Guy A. Rouleau

Publications

• Expanded ATXN3 Frameshifting Events Are Toxic in Drosophila and Mammalian Neuron Models
  Human Molecular Genetics. Feb, 2012  |   Pubmed ID: 22337953
• Identification of a Novel In-frame De Novo Mutation in SPTAN1 in Intellectual Disability and Pontocerebellar Atrophy
  European Journal of Human Genetics : EJHG. Jan, 2012  |   Pubmed ID: 22258530
• Novel FUS Deletion in a Patient With Juvenile Amyotrophic Lateral Sclerosis
  Archives of Neurology. Jan, 2012  |   Pubmed ID: 22248478
• Exome Sequencing Reveals SPG11 Mutations Causing Juvenile ALS
  Neurobiology of Aging. Apr, 2012  |   Pubmed ID: 22154821
• Voltage-gated Na+ Channel β1B: a Secreted Cell Adhesion Molecule Involved in Human Epilepsy
  The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. Oct, 2011  |   Pubmed ID: 21994374
• A Role for Ubiquilin 2 Mutations in Neurodegeneration
  Nature Reviews. Neurology. Nov, 2011  |   Pubmed ID: 21989241
• Amyotrophic Lateral Sclerosis: New Genes, New Models, and New Mechanisms
  F1000 Biology Reports. 2011  |   Pubmed ID: 21941597
• A Functional XPNPEP2 Promoter Haplotype Leads to Reduced Plasma Aminopeptidase P and Increased Risk of ACE Inhibitor-induced Angioedema
  Human Mutation. Nov, 2011  |   Pubmed ID: 21898657
• Glucocerebrosidase Mutations in a French-Canadian Parkinson's Disease Cohort
  The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. Sep, 2011  |   Pubmed ID: 21856586
• Migraine: Role of the TRESK Two-pore Potassium Channel
  The International Journal of Biochemistry & Cell Biology. Nov, 2011  |   Pubmed ID: 21855646
• Letter to the Editors: Comment on "Hereditary Sensory and Autonomic Neuropathy II Due to Novel Mutation in the HSN2 Gene in Mexican Families"
  Journal of Neurology. Aug, 2011  |   Pubmed ID: 21847616
• FUS and TARDBP but Not SOD1 Interact in Genetic Models of Amyotrophic Lateral Sclerosis
  PLoS Genetics. Aug, 2011  |   Pubmed ID: 21829392
• KIF1A, an Axonal Transporter of Synaptic Vesicles, is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2
  American Journal of Human Genetics. Aug, 2011  |   Pubmed ID: 21820098
• Early Influence of the Rs4675690 on the Neural Substrates of Sadness
  Journal of Affective Disorders. Dec, 2011  |   Pubmed ID: 21807415
• Genome-wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1
  PLoS Genetics. Jul, 2011  |   Pubmed ID: 21779176
• Pathological Hallmarks of Amyotrophic Lateral Sclerosis/frontotemporal Lobar Degeneration in Transgenic Mice Produced with TDP-43 Genomic Fragments
  Brain : a Journal of Neurology. Sep, 2011  |   Pubmed ID: 21752789
• Increased Exonic De Novo Mutation Rate in Individuals with Schizophrenia
  Nature Genetics. Sep, 2011  |   Pubmed ID: 21743468
• The Ongoing Dissection of the Genetic Architecture of Autistic Spectrum Disorder
  Molecular Autism. 2011  |   Pubmed ID: 21740537
• Restless Legs Syndrome-associated MEIS1 Risk Variant Influences Iron Homeostasis
  Annals of Neurology. Jul, 2011  |   Pubmed ID: 21710629
• Association of Long ATXN2 CAG Repeat Sizes with Increased Risk of Amyotrophic Lateral Sclerosis
  Archives of Neurology. Jun, 2011  |   Pubmed ID: 21670397
• Variation in Genome-wide Mutation Rates Within and Between Human Families
  Nature Genetics. Jul, 2011  |   Pubmed ID: 21666693
• Transit Defect of Potassium-chloride Co-transporter 3 is a Major Pathogenic Mechanism in Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
  The Journal of Biological Chemistry. Aug, 2011  |   Pubmed ID: 21628467
• The Case for Locus-specific Databases
  Nature Reviews. Genetics. Jun, 2011  |   Pubmed ID: 21540879
• SYN1 Loss-of-function Mutations in Autism and Partial Epilepsy Cause Impaired Synaptic Function
  Human Molecular Genetics. Jun, 2011  |   Pubmed ID: 21441247
• Comparison of Genome-wide Array Genomic Hybridization Platforms for the Detection of Copy Number Variants in Idiopathic Mental Retardation
  BMC Medical Genomics. 2011  |   Pubmed ID: 21439053
• Truncating Mutations in NRXN2 and NRXN1 in Autism Spectrum Disorders and Schizophrenia
  Human Genetics. Oct, 2011  |   Pubmed ID: 21424692
• No Effect on SOD1 Splicing by TARDP or FUS Mutations
  Archives of Neurology. Mar, 2011  |   Pubmed ID: 21403029
• A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing
  PLoS Genetics. Feb, 2011  |   Pubmed ID: 21383861
• Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability
  American Journal of Human Genetics. Mar, 2011  |   Pubmed ID: 21376300
• Intellectual Disability Without Epilepsy Associated with STXBP1 Disruption
  European Journal of Human Genetics : EJHG. May, 2011  |   Pubmed ID: 21364700
• Sensory and Motor Neuronopathy in a Patient with the A382P TDP-43 Mutation
  Orphanet Journal of Rare Diseases. 2011  |   Pubmed ID: 21294910
• Where Are the Missing Pieces of the Schizophrenia Genetics Puzzle?
