Publications by authors named "Patrick A Dion"

100Publications

Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project.

Mov Disord 2020 Nov 7. Epub 2020 Nov 7.

Department of Human Genetics, McGill University, Montréal, Québec, Canada.

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November 2020

Evolution of a Human-Specific Tandem Repeat Associated with ALS.

Am J Hum Genet 2020 09 3;107(3):445-460. Epub 2020 Aug 3.

Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

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September 2020

A polymorphism in the glutamate metabotropic receptor 7 is associated with cognitive deficits in the early phases of psychosis.

Schizophr Res 2020 Jul 2. Epub 2020 Jul 2.

Department of Psychiatry, McGill University, Montreal, Quebec, Canada; Douglas Mental Health University Institute, Montreal, Quebec, Canada.

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July 2020

Exome sequencing in genetic disease: recent advances and considerations.

F1000Res 2020 6;9. Epub 2020 May 6.

Department of Human Genetics, McGill University, 3640 University, Montréal, QC, H3A 0C7, Canada.

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August 2020

Oligogenicity, C9orf72 expansion, and variant severity in ALS.

Neurogenetics 2020 07 8;21(3):227-242. Epub 2020 May 8.

Department of Human Genetics, McGill University, Montréal, QC, Canada.

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July 2020

Reliability and correlation of mixture cell correction in methylomic and transcriptomic blood data.

BMC Res Notes 2020 Feb 12;13(1):74. Epub 2020 Feb 12.

Université de Paris, Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, 102-108 Rue de la Santé, 75014, Paris, France.

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February 2020

and Restless Legs Syndrome: A Comprehensive Review.

Front Neurol 2019 28;10:935. Epub 2019 Aug 28.

Montreal Neurological Institute, McGill University, Montreal, QC, Canada.

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August 2019

Genetic architecture and adaptations of Nunavik Inuit.

Proc Natl Acad Sci U S A 2019 08 22;116(32):16012-16017. Epub 2019 Jul 22.

Montreal Neurological Institute and Hospital, McGill University, Montréal, Québec, Canada H3A 2B4;

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August 2019

Genome-wide estimates of heritability and genetic correlations in essential tremor.

Parkinsonism Relat Disord 2019 07 4;64:262-267. Epub 2019 May 4.

Fundació Docència i Recerca Mútua Terrassa, University Hospital Mútua de Terrassa, Terrassa, 08221, Barcelona, Spain; Movement Disorders Unit, Department of Neurology, University Hospital Mútua de Terrassa, Terrassa, 08222, Barcelona, Spain. Electronic address:

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July 2019

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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April 2019

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.

Hum Genomics 2019 04 16;13(1):19. Epub 2019 Apr 16.

Center for Human Disease Modeling, Duke University Medical Center, Carmichael Building, 300 North Duke Street, Suite 48-118, Durham, NC, 27701, USA.

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April 2019

RNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement.

Mol Ther Nucleic Acids 2019 Apr 15;15:12-25. Epub 2019 Feb 15.

Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A2B4, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada. Electronic address:

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April 2019

Screening of novel restless legs syndrome-associated genes in French-Canadian families.

Neurol Genet 2018 Dec 20;4(6):e296. Epub 2018 Dec 20.

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

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December 2018

Investigating the association and causal relationship between restless legs syndrome and essential tremor.

Parkinsonism Relat Disord 2019 04 19;61:238-240. Epub 2018 Oct 19.

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

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April 2019

Multimodal neuroimaging analysis in patients with SYNE1 Ataxia.

J Neurol Sci 2018 07 4;390:227-230. Epub 2018 May 4.

Division of General Neurology and Ataxia Unit, Department of Neurology, Federal University of Sao Paulo, Sao Paulo, Brazil.

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July 2018

Genetics of Intracranial Aneurysms.

Stroke 2018 03 6;49(3):780-787. Epub 2018 Feb 6.

From the Montréal Neurological Institute and Hospital (S.Z., P.A.D., G.A.R.) and Department of Neurology and Neurosurgery (P.A.D., G.A.R.), McGill University, Québec, Canada; and Department of Medicine, Université de Montréal, Québec, Canada (S.Z.).

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March 2018

TOX3 Variants Are Involved in Restless Legs Syndrome and Parkinson's Disease with Opposite Effects.

J Mol Neurosci 2018 Mar 5;64(3):341-345. Epub 2018 Feb 5.

Montreal Neurological Institute and Hospital, The Department of Human Genetics, McGill University, 1033 Pine Avenue West, Ludmer Pavilion, room 312, Montreal, QC, H3A 1A1, Canada.

