Claire S Leblond

Claire S Leblond

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Claire S Leblond

Claire S Leblond

Publications by authors named "Claire S Leblond"

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Somatic expansion of the hexanucleotide repeat does not occur in ALS spinal cord tissues.

Neurol Genet 2019 Apr 19;5(2):e317. Epub 2019 Mar 19.

Department of Human Genetics (J.P.R., G.A.R.), McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute and Hospital (J.P.R., H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Pasteur Institute (C.S.L.), University Paris Diderot, Sorbonne Paris Cité, Paris, France; Department of Neurology and Neurosurgery (H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Department of Clinical Neurological Sciences and Robarts Research Institute (K.V., M.S.A.N.N.), Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Sunnybrook Health Sciences Centre (L.Z.); and Tanz Centre for Research in Neurodegenerative Diseases (J.R.), University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454309PMC
April 2019

No rare deleterious variants from , , and are associated with essential tremor.

Neurol Genet 2017 Oct 19;3(5):e195. Epub 2017 Oct 19.

Montreal Neurological Institute and Hospital (G.H., A.A., J.-F.S., C.S.L., D.S., S.B.L., C.V.B., P.A.D., G.A.R.), Quebec, Canada; Department of Human Genetics (G.H., A.A., C.S.L., P.A.D., G.A.R.) and Department of Neurology and Neurosurgery (J.-F.S., P.A.D., G.A.R.), McGill University, Montreal, Quebec, Canada; Xenon Pharmaceuticals Inc (C.G.), Burnaby, British Columbia, Canada; André Barbeau Movement Disorders Unit (M.P., S.C.), Centre Hospitalier Universitaire de Montréal (CHUM)-Notre-Dame, Quebec, Canada; Department of Medicine (N.D.), Faculty of Medicine, Laval University, Quebec, Canada; Département des Sciences Neurologiques (N.D.), CHU de Québec (Enfant-Jésus), Quebec, Canada; Department of Medical Genetics (C.V.-G.), University of British Columbia, Vancouver, British Columbia, Canada; Division of Neurology (A.R.), Saskatchewan Movement Disorders Program, University of Saskatchewan, Saskatoon Health Region, Saskatoon, Canada; and Département des Sciences Fondamentales (S.L.G.), Université du Québec à Chicoutimi, Saguenay, Canada.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281551PMC
October 2017

Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease.

Neurobiol Aging 2016 09 3;45:212.e13-212.e17. Epub 2016 May 3.

Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.04.023DOI Listing
September 2016

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Nat Genet 2016 09 25;48(9):1037-42. Epub 2016 Jul 25.

Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560030PMC
September 2016

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

Nat Commun 2016 Apr 15;7:11253. Epub 2016 Apr 15.

Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia.

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http://dx.doi.org/10.1038/ncomms11253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835537PMC
April 2016

De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia.

Neurol Genet 2016 Apr 10;2(2):e63. Epub 2016 Mar 10.

Department of Human Genetics (C.S.L., Z.G.-O.), Montreal Neurological Institute and Hospital (C.S.L., A.W., Z.G.-O., F.M., A.D., P.A.D., G.A.R.), and Department of Neurology and Neurosurgery (A.W., F.M., A.D., P.A.D., G.A.R.), McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830191PMC
April 2016

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD.

Acta Neuropathol Commun 2016 Feb 25;4:18. Epub 2016 Feb 25.

Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, London, SE5 9NU, UK.

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http://www.actaneurocomms.org/content/pdf/s40478-016-0289-4.
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http://link.springer.com/content/pdf/10.1186%2Fs40478-016-02
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http://actaneurocomms.biomedcentral.com/articles/10.1186/s40
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http://dx.doi.org/10.1186/s40478-016-0289-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766718PMC
February 2016

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis.

Neurobiol Aging 2016 Jan 28;37:209.e17-209.e21. Epub 2015 Sep 28.

Montreal Neurological Institute and Hospital, McGill University, Montreal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.09.013DOI Listing
January 2016

Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome.

Sleep Med 2015 Sep 17;16(9):1151-5. Epub 2015 Jun 17.

Montreal Neurological Institute and McGill University, Montréal, QC, Canada; Department of Human Genetics, McGill University, Montréal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.sleep.2015.06.002DOI Listing
September 2015

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder.

Ann Clin Transl Neurol 2015 Sep 31;2(9):941-5. Epub 2015 Jul 31.

Montreal Neurological Institute, McGill University Montréal, Quebec, Canada ; Department of Human Genetics, McGill University Montréal, Quebec, Canada ; Department of Neurology and Neurosurgery, McGill University Montréal, Quebec, Canada.

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http://dx.doi.org/10.1002/acn3.228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574811PMC
September 2015

LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis.

Parkinsonism Relat Disord 2015 Jul 5;21(7):778-82. Epub 2015 May 5.

Montreal Neurological Institute, McGill University, Montréal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2015.05.002DOI Listing
July 2015

Genetic markers of Restless Legs Syndrome in Parkinson disease.

Parkinsonism Relat Disord 2015 Jun 17;21(6):582-5. Epub 2015 Mar 17.

Montreal Neurological Institute, McGill University, Montreal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2015.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441838PMC
June 2015

Dissection of genetic factors associated with amyotrophic lateral sclerosis.

Exp Neurol 2014 Dec 26;262 Pt B:91-101. Epub 2014 Apr 26.

Montreal Neurological Institute and Hospital, McGill University, Montreal, Qc, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Qc, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.expneurol.2014.04.013DOI Listing
December 2014

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

PLoS Genet 2014 Sep 4;10(9):e1004580. Epub 2014 Sep 4.

Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France; CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France; University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France; FondaMental Foundation, Créteil, France.

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http://dx.doi.org/10.1371/journal.pgen.1004580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154644PMC
September 2014

The Autism ProSAP1/Shank2 mouse model displays quantitative and structural abnormalities in ultrasonic vocalisations.

Behav Brain Res 2013 Nov 28;256:677-89. Epub 2013 Aug 28.

Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France; CNRS URA 2182 'Genes, synapses and cognition', Institut Pasteur, Paris, France; University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.bbr.2013.08.031DOI Listing
November 2013

Behavioral profiles of mouse models for autism spectrum disorders.

Autism Res 2011 Feb 5;4(1):5-16. Epub 2011 Jan 5.

Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France.

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http://doi.wiley.com/10.1002/aur.175
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http://dx.doi.org/10.1002/aur.175DOI Listing
February 2011