Guy Rouleau

Publications

• Mutation Burden of Rare Variants in Schizophrenia Candidate Genes
  PloS One. 2015  |   Pubmed ID: 26039597
• Alteration of Ornithine Metabolism Leads to Dominant and Recessive Hereditary Spastic Paraplegia
  Brain : a Journal of Neurology. May, 2015  |   Pubmed ID: 26026163
• Increased Missense Mutation Burden of Fatty Acid Metabolism Related Genes in Nunavik Inuit Population
  PloS One. 2015  |   Pubmed ID: 26010953
• LRRK2 Mutations in Parkinson Disease; a Sex Effect or Lack Thereof? A Meta-analysis
  Parkinsonism & Related Disorders. May, 2015  |   Pubmed ID: 25962553
• Identification of Rare Protein Disulfide Isomerase Gene Variants in Amyotrophic Lateral Sclerosis Patients
  Gene. Jul, 2015  |   Pubmed ID: 25913742
• A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling
  The Journal of Biological Chemistry. May, 2015  |   Pubmed ID: 25882839
• Defining the Genetic Connection Linking Amyotrophic Lateral Sclerosis (ALS) with Frontotemporal Dementia (FTD)
  Trends in Genetics : TIG. May, 2015  |   Pubmed ID: 25869998
• A Gain-of-function Mutation in NALCN in a Child with Intellectual Disability, Ataxia and Arthrogryposis
  Human Mutation. Apr, 2015  |   Pubmed ID: 25864427
• Genetic Markers of Restless Legs Syndrome in Parkinson Disease
  Parkinsonism & Related Disorders. Jun, 2015  |   Pubmed ID: 25817513
• Comparison of Sequencing Based CNV Discovery Methods Using Monozygotic Twin Quartets
  PloS One. 2015  |   Pubmed ID: 25812131
• PMPCA Mutations Cause Abnormal Mitochondrial Protein Processing in Patients with Non-progressive Cerebellar Ataxia
  Brain : a Journal of Neurology. Jun, 2015  |   Pubmed ID: 25808372
• Loss-of-function De Novo Mutations Play an Important Role in Severe Human Neural Tube Defects
  Journal of Medical Genetics. Mar, 2015  |   Pubmed ID: 25805808
• Exome Sequencing in Amyotrophic Lateral Sclerosis Identifies Risk Genes and Pathways
  Science (New York, N.Y.). Mar, 2015  |   Pubmed ID: 25700176
• Disruption of CLPB is Associated with Congenital Microcephaly, Severe Encephalopathy and 3-methylglutaconic Aciduria
  Journal of Medical Genetics. May, 2015  |   Pubmed ID: 25650066
• Functional Variants of POC5 Identified in Patients with Idiopathic Scoliosis
  The Journal of Clinical Investigation. Mar, 2015  |   Pubmed ID: 25642776
• Early Detection of Structural Abnormalities and Cytoplasmic Accumulation of TDP-43 in Tissue-engineered Skins Derived from ALS Patients
  Acta Neuropathologica Communications. 2015  |   Pubmed ID: 25637145
• Affected Twins in the Familial Intracranial Aneurysm Study
  Cerebrovascular Diseases (Basel, Switzerland). 2015  |   Pubmed ID: 25571891
• No Evidence for GADL1 Variation As a Bipolar Disorder Susceptibility Factor in a Caucasian Lithium-responsive Cohort
  The American Journal of Psychiatry. Jan, 2015  |   Pubmed ID: 25553497
• Deleterious Mutations in the Essential MRNA Metabolism Factor, HGle1, in Amyotrophic Lateral Sclerosis
  Human Molecular Genetics. Mar, 2015  |   Pubmed ID: 25343993
