Guy Rouleau

Guy Rouleau

Montreal Neurological Institute and Hospital, McGill University

Affiliated withMcGill University

Research Area

Neuroscience

Biography

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JoVE Journal Publications

ArticleTotal : 1
Year
Quantitative Analysis of Climbing Defects in a Drosophila Model of Neurodegenerative Disorders
Publication title

Cited by 116

2015

Other Publications

Article
Year
A mutation that creates a pseudoexon in SOD1 causes familial ALS.

Annals of human genetics| PubMed ID: 19847927

2009
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| PubMed ID: 19733347

2010
Association of intronic variants of the BTBD9 gene with Tourette syndrome.

Archives of neurology| PubMed ID: 19822783

2009
Genetics of motor neuron disorders: new insights into pathogenic mechanisms.

Nature reviews. Genetics| PubMed ID: 19823194

2009
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.

BMC genomics| PubMed ID: 19917086

2009
Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo.

Human molecular genetics| PubMed ID: 19959528

2010
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| PubMed ID: 20001489

2010
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| PubMed ID: 20007371

2009
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| PubMed ID: 20041717

2010
Genome-wide TDT analysis in French-Canadian families with Tourette syndrome.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques| PubMed ID: 20169783

2010
[De novo mutations in SYNGAP1 associated with non-syndromic mental retardation].

Médecine sciences : M/S| PubMed ID: 20188038

2010
The relationship between smoking and replicated sequence variants on chromosomes 8 and 9 with familial intracranial aneurysm.

Stroke; a journal of cerebral circulation| PubMed ID: 20190001

2010
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| PubMed ID: 20227501

2010
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| PubMed ID: 20385823

2010
Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis.

Archives of neurology| PubMed ID: 20385924

2010
Mutations in DCC cause congenital mirror movements.

Science (New York, N.Y.)| PubMed ID: 20431009

2010
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| PubMed ID: 20453537

2010
Family study of restless legs syndrome in Quebec, Canada: clinical characterization of 671 familial cases.

Archives of neurology| PubMed ID: 20457962

2010
Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?

Journal of neurology, neurosurgery, and psychiatry| PubMed ID: 20460594

2010
Association of NPAS3 exonic variation with schizophrenia.

Schizophrenia research| PubMed ID: 20466522

2010
Integrative gene-tissue microarray-based approach for identification of human disease biomarkers: application to amyotrophic lateral sclerosis.

Human molecular genetics| PubMed ID: 20530642

2010
Cognitive impairment in ARCA-1, a newly discovered pure cerebellar ataxia syndrome.

Cerebellum (London, England)| PubMed ID: 20559786

2010
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.

Journal of medical genetics| PubMed ID: 20577002

2010
De novo truncating mutation in Kinesin 17 associated with schizophrenia.

Biological psychiatry| PubMed ID: 20646681

2010
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)| PubMed ID: 20667171

2010
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.

American journal of human genetics| PubMed ID: 20797689

2010
Chromosome 9p21 in amyotrophic lateral sclerosis: the plot thickens.

Lancet neurology| PubMed ID: 20801719

2010
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.

Science translational medicine| PubMed ID: 20844286

2010
Restless legs syndrome mothers and attention-deficit/hyperactivity disorder children: what happened between them?

Sleep medicine| PubMed ID: 20851048

2011
Early impact of 5-HTTLPR polymorphism on the neural correlates of sadness.

Neuroscience letters| PubMed ID: 20851164

2010
A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura.

Nature medicine| PubMed ID: 20871611

2010
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.

American journal of human genetics| PubMed ID: 20950788

2010
Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis.

Neurobiology of aging| PubMed ID: 21074290

2011
Response to treatment in bipolar disorder.

Current opinion in psychiatry| PubMed ID: 21088584

2011
A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.

Brain : a journal of neurology| PubMed ID: 21115467

2011
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

American journal of human genetics| PubMed ID: 21129721

2010
Cellular expression of the K+-Cl- cotransporter KCC3 in the central nervous system of mouse.

Brain research| PubMed ID: 21147077

2011
Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis.

Journal of human genetics| PubMed ID: 21160488

2011
Common variants in P2RY11 are associated with narcolepsy.

Nature genetics| PubMed ID: 21170044

2011
Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis.

Archives of neurology| PubMed ID: 21220648

2011
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

Biological psychiatry| PubMed ID: 21237447

2011
TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1.

Human molecular genetics| PubMed ID: 21257637

2011
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| PubMed ID: 21261515

2011
LINGO1 variants in the French-Canadian population.

PloS one| PubMed ID: 21264305

2011
Where are the missing pieces of the schizophrenia genetics puzzle?

Current opinion in genetics & development| PubMed ID: 21277191

2011
Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation.

Orphanet journal of rare diseases| PubMed ID: 21294910

2011
Intellectual disability without epilepsy associated with STXBP1 disruption.

European journal of human genetics : EJHG| PubMed ID: 21364700

2011
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

American journal of human genetics| PubMed ID: 21376300

2011
A population genetic approach to mapping neurological disorder genes using deep resequencing.

PLoS genetics| PubMed ID: 21383861

2011
No effect on SOD1 splicing by TARDP or FUS mutations.

Archives of neurology| PubMed ID: 21403029

2011
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.

Human genetics| PubMed ID: 21424692

2011
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.

BMC medical genomics| PubMed ID: 21439053

2011
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.