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March 2018

Association study of essential tremor genetic loci in Parkinson's disease.

Neurobiol Aging 2018 06 6;66:178.e13-178.e15. Epub 2018 Jan 6.

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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June 2018

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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October 2017

KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects.

Neurobiol Dis 2017 Oct 21;106:35-48. Epub 2017 Jun 21.

The Institute for Neurosciences of Montpellier, Inserm UMR1051, Saint Eloi Hospital, Montpellier, France; Université Montpellier 1 & 2, Montpellier, France. Electronic address:

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October 2017

Missense Mutation Associated With Fatty Acid Metabolism and Reduced Height in Greenlanders.

Circ Cardiovasc Genet 2017 Jun;10(3)

From the Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark (L.S., A.K., V.Y., B.S., M.A., S.W.M., J.E.N., J.M.M., M.L.B., F.G., M.M., B.F.); Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada (S.Z., P.A.D., G.A.R.); Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada (P.A.D., G.A.R.); Département de Médecine, Faculté de Médecine, Université de Montréal, Quebec, Canada (S.Z.); Greenland Center for Health Research, Institute of Nursing and Health Science, University of Greenland, Nuuk, Greenland (M.L.P.); Department of Clinical Medicine, University of Copenhagen, Denmark (M.M.); and Department of Medicine, Stanford University School of Medicine, California (M.M.).

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June 2017

RIC3 variants are not associated with Parkinson's disease in French-Canadians and French.

Neurobiol Aging 2017 05 11;53:194.e9-194.e11. Epub 2017 Jan 11.

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

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May 2017

Genetics of restless legs syndrome.

Sleep Med 2017 03 12;31:18-22. Epub 2016 Nov 12.

Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.

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March 2017

Clinical and genetic study of hereditary spastic paraplegia in Canada.

Neurol Genet 2017 Feb 5;3(1):e122. Epub 2016 Dec 5.

Division of Neurology (N.C., G.Y.), Division of Clinical and Metabolic Genetics (S. Ahmed, H.M., G.Y.), Department of Paediatrics, University of Toronto, The Hospital for Sick Children; Faculty of Medicine (N.C., N.D., J.-D.B., K.M.-A.), Laval University, Quebec City; Department of Neurological Sciences (N.D., P.P.), CHU de Québec; Department of Neurology and Neurosurgery (Z.G.-O., N.M., P.A.D., G.A.R.), McGill University, Montreal Neurological Institute, Quebec; Department of Medical Genetics (A.S.), University of Montreal, CHUM, Quebec; The Hospital for Sick Children Research Institute (S.C.), Child Health Evaluative Sciences/Biostatistics Design & Analysis Unit, Toronto, Ontario; Department of Medicine (A.V., O.S.), Division of Neurology, Department of Medical Genetics (S. Ashtiani, O.S.), University of Alberta, Edmonton; Department of Genetics (J.W.-C., K.M.B.), Children's Hospital of Eastern Ontario, Ottawa; CHU de Québec (K.M.-A.), Hôpital Enfant-Jésus, Quebec City; Department of Paediatric Laboratory Medicine (D.J.S., P.N.R.), The Hospital for Sick Children, Toronto, Ontario; and Department of Molecular Genetics (P.N.R.), The University of Toronto, Canada.

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February 2017

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.

Am J Hum Genet 2016 Nov 13;99(5):1072-1085. Epub 2016 Oct 13.

Montreal Neurological Institute and Hospital, McGill University, Montréal, QC H3A 2B4, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC H3A 0G4, Canada. Electronic address:

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November 2016

A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.

Eur J Med Genet 2016 Nov 8;59(11):564-568. Epub 2016 Oct 8.

Neurology, Department of Experimental and Clinical Medical Sciences, University of Udine Medical School and Department of Neurosciences, ''S. Maria della Misericordia'' University Hospital, Udine, Italy.

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November 2016

SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients.

Mov Disord 2016 11 27;31(11):1754-1756. Epub 2016 Sep 27.

Division of General Neurology and Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.

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November 2016

GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis.

Neurol Genet 2016 Oct 8;2(5):e104. Epub 2016 Sep 8.

Montreal Neurological Institute (V.M., J.P.R., A.A., P.A.D., G.A.R., Z.G.-O.), Department of Human Genetics (J.P.R., A.A., G.A.R., Z.G.-O.), Department of Neurology and Neurosurgery (P.A.D., G.A.R., Z.G.-O.), McGill University, Quebec, Canada; Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University, New York, NY; and Section on Molecular Neurogenetics (E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.

