Martine Tetreault, Ph.D. - Publications

Affiliations: 
2013 Molecular Biology Université de Montréal, Montréal, Canada 
Area:
Neurogenetics, neurodegenerative disorders, neuromuscular disorders, hereditary ataxias

36 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2017 Alcantara D, Elmslie F, Tetreault M, Bareke E, Hartley T, Majewski J, Boycott K, Innes AM, Dyment DA, O'Driscoll M. 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. PMID 28934384 DOI: 10.1093/hmg/ddx256  0.48
2017 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, et al. MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. Brain : a Journal of Neurology. PMID 28633435 DOI: 10.1093/brain/awx138  0.48
2017 Kernohan KD, Dyment DA, Pupavac M, Cramer Z, McBride A, Bernard G, Straub I, Tetreault M, Hartley T, Huang L, Sell E, Majewski J, Rosenblatt DS, Shoubridge E, Mhanni A, et al. Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. Human Mutation. PMID 28185376 DOI: 10.1002/humu.23196  0.52
2017 La Piana R, Weraarpachai W, Ospina LH, Tetreault M, Majewski J, Bruce Pike G, Decarie JC, Tampieri D, Brais B, Shoubridge EA. Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype. Neurogenetics. PMID 28058511 DOI: 10.1007/s10048-016-0506-0  0.52
2016 Ejaz R, Qin W, Huang L, Blaser S, Tetreault M, Hartley T, Boycott KM, Carter MT. Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation. American Journal of Medical Genetics. Part A. PMID 26754023 DOI: 10.1002/ajmg.a.37541  0.52
2015 Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K, Ahmed S, Alders M, Gerstner T, Aslaksen K, Tétreault M, Qin W, Hartley T, Jhangiani SN, Muzny DM, et al. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. American Journal of Human Genetics. PMID 26708751 DOI: 10.1016/j.ajhg.2015.11.004  0.52
2015 Choquet K, Zurita-Rendón O, La Piana R, Yang S, Dicaire MJ, Boycott KM, Majewski J, Shoubridge EA, Brais B, Tétreault M. Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. Brain : a Journal of Neurology. PMID 26657514 DOI: 10.1093/brain/awv362  0.52
2015 Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Küry S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, et al. 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. PMID 26637978 DOI: 10.1016/j.ajhg.2015.11.002  0.52
2015 Choquet K, Tétreault M, Yang S, La Piana R, Dicaire MJ, Vanstone MR, Mathieu J, Bouchard JP, Rioux MF, Rouleau GA, Boycott KM, Majewski J, Brais B. SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. European Journal of Human Genetics : Ejhg. PMID 26626314 DOI: 10.1038/ejhg.2015.240  0.52
2015 Vanstone JR, Smith AM, McBride S, Naas T, Holcik M, Antoun G, Harper ME, Michaud J, Sell E, Chakraborty P, Tetreault M, Majewski J, Baird S, Boycott KM, et al. DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. European Journal of Human Genetics : Ejhg. PMID 26604000 DOI: 10.1038/ejhg.2015.243  0.52
2015 Faden M, AlZahrani F, Mendoza-Londono R, Dupuis L, Hartley T, Kannu P, Raiman JA, Howard A, Qin W, Tetreault M, Xi JQ, Al-Thamer I, Maas RL, Boycott K, et al. Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. American Journal of Human Genetics. 97: 608-15. PMID 26365341 DOI: 10.1016/j.ajhg.2015.08.007  0.52
2015 Kernohan KD, Tétreault M, Liwak-Muir U, Geraghty MT, Qin W, Venkateswaran S, Davila J, Holcik M, Majewski J, Richer J, Boycott KM. Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability. Human Molecular Genetics. 24: 6293-300. PMID 26307080 DOI: 10.1093/hmg/ddv337  0.52
2015 Wagner JD, Huang L, Tetreault M, Majewski J, Boycott KM, Bulman DE, Dyment DA, McMillan HJ. Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2. Neuromuscular Disorders : Nmd. 25: 794-9. PMID 26298607 DOI: 10.1016/j.nmd.2015.07.017  0.52
2015 Imai A, Nakaya A, Fahiminiya S, Tétreault M, Majewski J, Sakata Y, Takashima S, Lathrop M, Ott J. Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing. Scientific Reports. 5: 12028. PMID 26143870 DOI: 10.1038/srep12028  0.52
2015 Tetreault M, Fahiminiya S, Antonicka H, Mitchell GA, Geraghty MT, Lines M, Boycott KM, Shoubridge EA, Mitchell JJ, Michaud JL, Majewski J. Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. Human Genetics. 134: 981-91. PMID 26099313 DOI: 10.1007/s00439-015-1577-y  0.52
2015 Sawyer SL, Cheuk-Him Ng A, Innes AM, Wagner JD, Dyment DA, Tetreault M, Majewski J, Boycott KM, Screaton RA, Nicholson G. Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. Human Molecular Genetics. PMID 26085578 DOI: 10.1093/hmg/ddv229  0.52
2015 Mendoza-Londono R, Fahiminiya S, Majewski J, Tétreault M, Nadaf J, Kannu P, Sochett E, Howard A, Stimec J, Dupuis L, Roschger P, Klaushofer K, Palomo T, Ouellet J, et al. Recessive osteogenesis imperfecta caused by missense mutations in SPARC. American Journal of Human Genetics. 96: 979-85. PMID 26027498 DOI: 10.1016/j.ajhg.2015.04.021  0.52