  Current Opinion in Genetics & Development. Jun, 2011  |   Pubmed ID: 21277191
• LINGO1 Variants in the French-Canadian Population
  PloS One. 2011  |   Pubmed ID: 21264305
• Identification of Novel FUS Mutations in Sporadic Cases of Amyotrophic Lateral Sclerosis
  Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. Mar, 2011  |   Pubmed ID: 21261515
• TAR DNA-binding Protein 43 (TDP-43) Regulates Stress Granule Dynamics Via Differential Regulation of G3BP and TIA-1
  Human Molecular Genetics. Apr, 2011  |   Pubmed ID: 21257637
• De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism
  Biological Psychiatry. May, 2011  |   Pubmed ID: 21237447
• Resequencing of 29 Candidate Genes in Patients with Familial and Sporadic Amyotrophic Lateral Sclerosis
  Archives of Neurology. May, 2011  |   Pubmed ID: 21220648
• Common Variants in P2RY11 Are Associated with Narcolepsy
  Nature Genetics. Jan, 2011  |   Pubmed ID: 21170044
• Identification of a FUS Splicing Mutation in a Large Family with Amyotrophic Lateral Sclerosis
  Journal of Human Genetics. Mar, 2011  |   Pubmed ID: 21160488
• Cellular Expression of the K+-Cl- Cotransporter KCC3 in the Central Nervous System of Mouse
  Brain Research. Feb, 2011  |   Pubmed ID: 21147077
• A Mutation in the RNF170 Gene Causes Autosomal Dominant Sensory Ataxia
  Brain : a Journal of Neurology. Feb, 2011  |   Pubmed ID: 21115467
• Analysis of OPTN As a Causative Gene for Amyotrophic Lateral Sclerosis
  Neurobiology of Aging. Mar, 2011  |   Pubmed ID: 21074290
• Restless Legs Syndrome Mothers and Attention-deficit/hyperactivity Disorder Children: What Happened Between Them?
  Sleep Medicine. Jan, 2011  |   Pubmed ID: 20851048
• Hypomorphic Temperature-sensitive Alleles of NSDHL Cause CK Syndrome
  American Journal of Human Genetics. Dec, 2010  |   Pubmed ID: 21129721
• De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment
  American Journal of Human Genetics. Nov, 2010  |   Pubmed ID: 20950788
• A Dominant-negative Mutation in the TRESK Potassium Channel is Linked to Familial Migraine with Aura
  Nature Medicine. Oct, 2010  |   Pubmed ID: 20871611
• Early Impact of 5-HTTLPR Polymorphism on the Neural Correlates of Sadness
  Neuroscience Letters. Nov, 2010  |   Pubmed ID: 20851164
• Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability
  Science Translational Medicine. Sep, 2010  |   Pubmed ID: 20844286
• Chromosome 9p21 in Amyotrophic Lateral Sclerosis: the Plot Thickens
  Lancet Neurology. Oct, 2010  |   Pubmed ID: 20801719
• Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts
  American Journal of Human Genetics. Sep, 2010  |   Pubmed ID: 20797689
• De Novo Truncating Mutation in Kinesin 17 Associated with Schizophrenia
  Biological Psychiatry. Oct, 2010  |   Pubmed ID: 20646681
• Cognitive Impairment in ARCA-1, a Newly Discovered Pure Cerebellar Ataxia Syndrome
  Cerebellum (London, England). Sep, 2010  |   Pubmed ID: 20559786
• Integrative Gene-tissue Microarray-based Approach for Identification of Human Disease Biomarkers: Application to Amyotrophic Lateral Sclerosis
  Human Molecular Genetics. Aug, 2010  |   Pubmed ID: 20530642
• Association of NPAS3 Exonic Variation with Schizophrenia
  Schizophrenia Research. Jul, 2010  |   Pubmed ID: 20466522
• Four Familial ALS Pedigrees Discordant for Two SOD1 Mutations: Are All SOD1 Mutations Pathogenic?