• De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy
  Human Mutation. Jan, 2015  |   Pubmed ID: 25265257
• Cross-disorder Genome-wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD
  The American Journal of Psychiatry. Jan, 2015  |   Pubmed ID: 25158072
• Family-based Association Study of Common Variants, Rare Mutation Study and Epistatic Interaction Detection in HDAC Genes in Schizophrenia
  Schizophrenia Research. Dec, 2014  |   Pubmed ID: 25445625
• A Novel Nonsense Mutation in SCN9A in a Moroccan Child with Congenital Insensitivity to Pain
  Pediatric Neurology. Nov, 2014  |   Pubmed ID: 25439579
• A Homozygous Loss-of-function Variant in MYH11 in a Case with Megacystis-microcolon-intestinal Hypoperistalsis Syndrome
  European Journal of Human Genetics : EJHG. Nov, 2014  |   Pubmed ID: 25407000
• C9orf72 Repeat Expansions in Rapid Eye Movement Sleep Behaviour Disorder
  The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. Nov, 2014  |   Pubmed ID: 25377888
• Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
  Neuron. Oct, 2014  |   Pubmed ID: 25374358
• De Novo Mutations in Moderate or Severe Intellectual Disability
  PLoS Genetics. Oct, 2014  |   Pubmed ID: 25356899
• Genome-wide Association Study of Intracranial Aneurysm Identifies a New Association on Chromosome 7
  Stroke; a Journal of Cerebral Circulation. Nov, 2014  |   Pubmed ID: 25256182
• Increased Prevalence of Non-motor Symptoms in Essential Tremor
  Tremor and Other Hyperkinetic Movements (New York, N.Y.). 2014  |   Pubmed ID: 25247108
• Dopamine Transporter SLC6A3 Genotype Affects Cortico-striatal Activity of Set-shifts in Parkinson's Disease
  Brain : a Journal of Neurology. Nov, 2014  |   Pubmed ID: 25212851
• Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a Gradient of Severity in Cognitive Impairments
  PLoS Genetics. Sep, 2014  |   Pubmed ID: 25188300
• Linking Neocortical, Cognitive, and Genetic Variability in Autism with Alterations of Brain Plasticity: the Trigger-Threshold-Target Model
  Neuroscience and Biobehavioral Reviews. Nov, 2014  |   Pubmed ID: 25155242
• ODD Irritability is Associated with Obsessive-compulsive Behavior and Not ADHD in Chronic Tic Disorders
  Psychiatry Research. Dec, 2014  |   Pubmed ID: 25108592
• Identification of a Homozygous Splice Site Mutation in the Dynein Axonemal Light Chain 4 Gene on 22q13.1 in a Large Consanguineous Family from Pakistan with Congenital Mirror Movement Disorder
  Human Genetics. Nov, 2014  |   Pubmed ID: 25098561
• Vanishing White Matter Disease in French-Canadian Patients from Quebec
  Pediatric Neurology. Aug, 2014  |   Pubmed ID: 25079571
• Copy Number Variation in Obsessive-compulsive Disorder and Tourette Syndrome: a Cross-disorder Study
  Journal of the American Academy of Child and Adolescent Psychiatry. Aug, 2014  |   Pubmed ID: 25062598
• Genetic Association Signal Near NTN4 in Tourette Syndrome
  Annals of Neurology. Aug, 2014  |   Pubmed ID: 25042818