2015 Tetreault M, Bareke E, Nadaf J, Alirezaie N, Majewski J. Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities. Expert Review of Molecular Diagnostics. 15: 749-60. PMID 25959410 DOI: 10.1586/14737159.2015.1039516  0.52
2015 Tétreault M, Gonzalez M, Dicaire MJ, Allard P, Gehring K, Leblanc D, Leclerc N, Schondorf R, Mathieu J, Zuchner S, Brais B. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. Brain : a Journal of Neurology. 138: 1477-83. PMID 25818867 DOI: 10.1093/brain/awv074  0.52
2015 Xi Y, Honeywell C, Zhang D, Schwartzentruber J, Beaulieu CL, Tetreault M, Hartley T, Marton J, Vidal SM, Majewski J, Aravind L, Gollob M, Boycott KM, Gow RM. Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia. International Journal of Cardiology. 185: 114-6. PMID 25791106 DOI: 10.1016/j.ijcard.2015.03.130  0.52
2015 Dyment DA, Tétreault M, Beaulieu CL, Hartley T, Ferreira P, Chardon JW, Marcadier J, Sawyer SL, Mosca SJ, Innes AM, Parboosingh JS, Bulman DE, Schwartzentruber J, Majewski J, Tarnopolsky M, et al. Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. Clinical Genetics. 88: 34-40. PMID 25046240 DOI: 10.1111/cge.12464  0.52
2014 Aldinger KA, Mosca SJ, Tétreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, et al. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. American Journal of Human Genetics. 95: 227-34. PMID 25105227 DOI: 10.1016/j.ajhg.2014.07.007  0.52
2013 Daoud H, Tétreault M, Gibson W, Guerrero K, Cohen A, Gburek-Augustat J, Synofzik M, Brais B, Stevens CA, Sanchez-Carpintero R, Goizet C, Naidu S, Vanderver A, Bernard G. Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. Journal of Medical Genetics. 50: 194-7. PMID 23355746 DOI: 10.1136/jmedgenet-2012-101357  0.52
2013 Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, et al. Diversity of ARSACS mutations in French-Canadians. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 40: 61-6. PMID 23250129  0.52
2012 Bayat V, Thiffault I, Jaiswal M, Tétreault M, Donti T, Sasarman F, Bernard G, Demers-Lamarche J, Dicaire MJ, Mathieu J, Vanasse M, Bouchard JP, Rioux MF, Lourenco CM, Li Z, et al. Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. Plos Biology. 10: e1001288. PMID 22448145 DOI: 10.1371/journal.pbio.1001288  0.52
2012 Tétreault M, Putorti ML, Thiffault I, Sylvain M, Venderver A, Schiffmann R, Brais B, Bernard G. TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 39: 122-3. PMID 22384513  0.52
2011 Tétreault M, Choquet K, Orcesi S, Tonduti D, Balottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. American Journal of Human Genetics. 89: 652-5. PMID 22036172 DOI: 10.1016/j.ajhg.2011.10.006  0.52
2011 Tétreault M, Srour M, Allyson J, Thiffault I, Loisel L, Robitaille Y, Bouchard JP, Brais B. Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 38: 747-52. PMID 21856579  0.52
2011 Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Carosso G, Clément I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, et al. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. American Journal of Human Genetics. 89: 415-23. PMID 21855841 DOI: 10.1016/j.ajhg.2011.07.014  0.52
2010 Bernard G, Thiffault I, Tetreault M, Putorti ML, Bouchard I, Sylvain M, Melançon S, Laframboise R, Langevin P, Bouchard JP, Vanasse M, Vanderver A, Sébire G, Brais B. Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. Neurogenetics. 11: 457-64. PMID 20640464 DOI: 10.1007/s10048-010-0251-8  0.52
2009 Loggia ML, Bushnell MC, Tétreault M, Thiffault I, Bhérer C, Mohammed NK, Kuchinad AA, Laferrière A, Dicaire MJ, Loisel L, Mogil JS, Brais B. Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 29: 2162-6. PMID 19228968 DOI: 10.1523/JNEUROSCI.4633-08.2009  0.52
2008 Gosselin I, Thiffault I, Tétreault M, Chau V, Dicaire MJ, Loisel L, Emond M, Senderek J, Mathieu J, Dupré N, Vanasse M, Puymirat J, Brais B. Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. Neuromuscular Disorders : Nmd. 18: 483-92. PMID 18511281 DOI: 10.1016/j.nmd.2008.04.001  0.52
2007 Rossignol E, Mathieu J, Thiffault I, Tétreault M, Dicaire MJ, Chrestian N, Dupré N, Puymirat J, Brais B. A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians. Neurology. 69: 1937-41. PMID 17998485 DOI: 10.1212/01.wnl.0000290831.08585.2c  0.52
2007 Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, Tétreault M, Loisel L, Bouchard JP, Brais B. A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. Brain : a Journal of Neurology. 130: 368-80. PMID 17008331 DOI: 10.1093/brain/awl270  0.52
2006 Tétreault M, Duquette A, Thiffault I, Bherer C, Jarry J, Loisel L, Banwell B, D'Anjou G, Mathieu J, Robitaille Y, Vanasse M, Brais B. A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21. Brain : a Journal of Neurology. 129: 2077-84. PMID 16760198 DOI: 10.1093/brain/awl146  0.52
2006 Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B. A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. Brain : a Journal of Neurology. 129: 2332-40. PMID 16672289 DOI: 10.1093/brain/awl110  0.52
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