  Journal of Neurology, Neurosurgery, and Psychiatry. May, 2010  |   Pubmed ID: 20460594
• Family Study of Restless Legs Syndrome in Quebec, Canada: Clinical Characterization of 671 Familial Cases
  Archives of Neurology. May, 2010  |   Pubmed ID: 20457962
• Mutations in DCC Cause Congenital Mirror Movements
  Science (New York, N.Y.). Apr, 2010  |   Pubmed ID: 20431009
• Analysis of the UNC13A Gene As a Risk Factor for Sporadic Amyotrophic Lateral Sclerosis
  Archives of Neurology. Apr, 2010  |   Pubmed ID: 20385924
• De Novo Mutations in the Gene Encoding the Synaptic Scaffolding Protein SHANK3 in Patients Ascertained for Schizophrenia
  Proceedings of the National Academy of Sciences of the United States of America. Apr, 2010  |   Pubmed ID: 20385823
• Cross-talk Between Canonical Wnt Signaling and the Sirtuin-FoxO Longevity Pathway to Protect Against Muscular Pathology Induced by Mutant PABPN1 Expression in C. Elegans
  Neurobiology of Disease. Jun, 2010  |   Pubmed ID: 20227501
• [De Novo Mutations in SYNGAP1 Associated with Non-syndromic Mental Retardation]
  Médecine Sciences : M/S. Feb, 2010  |   Pubmed ID: 20188038
• Genome-wide TDT Analysis in French-Canadian Families with Tourette Syndrome
  The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. Jan, 2010  |   Pubmed ID: 20169783
• Characterization of Sirtuin Inhibitors in Nematodes Expressing a Muscular Dystrophy Protein Reveals Muscle Cell and Behavioral Protection by Specific Sirtinol Analogues
  Journal of Medicinal Chemistry. Feb, 2010  |   Pubmed ID: 20041717
• Analysis of DPP6 and FGGY As Candidate Genes for Amyotrophic Lateral Sclerosis
  Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. Aug, 2010  |   Pubmed ID: 20001489
• Gain and Loss of Function of ALS-related Mutations of TARDBP (TDP-43) Cause Motor Deficits in Vivo
  Human Molecular Genetics. Feb, 2010  |   Pubmed ID: 19959528
• Chromogranin B P413L Variant As Risk Factor and Modifier of Disease Onset for Amyotrophic Lateral Sclerosis
  Proceedings of the National Academy of Sciences of the United States of America. Dec, 2009  |   Pubmed ID: 20007371
• Detection of Pathogenic Copy Number Variants in Children with Idiopathic Intellectual Disability Using 500 K SNP Array Genomic Hybridization
  BMC Genomics. 2009  |   Pubmed ID: 19917086
• A Mutation That Creates a Pseudoexon in SOD1 Causes Familial ALS
  Annals of Human Genetics. Nov, 2009  |   Pubmed ID: 19847927
• Genetics of Motor Neuron Disorders: New Insights into Pathogenic Mechanisms
  Nature Reviews. Genetics. Nov, 2009  |   Pubmed ID: 19823194
• Association of Intronic Variants of the BTBD9 Gene with Tourette Syndrome
  Archives of Neurology. Oct, 2009  |   Pubmed ID: 19822783
• Global Brain Gene Expression Analysis Links Glutamatergic and GABAergic Alterations to Suicide and Major Depression
  PloS One. 2009  |   Pubmed ID: 19668376
• De Novo STXBP1 Mutations in Mental Retardation and Nonsyndromic Epilepsy
  Annals of Neurology. Jun, 2009  |   Pubmed ID: 19557857
• A Novel TYMP Mutation in a French Canadian Patient with Mitochondrial Neurogastrointestinal Encephalomyopathy
  Clinical Neurology and Neurosurgery. Oct, 2009  |   Pubmed ID: 19523753
• No Association Between SRGAP3/MEGAP Haploinsufficiency and Mental Retardation
  Archives of Neurology. May, 2009  |   Pubmed ID: 19433673
• Narcolepsy is Strongly Associated with the T-cell Receptor Alpha Locus
  Nature Genetics. Jun, 2009  |   Pubmed ID: 19412176
• [Mutations in the HSN2 Exon of WNK1 Cause Hereditary Sensory Neuropathy Type II]
  Médecine Sciences : M/S. Mar, 2009  |   Pubmed ID: 19361385
