Martine Tetreault

Martine Tetreault

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Martine Tetreault

Martine Tetreault

Publications by authors named "Martine Tetreault"

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41Publications

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Homozygous pathogenic variant in associated with nonprogressive cerebellar ataxia.

Neurol Genet 2019 Oct 4;5(5):e359. Epub 2019 Sep 4.

Division of Neurology (A.M., G.Y.), Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Canada; Department of Genome Dynamics (Z.C., K.W.C., H.H.), Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic; Faculty of Science (Z.C.), Charles University in Prague, Czech Republic; Department of Neuroscience (M.T.), Université de Montréal, CHUM, Montréal, Québec, Canada; Department of Paediatric Laboratory Medicine (L.M.), Hospital for Sick Children; Department of Lab Medicine and Pathobiology (L.M.), University of Toronto, Ontario, Canada; Program in Genetics and Genome Biology (N.S.), SickKids Research Institute, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics (N.S., G.Y.), Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada; and Genome Damage and Stability Centre (K.W.C., H.H.), School of Life Sciences, University of Sussex, Falmer, Brighton, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773431PMC
October 2019

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 Feb 21;61(2):89-93. Epub 2017 Oct 21.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1016/j.ejmg.2017.10.011DOI Listing
February 2018

mutations are associated with features of complex hereditary spastic paraparesis.

Neurology 2017 11 11;89(21):2210-2211. Epub 2017 Oct 11.

From McMaster University (M.A.T., L.B.), Hamilton; and McGill University (M.T.), Montreal, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000004657DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5696640PMC
November 2017

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Pediatr Neurol 2017 01 13;66:59-62. Epub 2016 Sep 13.

Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington, DC. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.09.003DOI Listing
January 2017

Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.

Mol Genet Genomic Med 2016 Sep 10;4(5):504-12. Epub 2016 May 10.

Children's Hospital of Eastern Ontario Research InstituteUniversity of OttawaOttawaOntarioCanada; Department of GeneticsChildren's Hospital of Eastern Ontario ResearchOttawaOntarioCanada.

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http://dx.doi.org/10.1002/mgg3.223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023935PMC
September 2016

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

Eur J Hum Genet 2016 07 2;24(7):1016-21. Epub 2015 Dec 2.

Neurogenetics of Motion Laboratory, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Québec, Canada.

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http://www.nature.com/doifinder/10.1038/ejhg.2015.240
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http://dx.doi.org/10.1038/ejhg.2015.240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070891PMC
July 2016

Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation.

Am J Med Genet A 2016 Apr 11;170A(4):1070-5. Epub 2016 Jan 11.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37541DOI Listing
April 2016

Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia.

Neurogenetics 2016 Apr 26;17(2):137-41. Epub 2016 Feb 26.

Neurogenetics of Motion Laboratory, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC, H3A 2B4, Canada.

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http://dx.doi.org/10.1007/s10048-016-0476-2DOI Listing
April 2016

Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

Brain 2016 Mar 10;139(Pt 3):e19. Epub 2015 Dec 10.

2 Department of Human Genetics, McGill University, Montreal, Québec, Canada 4 McGill University and Genome Quebec Innovation Centre, Montreal, Québec, Canada

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http://dx.doi.org/10.1093/brain/awv362DOI Listing
March 2016

Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.

Hum Mol Genet 2015 Nov 24;24(22):6293-300. Epub 2015 Aug 24.

Children's Hospital of Eastern Ontario Research Institute, Department of Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, Canada K1H 8L1

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http://dx.doi.org/10.1093/hmg/ddv337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614701PMC
November 2015

Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2.

Neuromuscul Disord 2015 Oct 5;25(10):794-9. Epub 2015 Aug 5.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2015.07.017DOI Listing
October 2015

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.

Am J Hum Genet 2015 Oct 10;97(4):608-15. Epub 2015 Sep 10.

Department of Genetics, King Faisal and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596891PMC
October 2015

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

Hum Mol Genet 2015 Sep 17;24(18):5109-14. Epub 2015 Jun 17.

ANZAC Research Institute, University of Sydney, Concord Hospital, New South Wales, Australia.

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http://dx.doi.org/10.1093/hmg/ddv229DOI Listing
September 2015

Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing.

Sci Rep 2015 Jul 6;5:12028. Epub 2015 Jul 6.

Institute of Psychology, Chinese Academy of Sciences, Beijing, China 100101; and Rockefeller University, New York, NY 10065, USA.

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http://dx.doi.org/10.1038/srep12028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155624PMC
July 2015

Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.

Brain 2015 Jun 28;138(Pt 6):1477-83. Epub 2015 Mar 28.

1 Neurogenetics of Motion Laboratory, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, H3A 2B4, Canada 5 Cliniques des maladies neuromusculaires, CSSS-Jonquière, Quebec, G7H 7K9, Canada

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https://academic.oup.com/brain/article-lookup/doi/10.1093/br
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http://dx.doi.org/10.1093/brain/awv074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4542621PMC
June 2015

Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.

Expert Rev Mol Diagn 2015 Jun 9;15(6):749-60. Epub 2015 May 9.

Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada.

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http://www.ambrygen.com/sites/default/files/web/publications
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http://dx.doi.org/10.1586/14737159.2015.1039516DOI Listing
June 2015

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

Neurogenetics 2010 Oct 17;11(4):457-64. Epub 2010 Jul 17.

Laboratoire de neurogénétique de la motricité, Neuromics Center for Excellence of Université de Montréal, CRCHUM, 1560 Sherbrooke East, Montreal, Quebec, H2L 4M1, Canada.

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http://dx.doi.org/10.1007/s10048-010-0251-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4147760PMC
October 2010

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.

Neuromuscul Disord 2008 Jun 3;18(6):483-92. Epub 2008 Jun 3.

Laboratoire de neurogénétique de la motricité, Centre d'Excellence en Neuromique de l'Université de Montréal, Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Hôpital Notre-Dame-CHUM, Montréal, Que., Canada.

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http://dx.doi.org/10.1016/j.nmd.2008.04.001DOI Listing
June 2008