• Modifiers of (CAG)(n) Instability in Machado-Joseph Disease (MJD/SCA3) Transmissions: an Association Study with DNA Replication, Repair and Recombination Genes
  Human Genetics. Oct, 2014  |   Pubmed ID: 25026993
• Genome-wide Association Study in FTD: Divide to Conquer
  The Lancet. Neurology. Jul, 2014  |   Pubmed ID: 24943334
• Genetically Encoded Impairment of Neuronal KCC2 Cotransporter Function in Human Idiopathic Generalized Epilepsy
  EMBO Reports. Jul, 2014  |   Pubmed ID: 24928908
• Genetics of Essential Tremor: from Phenotype to Genes, Insights from Both Human and Mouse Studies
  Progress in Neurobiology. Aug-Sep, 2014  |   Pubmed ID: 24820404
• Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness
  American Journal of Human Genetics. Jun, 2014  |   Pubmed ID: 24814191
• The Genetic Landscape of Infantile Spasms
  Human Molecular Genetics. Sep, 2014  |   Pubmed ID: 24781210
• Dissection of Genetic Factors Associated with Amyotrophic Lateral Sclerosis
  Experimental Neurology. Dec, 2014  |   Pubmed ID: 24780888
• Quantitative Trait Loci (QTL) Study Identifies Novel Genomic Regions Associated to Chiari-like Malformation in Griffon Bruxellois Dogs
  PloS One. 2014  |   Pubmed ID: 24740420
• A Blinded International Study on the Reliability of Genetic Testing for GGGGCC-repeat Expansions in C9orf72 Reveals Marked Differences in Results Among 14 Laboratories
  Journal of Medical Genetics. Jun, 2014  |   Pubmed ID: 24706941
• Molecular Aspects of Hereditary Spastic Paraplegia
  Experimental Cell Research. Jul, 2014  |   Pubmed ID: 24631291
• Genome-wide Association Study Reveals Two New Risk Loci for Bipolar Disorder
  Nature Communications. 2014  |   Pubmed ID: 24618891
• Expanding the Clinical Phenotype Associated with ELOVL4 Mutation: Study of a Large French-Canadian Family with Autosomal Dominant Spinocerebellar Ataxia and Erythrokeratodermia
  JAMA Neurology. Apr, 2014  |   Pubmed ID: 24566826
• Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia
  American Journal of Human Genetics. Feb, 2014  |   Pubmed ID: 24388663
• Decreased Global Methylation in Patients with Bipolar Disorder Who Respond to Lithium
  The International Journal of Neuropsychopharmacology / Official Scientific Journal of the Collegium Internationale Neuropsychopharmacologicum (CINP). Apr, 2014  |   Pubmed ID: 24345589
• Exome Sequencing As a Diagnostic Tool for Pediatric-onset Ataxia
  Human Mutation. Jan, 2014  |   Pubmed ID: 24108619
• SYN2 is an Autism Predisposing Gene: Loss-of-function Mutations Alter Synaptic Vesicle Cycling and Axon Outgrowth
  Human Molecular Genetics. Jan, 2014  |   Pubmed ID: 23956174
• Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. Elegans
  PloS One. 2013  |   Pubmed ID: 24349511
• Response Inhibition in Tic Disorders: Waiting to Respond Is Harder When ADHD Is Present
  Journal of Attention Disorders. Dec, 2013  |   Pubmed ID: 24305059
• Alterations in Phosphorylated CAMP Response Element-binding Protein (pCREB) Signaling: an Endophenotype of Lithium-responsive Bipolar Disorder?