• Recent Advances in the Genetics of Amyotrophic Lateral Sclerosis
  Current Neurology and Neuroscience Reports. May, 2009  |   Pubmed ID: 19348708
• No TARDBP Mutations in a French Canadian Population of Patients with Parkinson Disease
  Archives of Neurology. Feb, 2009  |   Pubmed ID: 19204172
• Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation
  The New England Journal of Medicine. Feb, 2009  |   Pubmed ID: 19196676
• Genetic Analysis of Factor XII and Bradykinin Catabolic Enzymes in a Family with Estrogen-dependent Inherited Angioedema
  The Journal of Allergy and Clinical Immunology. Apr, 2009  |   Pubmed ID: 19178938
• MEIS1 Intronic Risk Haplotype Associated with Restless Legs Syndrome Affects Its MRNA and Protein Expression Levels
  Human Molecular Genetics. Mar, 2009  |   Pubmed ID: 19126776
• The Proportion of Mutations Predicted to Have a Deleterious Effect Differs Between Gain and Loss of Function Genes in Neurodegenerative Disease
  Human Mutation. Mar, 2009  |   Pubmed ID: 19105188
• Autosomal-dominant Locus for Restless Legs Syndrome in French-Canadians on Chromosome 16p12.1
  Movement Disorders : Official Journal of the Movement Disorder Society. Jan, 2009  |   Pubmed ID: 18946881
• Genetic Predictors of Depressive Symptoms in Cardiac Patients
  American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. Apr, 2009  |   Pubmed ID: 18618671
• Novel De Novo SHANK3 Mutation in Autistic Patients
  American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. Apr, 2009  |   Pubmed ID: 18615476
• A Novel Duplication Confirms the Involvement of 5q23.2 in Autosomal Dominant Leukodystrophy
  Archives of Neurology. Nov, 2008  |   Pubmed ID: 19001169
• Mutations in the Calcium-related Gene IL1RAPL1 Are Associated with Autism
  Human Molecular Genetics. Dec, 2008  |   Pubmed ID: 18801879
• A Novel Mutation in a Large French-Canadian Family with LGMD1B
  The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. Jul, 2008  |   Pubmed ID: 18714801
• 50bp Deletion in the Promoter for Superoxide Dismutase 1 (SOD1) Reduces SOD1 Expression in Vitro and May Correlate with Increased Age of Onset of Sporadic Amyotrophic Lateral Sclerosis
  Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. Aug, 2008  |   Pubmed ID: 18608091
• HMSN/ACC Truncation Mutations Disrupt Brain-type Creatine Kinase-dependant Activation of K+/Cl- Co-transporter 3
  Human Molecular Genetics. Sep, 2008  |   Pubmed ID: 18566107
• Als2 MRNA Splicing Variants Detected in KO Mice Rescue Severe Motor Dysfunction Phenotype in Als2 Knock-down Zebrafish
  Human Molecular Genetics. Sep, 2008  |   Pubmed ID: 18558633
• Mutations in the Nervous System--specific HSN2 Exon of WNK1 Cause Hereditary Sensory Neuropathy Type II
  The Journal of Clinical Investigation. Jul, 2008  |   Pubmed ID: 18521183
• A Significant Increase in Breathing Amplitude Precedes Sleep Bruxism
  Chest. Aug, 2008  |   Pubmed ID: 18490400
• Sirtuin Inhibition Protects from the Polyalanine Muscular Dystrophy Protein PABPN1
  Human Molecular Genetics. Jul, 2008  |   Pubmed ID: 18397876
• TARDBP Mutations in Individuals with Sporadic and Familial Amyotrophic Lateral Sclerosis
  Nature Genetics. May, 2008  |   Pubmed ID: 18372902
• PABPN1 Polyalanine Tract Deletion and Long Expansions Modify Its Aggregation Pattern and Expression
  Experimental Cell Research. May, 2008  |   Pubmed ID: 18367172
• Autosomal Dominant Sensory Ataxia: a Neuroaxonal Dystrophy
  Acta Neuropathologica. Sep, 2008  |   Pubmed ID: 18347805
• A Locus for Primary Lateral Sclerosis on Chromosome 4ptel-4p16.1
  Archives of Neurology. Mar, 2008  |   Pubmed ID: 18332252
