Martine Tetreault, Ph.D.
Affiliations: | 2013 | Molecular Biology | Université de Montréal, Montréal, Canada |
Area:
Neurogenetics, neurodegenerative disorders, neuromuscular disorders, hereditary ataxiasGoogle:
"Martine Tetreault"Mean distance: 20.63 (cluster 28)
Parents
Sign in to add mentor| Bernard Brais | grad student | 2013 | Université de Montréal | |
| (Etude de nouvelles maladies neurogenetiques chez les Canadien francais.) | ||||
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Publications
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| Audet S, Triassi V, Gelinas M, et al. (2024) Integration of multi-omics technologies for molecular diagnosis in ataxia patients. Frontiers in Genetics. 14: 1304711 |
| Nguyen E, Tétreault M, Toffa DH, et al. (2023) Novel NALCN variant linked to temporal lobe epilepsy. American Journal of Medical Genetics. Part A |
| Pellerin D, Danzi MC, Wilke C, et al. (2022) Deep Intronic GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. The New England Journal of Medicine |
| Mezreani J, Audet S, Martin F, et al. (2022) Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing. Npj Genomic Medicine. 7: 36 |
| Labrecque M, Touma L, Bhérer C, et al. (2021) Estimated prevalence of Niemann-Pick type C disease in Quebec. Scientific Reports. 11: 22621 |
| Touma L, Labrecque M, Tetreault M, et al. (2021) Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec. Scientific Reports. 11: 10344 |
| Gauquelin L, Hartley T, Tarnopolsky M, et al. (2020) Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy. Movement Disorders Clinical Practice. 7: 940-949 |
| Nicolau S, Choquet K, Bareke E, et al. (2020) A molecular diagnosis of LGMDR1 established by RNA sequencing. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 1-11 |
| Mahjoub A, Cihlarova Z, Tétreault M, et al. (2019) Homozygous pathogenic variant in associated with nonprogressive cerebellar ataxia. Neurology. Genetics. 5: e359 |
| Fitzsimons PE, Alston CL, Bonnen PE, et al. (2018) Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency. American Journal of Medical Genetics. Part A |