training as a post-doctoral fellow in the Human Genetic program at McGill University under the supervision of Dr Jacek Majewski (CIHR fellowship), where she has broadened her expertise of genetic studies by developing bio-informatics skills. Martine was performing the exome and whole genome sequencing analysis as part of the Care for Rare consortium led by Dr Kym Boycott in Ottawa. During this time, she has also put in place collaborations with neurologists and pathologists in order to use RNA-sequencing to find genetic causes of unresolved myopathy patients. As an independent researcher, Dr. Tetreault is aiming at combining multiple omic approaches to study the genetic etiology of neuromuscular and neurodegenerative diseases. As a young investigator, Dr. Tetreault has been very productive with more than 50 publication, some of which in high impact journals such as Nature, Brain and American Journal of Human Genetics. She has received funding from the Fondation Courtois, National Ataxia Foundation, Fondation du Grand Defi Pierre Lavoie and Network of Centres of Excellence in Neurodegeneration.  She has also received a FRQS Junior 1 salary award.

Read Dr. Tetreault’s blog here!

Recent publications

Sidibé, H, Khalfallah, Y, Xiao, S, Gómez, NB, Fakim, H, Tank, EMH et al.. TDP-43 stabilizes G3BP1 mRNA: relevance to amyotrophic lateral sclerosis/frontotemporal dementia. Brain. 2021. PMID:34115105

Touma, L, Labrecque, M, Tetreault, M, Duquette, A. Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec. Sci Rep. 2021.11 (1)10344 PMID:33990640

Gauquelin, L, Hartley, T, Tarnopolsky, M, Dyment, DA, Brais, B, Geraghty, MT et al.. Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy. Mov Disord Clin Pract. 2020.7 (8)940-949 PMID:33163565

Nicolau, S, Choquet, K, Bareke, E, Shao, YH, Brais, B, O'Ferrall, EK et al.. A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing. Can J Neurol Sci. 2021.48 (2)293-296 PMID:32646536

Mahjoub, A, Cihlarova, Z, Tétreault, M, MacNeil, L, Sondheimer, N, Caldecott, KW et al.. Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia. Neurol Genet. 2019.5 (5)e359 PMID:31742228

Tétreault, M, Deshaies, JE, Semmler, S, Sidibé, H, Shkreta, L, Volkening, K et al.. Reply: TDP-43 mutations increase HNRNP A1-7B through gain of splicing function. Brain. 2018.141 (12)e84 PMID:30364932

Fitzsimons, PE, Alston, CL, Bonnen, PE, Hughes, J, Crushell, E, Geraghty, MT et al.. Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency. Am J Med Genet A. 2018.176 (5)1115-1127 PMID:29575569

Gauquelin, L, Tétreault, M, Thiffault, I, Farrow, E, Miller, N, Yoo, B et al.. POLR3A variants in hereditary spastic paraplegia and ataxia. Brain. 2018.141 (1)e1 PMID:29228109

Bourque, DK, Hartley, T, Nikkel, SM, Pohl, D, Tétreault, M, Kernohan, KD et al.. A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature. Eur J Med Genet. 2018.61 (2)89-93 PMID:29066376

Tarnopolsky, MA, Brady, L, Tetreault, M, Care4Rare Canada Consortium. TRMT5 mutations are associated with features of complex hereditary spastic paraparesis. Neurology. 2017.89 (21)2210-2211 PMID:29021354

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