• A Novel Locus for Idiopathic Generalized Epilepsy in French-Canadian Families Maps to 10p11
  American Journal of Medical Genetics. Part A. Mar, 2008  |   Pubmed ID: 18241056
• Genetics of Familial Amyotrophic Lateral Sclerosis
  Neurology. Jan, 2008  |   Pubmed ID: 18180444
• ALS Predisposition Modifiers: Knock NOX, Who's There? SOD1 Mice Still Are
  European Journal of Human Genetics : EJHG. Feb, 2008  |   Pubmed ID: 18043718
• No Association Between the DRD3 Ser9Gly Polymorphism and Schizophrenia
  Schizophrenia Research. Jan, 2008  |   Pubmed ID: 17698325
• Genetic Association Studies of Neurotensin Gene and Restless Legs Syndrome in French Canadians
  Sleep Medicine. Mar, 2008  |   Pubmed ID: 17644423
• Oxidized/misfolded Superoxide Dismutase-1: the Cause of All Amyotrophic Lateral Sclerosis?
  Annals of Neurology. Dec, 2007  |   Pubmed ID: 18074357
• [The Medical Research at Sainte-Justine: to Grow Healthy]
  Médecine Sciences : M/S. Nov, 2007  |   Pubmed ID: 18021696
• Asian Origin for the Worldwide-spread Mutational Event in Machado-Joseph Disease
  Archives of Neurology. Oct, 2007  |   Pubmed ID: 17923634
• Transmission Disequilibrium Study of an Oligodendrocyte and Myelin Glycoprotein Gene Allele in 431 Families with an Autistic Proband
  Neuroscience Research. Dec, 2007  |   Pubmed ID: 17897745
• LRRK2 is Not a Significant Cause of Parkinson's Disease in French-Canadians
  The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. Aug, 2007  |   Pubmed ID: 17803032
• SPG4 Founder Effect in French Canadians with Hereditary Spastic Paraplegia
  The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. May, 2007  |   Pubmed ID: 17598600
• A Stop Codon Mutation in SCN9A Causes Lack of Pain Sensation
  Human Molecular Genetics. Sep, 2007  |   Pubmed ID: 17597096
• Molecular Genetic Studies of DMT1 on 12q in French-Canadian Restless Legs Syndrome Patients and Families
  American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. Oct, 2007  |   Pubmed ID: 17510944
• Clinical and Genetic Study of Autosomal Recessive Cerebellar Ataxia Type 1
  Annals of Neurology. Jul, 2007  |   Pubmed ID: 17503513
• Characterization of a Novel SPG3A Deletion in a French-Canadian Family
  Annals of Neurology. Jun, 2007  |   Pubmed ID: 17427918
• Soluble Expanded PABPN1 Promotes Cell Death in Oculopharyngeal Muscular Dystrophy
  Neurobiology of Disease. Jun, 2007  |   Pubmed ID: 17418585
• Autosomal Dominant Primary Lateral Sclerosis
  Neurology. Apr, 2007  |   Pubmed ID: 17404201
• Additive Effects of Obesity and TCF7L2 Variants on Risk for Type 2 Diabetes Among Cardiac Patients
  Diabetes Care. Jun, 2007  |   Pubmed ID: 17351281
• [Mutations in SYNE-1 Lead to a Newly Discovered Form of Autosomal Recessive Cerebellar Ataxia]
  Médecine Sciences : M/S. Mar, 2007  |   Pubmed ID: 17349286
• Linkage to a Known Gene but No Mutation Identified: Comprehensive Reanalysis of SPG4 HSP Pedigrees Reveals Large Deletions As the Sole Cause
  Human Mutation. Jul, 2007  |   Pubmed ID: 17345589
• Three Families with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia with Evidence of Linkage to Chromosome 9p
  Archives of Neurology. Feb, 2007  |   Pubmed ID: 17296840
• Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia
  American Journal of Human Genetics. Jan, 2007  |   Pubmed ID: 17160902
• Mutations in SYNE1 Lead to a Newly Discovered Form of Autosomal Recessive Cerebellar Ataxia
  Nature Genetics. Jan, 2007  |   Pubmed ID: 17159980
• Oculopharyngeal Muscular Dystrophy: Recent Advances in the Understanding of the Molecular Pathogenic Mechanisms and Treatment Strategies
