Patrick Dion

Patrick Dion

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Patrick Dion

Publications by authors named "Patrick Dion"

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Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes.

Nat Commun 2019 Oct 1;10(1):4450. Epub 2019 Oct 1.

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

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http://dx.doi.org/10.1038/s41467-019-12450-9DOI Listing
October 2019

Genetic architecture and adaptations of Nunavik Inuit.

Proc Natl Acad Sci U S A 2019 Aug 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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http://dx.doi.org/10.1073/pnas.1810388116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6689950PMC
August 2019

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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http://dx.doi.org/10.3389/fneur.2019.00935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736557PMC
August 2019

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

Parkinsonism Relat Disord 2019 Jul 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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http://dx.doi.org/10.1016/j.parkreldis.2019.05.002DOI Listing
July 2019

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

Parkinsonism Relat Disord 2019 Apr 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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http://dx.doi.org/10.1016/j.parkreldis.2018.10.022DOI Listing
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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http://dx.doi.org/10.1016/j.omtn.2019.02.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6403420PMC
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 Apr 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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http://dx.doi.org/10.1186/s40246-019-0203-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469102PMC
April 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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http://dx.doi.org/10.1212/NXG.0000000000000317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454309PMC
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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http://dx.doi.org/10.1212/NXG.0000000000000296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305992PMC
December 2018

Valproic acid is protective in cellular and worm models of oculopharyngeal muscular dystrophy.

Neurology 2018 08 13;91(6):e551-e561. Epub 2018 Jul 13.

From the Montreal Neurological Institute and Hospital (A.A.-B., P.D., G.R.), Ingram School of Nursing, Faculty of Medicine (S.R.), and Department of Neurology and Neurosurgery (G.R.), McGill University, Montreal; CHUM Research Center (A.P.), Montreal; Department of Neuroscience (A.P.), and Ophthalmology Research Hôpital Maisonneuve Rosemont, Laboratoire de Isabelle Brunette (J.L.), University of Montreal; Neuromuscular Group (B.B.), Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada; and Brain C-lab (C.N.), Institute of Biology Paris-Seine, CNRS UMR 8256 Biology of Adaptation & Aging, University Pierre and Marie Curie, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000005942DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105050PMC
August 2018

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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http://dx.doi.org/10.1016/j.jns.2018.05.003DOI Listing
July 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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http://dx.doi.org/10.1016/j.neurobiolaging.2018.01.001DOI Listing
June 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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http://dx.doi.org/10.1007/s12031-018-1031-4DOI Listing
March 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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http://dx.doi.org/10.1161/STROKEAHA.117.018152DOI Listing
March 2018

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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http://dx.doi.org/10.1016/j.nbd.2017.06.013DOI Listing
October 2017

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

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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http://dx.doi.org/10.1161/CIRCGENETICS.116.001618DOI Listing
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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http://dx.doi.org/10.1016/j.neurobiolaging.2017.01.005DOI Listing
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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http://dx.doi.org/10.1016/j.sleep.2016.10.012DOI Listing
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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http://dx.doi.org/10.1212/NXG.0000000000000122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5141523PMC
February 2017

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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http://dx.doi.org/10.1002/mds.26810DOI Listing
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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http://dx.doi.org/10.1016/j.ejmg.2016.10.003DOI Listing
November 2016

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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http://dx.doi.org/10.1016/j.ajhg.2016.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097946PMC
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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http://dx.doi.org/10.1212/NXG.0000000000000104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5017539PMC
October 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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http://dx.doi.org/10.1038/modpathol.2016.90DOI Listing
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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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

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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http://dx.doi.org/10.1016/j.neurobiolaging.2016.03.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4892956PMC
July 2016

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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http://dx.doi.org/10.1080/15548627.2015.1067364DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4590678PMC
June 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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http://dx.doi.org/10.1007/s11910-016-0658-1DOI Listing
June 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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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0128255PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444093PMC
April 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

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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http://dx.doi.org/10.1038/srep25159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4846834PMC
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

Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia.