  Bipolar Disorders. Dec, 2013  |   Pubmed ID: 24238631
• Family-based Exome-sequencing Approach Identifies Rare Susceptibility Variants for Lithium-responsive Bipolar Disorder
  Genome / National Research Council Canada = Génome / Conseil National De Recherches Canada. Oct, 2013  |   Pubmed ID: 24237345
• Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture
  PLoS Genetics. Oct, 2013  |   Pubmed ID: 24204291
• The Impact of Phenotypic and Genetic Heterogeneity on Results of Genome Wide Association Studies of Complex Diseases
  PloS One. 2013  |   Pubmed ID: 24146854
• Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy
  Neuron. Oct, 2013  |   Pubmed ID: 24139043
• ERBB4 Mutations That Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19
  American Journal of Human Genetics. Nov, 2013  |   Pubmed ID: 24119685
• Whole-exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans
  PLoS Genetics. 2013  |   Pubmed ID: 24086152
• Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia
  American Journal of Human Genetics. Oct, 2013  |   Pubmed ID: 24075189
• SYNE1 Mutations in Autosomal Recessive Cerebellar Ataxia
  JAMA Neurology. Oct, 2013  |   Pubmed ID: 23959263
• Genetic Relationship Between Five Psychiatric Disorders Estimated from Genome-wide SNPs
  Nature Genetics. Aug, 2013  |   Pubmed ID: 23933821
• Assessment of Response to Lithium Maintenance Treatment in Bipolar Disorder: A Consortium on Lithium Genetics (ConLiGen) Report
  PloS One. 2013  |   Pubmed ID: 23840348
• Differential Effect of Lithium on Spermidine/spermine N1-acetyltransferase Expression in Suicidal Behaviour
  The International Journal of Neuropsychopharmacology / Official Scientific Journal of the Collegium Internationale Neuropsychopharmacologicum (CINP). Nov, 2013  |   Pubmed ID: 23768751
• Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia
  American Journal of Human Genetics. Jul, 2013  |   Pubmed ID: 23746551
• Mitochondrial Damage Revealed by Immunoselection for ALS-linked Misfolded SOD1
  Human Molecular Genetics. Oct, 2013  |   Pubmed ID: 23736301
• Potassium-chloride Cotransporter 3 Interacts with Vav2 to Synchronize the Cell Volume Decrease Response with Cell Protrusion Dynamics
  PloS One. 2013  |   Pubmed ID: 23724134
• Disruption of TBC1D7, a Subunit of the TSC1-TSC2 Protein Complex, in Intellectual Disability and Megalencephaly
  Journal of Medical Genetics. Nov, 2013  |   Pubmed ID: 23687350
• Genetic and Epigenetic Studies of Amyotrophic Lateral Sclerosis
  Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. May, 2013  |   Pubmed ID: 23678879
• Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-specific Expression
  Human Mutation. Aug, 2013  |   Pubmed ID: 23649844
• TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update
  Human Mutation. Jun, 2013  |   Pubmed ID: 23559573
• Rapid EEG Activity During Sleep Dominates in Mild Traumatic Brain Injury Patients with Acute Pain
  Journal of Neurotrauma. Apr, 2013  |   Pubmed ID: 23510169
• ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy
  PLoS Genetics. 2013  |   Pubmed ID: 23459209
• Comparative Analysis of the Expression Profile of Wnk1 and Wnk1/Hsn2 Splice Variants in Developing and Adult Mouse Tissues
  PloS One. 2013  |   Pubmed ID: 23451271
• Investigating the Contribution of VAPB/ALS8 Loss of Function in Amyotrophic Lateral Sclerosis
  Human Molecular Genetics. Jun, 2013  |   Pubmed ID: 23446633
• Investigation of Rare Variants in LRP1, KPNA1, ALS2CL and ZNF480 Genes in Schizophrenia Patients Reflects Genetic Heterogeneity of the Disease
  Behavioral and Brain Functions : BBF. 2013  |   Pubmed ID: 23425335
• C9orf72 Repeat Expansions Are a Rare Genetic Cause of Parkinsonism
  Brain : a Journal of Neurology. Feb, 2013  |   Pubmed ID: 23413259
• WNK1/HSN2 Mutation in Human Peripheral Neuropathy Deregulates KCC2 Expression and Posterior Lateral Line Development in Zebrafish (Danio Rerio)
  PLoS Genetics. 2013  |   Pubmed ID: 23300475
• Investigation of C9orf72 Repeat Expansions in Parkinson's Disease
  Neurobiology of Aging. Jun, 2013  |   Pubmed ID: 23273600
• Familial Intracranial Aneurysms: is Anatomic Vulnerability Heritable?