  Biochimica Et Biophysica Acta. Feb, 2007  |   Pubmed ID: 17110089
• Purification of the NF2 Tumor Suppressor Protein from Human Erythrocytes
  The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. Nov, 2006  |   Pubmed ID: 17168165
• The Dynamism of PABPN1 Nuclear Inclusions During the Cell Cycle
  Neurobiology of Disease. Sep, 2006  |   Pubmed ID: 16860991
• Hereditary Ataxia, Spastic Paraparesis and Neuropathy in the French-Canadian Population
  The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. May, 2006  |   Pubmed ID: 16736723
• Common Genetic Vulnerability to Depressive Symptoms and Coronary Artery Disease: a Review and Development of Candidate Genes Related to Inflammation and Serotonin
  Psychosomatic Medicine. Mar-Apr, 2006  |   Pubmed ID: 16554382
• Human Monogenic Disorders - a Source of Novel Drug Targets
  Nature Reviews. Genetics. Apr, 2006  |   Pubmed ID: 16534513
• Genetics of Familial and Sporadic Amyotrophic Lateral Sclerosis
  Biochimica Et Biophysica Acta. Nov-Dec, 2006  |   Pubmed ID: 16503123
• Mutations in NALP7 Cause Recurrent Hydatidiform Moles and Reproductive Wastage in Humans
  Nature Genetics. Mar, 2006  |   Pubmed ID: 16462743
• Monogenic Epilepsies in Humans: Molecular Mechanisms and Relevance for the Study of Intractable Epilepsy
  Advances in Neurology. 2006  |   Pubmed ID: 16383149
• Role of the Neurofibromatosis Type 2 Gene in the Development of Tumors of the Nervous System
  Neurosurgical Focus. Nov, 2005  |   Pubmed ID: 16398470
• Identification of Genetic Aberrations on Chromosome 22 Outside the NF2 Locus in Schwannomatosis and Neurofibromatosis Type 2
  Human Mutation. Dec, 2005  |   Pubmed ID: 16287142
• Sacred Disease Secrets Revealed: the Genetics of Human Epilepsy
  Human Molecular Genetics. Oct, 2005  |   Pubmed ID: 16278970
• Clinical Stringency Greatly Improves Mutation Detection in Rett Syndrome
  The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. Aug, 2005  |   Pubmed ID: 16225173
• A Variant in XPNPEP2 is Associated with Angioedema Induced by Angiotensin I-converting Enzyme Inhibitors
  American Journal of Human Genetics. Oct, 2005  |   Pubmed ID: 16175507
• Acute Adverse Reactions Associated with Angiotensin-converting Enzyme Inhibitors: Genetic Factors and Therapeutic Implications
  Expert Opinion on Pharmacotherapy. Sep, 2005  |   Pubmed ID: 16144506
• Cytoplasmic Targeting of Mutant Poly(A)-binding Protein Nuclear 1 Suppresses Protein Aggregation and Toxicity in Oculopharyngeal Muscular Dystrophy
  Traffic (Copenhagen, Denmark). Sep, 2005  |   Pubmed ID: 16101680
• Ribosomal Frameshifting on MJD-1 Transcripts with Long CAG Tracts
  Human Molecular Genetics. Sep, 2005  |   Pubmed ID: 16087686
• Sacred Disease Secrets Revealed: the Genetics of Human Epilepsy
  Human Molecular Genetics. Sep, 2005  |   Pubmed ID: 16049035
• Molecular Analysis of the A322D Mutation in the GABA Receptor Alpha-subunit Causing Juvenile Myoclonic Epilepsy
  The European Journal of Neuroscience. Jul, 2005  |   Pubmed ID: 16029191
• Increased Prevalence of Schizophrenia Spectrum Disorders in Relatives of Neuroleptic-nonresponsive Schizophrenic Patients
  Schizophrenia Research. Sep, 2005  |   Pubmed ID: 16005383
• Inherited Occipital Hypoplasia/syringomyelia in the Cavalier King Charles Spaniel: Experiences in Setting Up a Worldwide DNA Collection
  The Journal of Heredity. 2005  |   Pubmed ID: 15958797
• Investigating Responders to Lithium Prophylaxis As a Strategy for Mapping Susceptibility Genes for Bipolar Disorder
  Progress in Neuro-psychopharmacology & Biological Psychiatry. Jul, 2005  |   Pubmed ID: 15946781