Front Cell Neurosci 2015 12;9:386. Epub 2015 Oct 12.

Department of Neurosurgery, Boston Children's Hospital and Harvard Medical School Boston, MA, USA ; Manton Center for Orphan Disease Research, Boston Children's Hospital Boston, MA, USA.

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http://dx.doi.org/10.3389/fncel.2015.00386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4600830PMC
November 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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https://www.rareconnect.org/uploads/documents/novel-sil1-mut
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http://link.springer.com/10.1007/s10048-015-0455-z
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http://dx.doi.org/10.1007/s10048-015-0455-zDOI Listing
October 2015

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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http://dx.doi.org/10.1186/2053-8871-1-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4552392PMC
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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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

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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http://dx.doi.org/10.1001/jamaneurol.2015.0888DOI Listing
August 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

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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http://dx.doi.org/10.1016/j.pneurobio.2014.05.001DOI Listing
March 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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http://dx.doi.org/10.1176/appi.ajp.2014.14070855DOI Listing
January 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

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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http://dx.doi.org/10.1016/j.pediatrneurol.2014.06.009DOI Listing
November 2014

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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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0083450PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3861484PMC
September 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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http://dx.doi.org/10.1016/j.yexcr.2014.02.021DOI Listing
July 2014

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.

Am J Hum Genet 2014 Feb 2;94(2):268-77. Epub 2014 Jan 2.

Université Pierre and Marie Curie - Paris VI, Unité Mixte de Recherche S975, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France; Institut National de la Santé et de la Recherche Médicale, Unité 975, 75013 Paris, France; Centre National de la Recherche Scientifique, Unité Mixte de Recherche 7225, 75013 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928657PMC
February 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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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0057807PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581481PMC
January 2014

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.

Eur J Hum Genet 2013 Jul 21;21(7):749-56. Epub 2012 Nov 21.

Department of Medicine, Centre of Excellence in Neuroscience of Université de Montréal, CRCHUM Notre-Dame Hospital, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1038/ejhg.2012.243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722945PMC
July 2013

Investigation of C9orf72 repeat expansions in Parkinson's disease.

Neurobiol Aging 2013 Jun 27;34(6):1710.e7-9. Epub 2012 Dec 27.

Centre of Excellence in Neuroscience of Université de Montréal (CENUM), CHUM Research Center and the Department of Medicine, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.11.025DOI Listing
June 2013

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.

Neurobiol Aging 2013 Apr 10;34(4):1311.e1-2. Epub 2012 Oct 10.

Centre of Excellence in Neuroscience of Université de Montréal, CHUM Research Center and the Department of Medicine, Université de Montréal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.09.001DOI Listing
April 2013

Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia.

Eur J Hum Genet 2013 Feb 27;21(2):237-9. Epub 2012 Jun 27.

Centre of Excellence in Neurosciences of Université de Montréal, CHUM Research Center, Montreal, Québec, Canada.

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http://dx.doi.org/10.1038/ejhg.2012.135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548267PMC
February 2013

C9orf72 repeat expansions are a rare genetic cause of parkinsonism.

Brain 2013 Feb;136(Pt 2):385-91

Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, UMR-S975; Inserm, U975, CNRS, UMR 7225, 75013 Paris, France

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http://dx.doi.org/10.1093/brain/aws357DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3984141PMC
February 2013

The FUS about arginine methylation in ALS and FTLD.

EMBO J 2012 Nov 19;31(22):4249-51. Epub 2012 Oct 19.

Centre Hospitalier de l'Université de Montréal Research Center, Université de Montréal, Montréal, Quebec, Canada.

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http://dx.doi.org/10.1038/emboj.2012.291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3501219PMC
November 2012

VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.

Am J Hum Genet 2012 Sep;91(3):548-52

The Centre of Excellence in Neurosciences, Centre Hospitalier de l'Université de Montréal Research Center, Université de Montréal, Montréal, QC H2L 2W5, Canada.

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http://dx.doi.org/10.1016/j.ajhg.2012.07.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511983PMC
September 2012