Martine Tetreault, Ph.D.

2013 Molecular Biology Université de Montréal, Montréal, Canada 
Neurogenetics, neurodegenerative disorders, neuromuscular disorders, hereditary ataxias
"Martine Tetreault"
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Bernard Brais grad student 2013 Université de Montréal
 (Etude de nouvelles maladies neurogenetiques chez les Canadien francais.)
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Alcantara D, Elmslie F, Tetreault M, et al. (2017) SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation. Human Molecular Genetics. 26: 3713-3721
Ylikallio E, Woldegebriel R, Tumiati M, et al. (2017) MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. Brain : a Journal of Neurology
Kernohan KD, Dyment DA, Pupavac M, et al. (2017) Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. Human Mutation
La Piana R, Weraarpachai W, Ospina LH, et al. (2017) Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype. Neurogenetics
Ejaz R, Qin W, Huang L, et al. (2016) Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation. American Journal of Medical Genetics. Part A
Stray-Pedersen A, Cobben JM, Prescott TE, et al. (2015) Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. American Journal of Human Genetics
Choquet K, Zurita-Rendón O, La Piana R, et al. (2015) Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. Brain : a Journal of Neurology
Boycott KM, Beaulieu CL, Kernohan KD, et al. (2015) Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8. American Journal of Human Genetics. 97: 886-93
Choquet K, Tétreault M, Yang S, et al. (2015) SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. European Journal of Human Genetics : Ejhg
Vanstone JR, Smith AM, McBride S, et al. (2015) DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. European Journal of Human Genetics : Ejhg
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