• Restless Legs Syndrome: Confirmation of Linkage to Chromosome 12q, Genetic Heterogeneity, and Evidence of Complexity
  Archives of Neurology. Apr, 2005  |   Pubmed ID: 15824258
• PABPN1 Overexpression Leads to Upregulation of Genes Encoding Nuclear Proteins That Are Sequestered in Oculopharyngeal Muscular Dystrophy Nuclear Inclusions
  Neurobiology of Disease. Apr, 2005  |   Pubmed ID: 15755682
• Transgenic Expression of an Expanded (GCG)13 Repeat PABPN1 Leads to Weakness and Coordination Defects in Mice
  Neurobiology of Disease. Apr, 2005  |   Pubmed ID: 15755680
• CAA Insertion Polymorphism in the 3'UTR of Nogo Gene on 2p14 is Not Associated with Schizophrenia
  Brain Research. Molecular Brain Research. Jan, 2005  |   Pubmed ID: 15661375
• Autosomal Dominant Juvenile Myoclonic Epilepsy and GABRA1
  Advances in Neurology. 2005  |   Pubmed ID: 15508928
• NLGN3/NLGN4 Gene Mutations Are Not Responsible for Autism in the Quebec Population
  American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. Jan, 2005  |   Pubmed ID: 15389766
• A Mutation in the HSN2 Gene Causes Sensory Neuropathy Type II in a Lebanese Family
  Annals of Neurology. Oct, 2004  |   Pubmed ID: 15455397
• A Novel Locus for Pure Recessive Hereditary Spastic Paraplegia Maps to 10q22.1-10q24.1
  Annals of Neurology. Oct, 2004  |   Pubmed ID: 15455396
• TAU Mutations Are Not a Predominant Cause of Frontotemporal Dementia in Canadian Patients
  The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. Aug, 2004  |   Pubmed ID: 15376481
• A Frameshift Deletion in Peripherin Gene Associated with Amyotrophic Lateral Sclerosis
  The Journal of Biological Chemistry. Oct, 2004  |   Pubmed ID: 15322088
• The 14q Restless Legs Syndrome Locus in the French Canadian Population
  Annals of Neurology. Jun, 2004  |   Pubmed ID: 15174026
• CCM2 Mutations Account for 13% of Cases in a Large Collection of Kindreds with Hereditary Cavernous Malformations
  Annals of Neurology. May, 2004  |   Pubmed ID: 15122722
• Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II Through the Study of Canadian Genetic Isolates
  American Journal of Human Genetics. May, 2004  |   Pubmed ID: 15060842
• Mutational Analysis of Neurotensin in Familial Restless Legs Syndrome
  Movement Disorders : Official Journal of the Movement Disorder Society. Jan, 2004  |   Pubmed ID: 14743366
• Identification of Lithium-regulated Genes in Cultured Lymphoblasts of Lithium Responsive Subjects with Bipolar Disorder
  Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. Apr, 2004  |   Pubmed ID: 14735134
• Analysis of CAG Repeat Expansions in Restless Legs Syndrome
  Sleep. Dec, 2003  |   Pubmed ID: 14746390
• Mutation Screening of the ALS2 Gene in Sporadic and Familial Amyotrophic Lateral Sclerosis
  Archives of Neurology. Dec, 2003  |   Pubmed ID: 14676054
• Absence of Mutations in the Hypoxia Response Element of VEGF in ALS
  Muscle & Nerve. Dec, 2003  |   Pubmed ID: 14639597
• Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-binding Domain Cause Type 2 Cerebral Cavernous Malformations
  American Journal of Human Genetics. Dec, 2003  |   Pubmed ID: 14624391
• Polymorphism, Shared Functions and Convergent Evolution of Genes with Sequences Coding for Polyalanine Domains
  Human Molecular Genetics. Nov, 2003  |   Pubmed ID: 14519685
• Novel RPGR Mutations with Distinct Retinitis Pigmentosa Phenotypes in French-Canadian Families
  American Journal of Ophthalmology. Oct, 2003  |   Pubmed ID: 14516808
• Mutations in NHLRC1 Cause Progressive Myoclonus Epilepsy
  Nature Genetics. Oct, 2003  |   Pubmed ID: 12958597