  Stroke; a Journal of Cerebral Circulation. Jan, 2013  |   Pubmed ID: 23204049
• Analysis of the Effects of Rare Variants on Splicing Identifies Alterations in GABAA Receptor Genes in Autism Spectrum Disorder Individuals
  European Journal of Human Genetics : EJHG. Jul, 2013  |   Pubmed ID: 23169495
• Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency
  Human Mutation. Feb, 2013  |   Pubmed ID: 23161826
• Epigenetic Regulation of Synapsin Genes in Mood Disorders
  Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. Jan, 2013  |   Pubmed ID: 23147482
• Mutation Analysis of PFN1 in Familial Amyotrophic Lateral Sclerosis Patients
  Neurobiology of Aging. Apr, 2013  |   Pubmed ID: 23062600
• Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome
  Human Mutation. Jan, 2013  |   Pubmed ID: 23033317
• Mortality and Causes of Death in the Familial Intracranial Aneurysm Study
  International Journal of Stroke : Official Journal of the International Stroke Society. Dec, 2013  |   Pubmed ID: 22928607
• Genetic Analysis of SIGMAR1 As a Cause of Familial ALS with Dementia
  European Journal of Human Genetics : EJHG. Feb, 2013  |   Pubmed ID: 22739338
• H3K4 Tri-methylation in Synapsin Genes Leads to Different Expression Patterns in Bipolar Disorder and Major Depression
  The International Journal of Neuropsychopharmacology / Official Scientific Journal of the Collegium Internationale Neuropsychopharmacologicum (CINP). Mar, 2013  |   Pubmed ID: 22571925
• Rare Variants in Complex Traits: Novel Identification Strategies and the Role of De Novo Mutations
  Human Heredity. 2012  |   Pubmed ID: 23594499
• Endoplasmic Reticulum Lipid Rafts and Upper Motor Neuron Degeneration
  Annals of Neurology. Oct, 2012  |   Pubmed ID: 23109142
• The FUS About Arginine Methylation in ALS and FTLD
  The EMBO Journal. Nov, 2012  |   Pubmed ID: 23085990
• Identification of Novel Genes Involved in Migraine
  Headache. Oct, 2012  |   Pubmed ID: 23030542
• Mutations in TMEM231 Cause Joubert Syndrome in French Canadians
  Journal of Medical Genetics. Oct, 2012  |   Pubmed ID: 23012439
• De Novo Mutations in Neurological and Psychiatric Disorders: Effects, Diagnosis and Prevention
  Genome Medicine. 2012  |   Pubmed ID: 23009675
• C9orf72 Hexanucleotide Repeat Expansions As the Causative Mutation for Chromosome 9p21-linked Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
  Archives of Neurology. Sep, 2012  |   Pubmed ID: 22964911
• Genome-wide Association Study of Intracranial Aneurysms Confirms Role of Anril and SOX17 in Disease Risk
  Stroke; a Journal of Cerebral Circulation. Nov, 2012  |   Pubmed ID: 22961961
• VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families
  American Journal of Human Genetics. Sep, 2012  |   Pubmed ID: 22958904
• Harnessing Genomics to Identify Environmental Determinants of Heritable Disease
  Mutation Research. Aug, 2012  |   Pubmed ID: 22935230
• Exome Sequencing Identifies FUS Mutations As a Cause of Essential Tremor
  American Journal of Human Genetics. Aug, 2012  |   Pubmed ID: 22863194
• Familial ALS: Less Common Than We Think?