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October 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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September 2016

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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September 2016

KCC3 axonopathy: neuropathological features in the central and peripheral nervous system.

Mod Pathol 2016 09 27;29(9):962-76. Epub 2016 May 27.

Department of Neuroscience, Lewis Katz School of Medicine at Temple University, Philadelphia, PA, USA.

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September 2016

The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.

Neurobiol Aging 2016 07 6;43:180.e7-180.e13. Epub 2016 Apr 6.

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. Electronic address:

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July 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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April 2016

FET proteins regulate lifespan and neuronal integrity.

Sci Rep 2016 04 27;6:25159. Epub 2016 Apr 27.

CHUM Research Center, Montreal, H2X 3H8, Canada.

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April 2016

ALS: Recent Developments from Genetics Studies.

Curr Neurol Neurosci Rep 2016 Jun;16(6):59

Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.

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June 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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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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January 2016

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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September 2015

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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September 2015

Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family.

Neurogenetics 2015 Oct 11;16(4):315-8. Epub 2015 Aug 11.

Montreal Neurological Institute and Hospital, McGill University, 3801 University St., Room 636, Montreal, Quebec, Canada.

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October 2015

A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia.

JAMA Neurol 2015 Aug;72(8):942-3

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

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August 2015

Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease.

Autophagy 2015 ;11(9):1443-57

a The Department of Human Genetics ; McGill University ; Montreal , QC Canada.

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June 2016

Mutation burden of rare variants in schizophrenia candidate genes.

PLoS One 2015 3;10(6):e0128988. Epub 2015 Jun 3.

Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery, McGill University, Montréal, Canada.

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April 2016

Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population.

PLoS One 2015 26;10(5):e0128255. Epub 2015 May 26.

Montreal Neurological Institute and Hospital, McGill University, Montréal (Que), Canada; Department of Neurology and Neurosurgery, McGill University, Montréal (Que), Canada.

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April 2016

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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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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June 2015

No evidence for GADL1 variation as a bipolar disorder susceptibility factor in a Caucasian lithium-responsive cohort.

Am J Psychiatry 2015 Jan;172(1):94-5

From the McGill Group for Suicide Studies, Douglas Mental Health Institute, McGill University, Montreal; the Montreal Neurological Institute and Hospital, McGill University, Montreal; and the Department of Psychiatry, Dalhousie University, Halifax, Nova Scotia, Canada.

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January 2015

A novel nonsense mutation in SCN9A in a Moroccan child with congenital insensitivity to pain.

Pediatr Neurol 2014 Nov 12;51(5):741-4. Epub 2014 Jul 12.

Neurology and Neurosurgery Department, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute and Hospital, McGill University, Montréal, Quebec, Canada.

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November 2014

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

Hum Mol Genet 2015 Mar 24;24(5):1363-73. Epub 2014 Oct 24.

Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada H3A 2B4, Department of Neurology and Neurosurgery, McGill University, Department of Pathology and Cellular Biology, Université de Montréal,

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March 2015

Genetics of essential tremor: from phenotype to genes, insights from both human and mouse studies.

Prog Neurobiol 2014 Aug-Sep;119-120:1-19. Epub 2014 May 10.

Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery, McGill University, Montréal, QC H3A 2B4, Canada. Electronic address:

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March 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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December 2014

Molecular aspects of hereditary spastic paraplegia.

Exp Cell Res 2014 Jul 11;325(1):18-26. Epub 2014 Mar 11.

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

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July 2014

Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum.

Cerebellum Ataxias 2014 4;1. Epub 2014 Jul 4.

Faculty of Medicine of Laval University and the Department of Neurological Sciences of the Centre Hopitalier, Universitaire de Québec, 1401, 18th Street, Quebec, QC G1J 1Z4 Canada.

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September 2015

Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans.

PLoS One 2013 12;8(12):e83450. Epub 2013 Dec 12.

Centre de Recherche du Centre hospitalier de l'Université de Montréal (CRCHUM), Montréal, Québec, Canada ; Département de Pathologie et Biologie Cellulaire, Université de Montréal, Montréal, Québec, Canada ; Département de neuroscience, Université de Montréal, Montréal, Québec, Canada.

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September 2014

Comparative analysis of the expression profile of Wnk1 and Wnk1/Hsn2 splice variants in developing and adult mouse tissues.

PLoS One 2013 25;8(2):e57807. Epub 2013 Feb 25.

Center of Excellence in Neuroscience of the Université de Montréal-CENUM, Centre de Recherche du Centre Hospitalier de l'Université de Montréal-CRCHUM, University of Montreal, Montreal, Quebec, Canada.

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January 2014