• HnRNP A1 and A/B Interaction with PABPN1 in Oculopharyngeal Muscular Dystrophy
  The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. Aug, 2003  |   Pubmed ID: 12945950
• Involvement of the Ubiquitin-proteasome Pathway and Molecular Chaperones in Oculopharyngeal Muscular Dystrophy
  Human Molecular Genetics. Oct, 2003  |   Pubmed ID: 12944420
• Mutational Analysis of 206 Families with Cavernous Malformations
  Journal of Neurosurgery. Jul, 2003  |   Pubmed ID: 12854741
• Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
  Annals of Neurology. Jul, 2003  |   Pubmed ID: 12838516
• Molecular Cloning and Characterization of Human RAI1, a Gene Associated with Schizophrenia
  Genomics. Aug, 2003  |   Pubmed ID: 12837267
• [Severe Neuropathy with Agenesis of the Corpus Callosum]
  Médecine Sciences : M/S. Apr, 2003  |   Pubmed ID: 12836214
• Genome Scan Meta-analysis of Schizophrenia and Bipolar Disorder, Part III: Bipolar Disorder
  American Journal of Human Genetics. Jul, 2003  |   Pubmed ID: 12802785
• Linkage to the CCM2 Locus and Genetic Heterogeneity in Familial Cerebral Cavernous Malformation
  The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. May, 2003  |   Pubmed ID: 12774951
• NF2 Tumor Suppressor Gene: a Comprehensive and Efficient Detection of Somatic Mutations by Denaturing HPLC and Microarray-CGH
  Neuromolecular Medicine. 2003  |   Pubmed ID: 12665675
• Mutation Screening of FOXP2 in Individuals Diagnosed with Autistic Disorder
  American Journal of Medical Genetics. Part A. Apr, 2003  |   Pubmed ID: 12655497
• Progress in Understanding the Pathogenesis of Oculopharyngeal Muscular Dystrophy
  The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. Feb, 2003  |   Pubmed ID: 12619777
• Functional Characterization of the D188V Mutation in Neuronal Voltage-gated Sodium Channel Causing Generalized Epilepsy with Febrile Seizures Plus (GEFS)
  Epilepsy Research. Feb, 2003  |   Pubmed ID: 12576172
• Dopamine Beta-hydroxylase (DBH) Gene and Schizophrenia Phenotypic Variability: a Genetic Association Study
  American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. Feb, 2003  |   Pubmed ID: 12555232
• An ALS2 Gene Mutation Causes Hereditary Spastic Paraplegia in a Pakistani Kindred
  Annals of Neurology. Jan, 2003  |   Pubmed ID: 12509863
• The K-Cl Cotransporter KCC3 is Mutant in a Severe Peripheral Neuropathy Associated with Agenesis of the Corpus Callosum
  Nature Genetics. Nov, 2002  |   Pubmed ID: 12368912
• Fine Mapping the Candidate Region for Peripheral Neuropathy with or Without Agenesis of the Corpus Callosum in the French Canadian Population
  European Journal of Human Genetics : EJHG. Jul, 2002  |   Pubmed ID: 12107814
• Mutation of GABRA1 in an Autosomal Dominant Form of Juvenile Myoclonic Epilepsy
  Nature Genetics. Jun, 2002  |   Pubmed ID: 11992121
• Krit1 Missense Mutations Lead to Splicing Errors in Cerebral Cavernous Malformation
  American Journal of Human Genetics. Jun, 2002  |   Pubmed ID: 11941540
• Familial Amyotrophic Lateral Sclerosis
  Muscle & Nerve. Feb, 2002  |   Pubmed ID: 11870681
• Spectrum of SPG4 Mutations in a Large Collection of North American Families with Hereditary Spastic Paraplegia
  Archives of Neurology. Feb, 2002  |   Pubmed ID: 11843700
• Neuropsychological Impairments in Neuroleptic-responder Vs. -nonresponder Schizophrenic Patients and Healthy Volunteers
  Schizophrenia Research. Jan, 2002  |   Pubmed ID: 11738536
• A Novel Locus for Familial Amyotrophic Lateral Sclerosis, on Chromosome 18q
  American Journal of Human Genetics. Jan, 2002  |   Pubmed ID: 11706389