  Journal of Neurology, Neurosurgery, and Psychiatry. Dec, 2012  |   Pubmed ID: 22791902
• UBQLN2/ubiquilin 2 Mutation and Pathology in Familial Amyotrophic Lateral Sclerosis
  Neurobiology of Aging. Oct, 2012  |   Pubmed ID: 22717235
• UBQLN2 Mutations Are Rare in French and French-Canadian Amyotrophic Lateral Sclerosis
  Neurobiology of Aging. Sep, 2012  |   Pubmed ID: 22560112
• Unruptured Intracranial Aneurysms in the Familial Intracranial Aneurysm and International Study of Unruptured Intracranial Aneurysms Cohorts: Differences in Multiplicity and Location
  Journal of Neurosurgery. Jul, 2012  |   Pubmed ID: 22540404
• Expanding the Differential Diagnosis of Inherited Neuropathies with Non-uniform Conduction: Andermann Syndrome
  Journal of the Peripheral Nervous System : JPNS. Mar, 2012  |   Pubmed ID: 22462673
• Schizophrenia Genetics: Putting All the Pieces Together
  Current Neurology and Neuroscience Reports. Jun, 2012  |   Pubmed ID: 22456906
• Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population
  American Journal of Human Genetics. Apr, 2012  |   Pubmed ID: 22425360
• Loss of Neuronal Potassium/chloride Cotransporter 3 (KCC3) is Responsible for the Degenerative Phenotype in a Conditional Mouse Model of Hereditary Motor and Sensory Neuropathy Associated with Agenesis of the Corpus Callosum
  The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. Mar, 2012  |   Pubmed ID: 22423107
• Association Between Schizophrenia and Genetic Variation in DCC: a Case-control Study
  Schizophrenia Research. May, 2012  |   Pubmed ID: 22418395
• CYP7B1 Mutations in French-Canadian Hereditary Spastic Paraplegia Subjects
  The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. Jan, 2012  |   Pubmed ID: 22384504
• Synapsin II is Involved in the Molecular Pathway of Lithium Treatment in Bipolar Disorder
  PloS One. 2012  |   Pubmed ID: 22384280
• Mutant TDP-43 and FUS Cause Age-dependent Paralysis and Neurodegeneration in C. Elegans
  PloS One. 2012  |   Pubmed ID: 22363618
• Analysis of the SORT1 Gene in Familial Amyotrophic Lateral Sclerosis
  Neurobiology of Aging. Aug, 2012  |   Pubmed ID: 22361451
• Functional Analysis of Missense Variants in the TRESK (KCNK18) K Channel
  Scientific Reports. 2012  |   Pubmed ID: 22355750
• A Novel PLP1 Mutation Further Expands the Clinical Heterogeneity at the Locus
  The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. Mar, 2012  |   Pubmed ID: 22343157
• SOD1 Mutations: More to Learn
  The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. Mar, 2012  |   Pubmed ID: 22343144
• 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
• Neurophysiological Investigation of Congenital Mirror Movements in a Patient with Agenesis of the Corpus Callosum
  Brain Stimulation. Mar, 2011  |   Pubmed ID: 22037131
• 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
• Response to Treatment in Bipolar Disorder
  Current Opinion in Psychiatry. Jan, 2011  |   Pubmed ID: 21088584
• 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
• Implication of Synapse-related Genes in Bipolar Disorder by Linkage and Gene Expression Analyses
  The International Journal of Neuropsychopharmacology / Official Scientific Journal of the Collegium Internationale Neuropsychopharmacologicum (CINP). Nov, 2010  |   Pubmed ID: 20667171
• De Novo Truncating Mutation in Kinesin 17 Associated with Schizophrenia
  Biological Psychiatry. Oct, 2010  |   Pubmed ID: 20646681
• SOD1, ANG, VAPB, TARDBP, and FUS Mutations in Familial Amyotrophic Lateral Sclerosis: Genotype-phenotype Correlations
  Journal of Medical Genetics. Aug, 2010  |   Pubmed ID: 20577002
• 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
• The International Consortium on Lithium Genetics (ConLiGen): an Initiative by the NIMH and IGSLI to Study the Genetic Basis of Response to Lithium Treatment
  Neuropsychobiology. 2010  |   Pubmed ID: 20453537
• 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
• The Relationship Between Smoking and Replicated Sequence Variants on Chromosomes 8 and 9 with Familial Intracranial Aneurysm
  Stroke; a Journal of Cerebral Circulation. Jun, 2010  |   Pubmed ID: 20190001
• [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
• Somatosensory-motor Bodily Representation Cortical Thinning in Tourette: Effects of Tic Severity, Age and Gender
  Cortex; a Journal Devoted to the Study of the Nervous System and Behavior. Jun, 2010  |   Pubmed ID: 19733347
• 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