Human molecular genetics| PubMed ID: 21441247

2011
The case for locus-specific databases.

Nature reviews. Genetics| PubMed ID: 21540879

2011
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| PubMed ID: 21628467

2011
Variation in genome-wide mutation rates within and between human families.

Nature genetics| PubMed ID: 21666693

2011
Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis.

Archives of neurology| PubMed ID: 21670397

2011
Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis.

Annals of neurology| PubMed ID: 21710629

2011
The ongoing dissection of the genetic architecture of autistic spectrum disorder.

Molecular autism| PubMed ID: 21740537

2011
Increased exonic de novo mutation rate in individuals with schizophrenia.

Nature genetics| PubMed ID: 21743468

2011
Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments.

Brain : a journal of neurology| PubMed ID: 21752789

2011
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.

PLoS genetics| PubMed ID: 21779176

2011
Early influence of the rs4675690 on the neural substrates of sadness.

Journal of affective disorders| PubMed ID: 21807415

2011
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

American journal of human genetics| PubMed ID: 21820098

2011
FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis.

PLoS genetics| PubMed ID: 21829392

2011
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| PubMed ID: 21847616

2011
Migraine: Role of the TRESK two-pore potassium channel.

The international journal of biochemistry & cell biology| PubMed ID: 21855646

2011
Glucocerebrosidase mutations in a French-Canadian Parkinson's disease cohort.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques| PubMed ID: 21856586

2011
A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema.

Human mutation| PubMed ID: 21898657

2011
Amyotrophic lateral sclerosis: new genes, new models, and new mechanisms.

F1000 biology reports| PubMed ID: 21941597

2011
A role for ubiquilin 2 mutations in neurodegeneration.

Nature reviews. Neurology| PubMed ID: 21989241

2011
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| PubMed ID: 21994374

2011
Neurophysiological investigation of congenital mirror movements in a patient with agenesis of the corpus callosum.

Brain stimulation| PubMed ID: 22037131

2011
Exome sequencing reveals SPG11 mutations causing juvenile ALS.

Neurobiology of aging| PubMed ID: 22154821

2012
Novel FUS Deletion in a Patient With Juvenile Amyotrophic Lateral Sclerosis.

Archives of neurology| PubMed ID: 22248478

2012
Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.

European journal of human genetics : EJHG| PubMed ID: 22258530

2012
Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.

Human molecular genetics| PubMed ID: 22337953

2012
SOD1 mutations: more to learn.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques| PubMed ID: 22343144

2012
A novel PLP1 mutation further expands the clinical heterogeneity at the locus.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques| PubMed ID: 22343157

2012
Functional analysis of missense variants in the TRESK (KCNK18) K channel.

Scientific reports| PubMed ID: 22355750

2012
Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis.

Neurobiology of aging| PubMed ID: 22361451

2012
Mutant TDP-43 and FUS cause age-dependent paralysis and neurodegeneration in C. elegans.

PloS one| PubMed ID: 22363618

2012
Synapsin II is involved in the molecular pathway of lithium treatment in bipolar disorder.

PloS one| PubMed ID: 22384280

2012
CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques| PubMed ID: 22384504

2012
Association between schizophrenia and genetic variation in DCC: a case-control study.

Schizophrenia research| PubMed ID: 22418395

2012
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 wi...

The Journal of neuroscience : the official journal of the Society for Neuroscience| PubMed ID: 22423107

2012
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

American journal of human genetics| PubMed ID: 22425360

2012
Schizophrenia genetics: putting all the pieces together.

Current neurology and neuroscience reports| PubMed ID: 22456906

2012
Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome.

Journal of the peripheral nervous system : JPNS| PubMed ID: 22462673

2012
Unruptured intracranial aneurysms in the Familial Intracranial Aneurysm and International Study of Unruptured Intracranial Aneurysms cohorts: differences in multiplicity and location.

Journal of neurosurgery| PubMed ID: 22540404

2012
UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis.

Neurobiology of aging| PubMed ID: 22560112

2012
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)| PubMed ID: 22571925

2013
UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis.

Neurobiology of aging| PubMed ID: 22717235

2012
Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia.

European journal of human genetics : EJHG| PubMed ID: 22739338

2013
Familial ALS: less common than we think?

Journal of neurology, neurosurgery, and psychiatry| PubMed ID: 22791902

2012
Exome sequencing identifies FUS mutations as a cause of essential tremor.

American journal of human genetics| PubMed ID: 22863194

2012
Mortality and causes of death in the Familial Intracranial Aneurysm study.

International journal of stroke : official journal of the International Stroke Society| PubMed ID: 22928607

2013
Harnessing genomics to identify environmental determinants of heritable disease.

Mutation research| PubMed ID: 22935230

2012
VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.

American journal of human genetics| PubMed ID: 22958904

2012
Genome-wide association study of intracranial aneurysms confirms role of Anril and SOX17 in disease risk.

Stroke; a journal of cerebral circulation| PubMed ID: 22961961

2012
C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia.

Archives of neurology| PubMed ID: 22964911

2012
De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention.

Genome medicine| PubMed ID: 23009675

2012
Mutations in TMEM231 cause Joubert syndrome in French Canadians.

Journal of medical genetics| PubMed ID: 23012439

2012
Identification of novel genes involved in migraine.

Headache| PubMed ID: 23030542

2012
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome.

Human mutation| PubMed ID: 23033317

2013
Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.

Neurobiology of aging| PubMed ID: 23062600

2013
The FUS about arginine methylation in ALS and FTLD.

The EMBO journal| PubMed ID: 23085990

2012
Endoplasmic reticulum lipid rafts and upper motor neuron degeneration.

Annals of neurology| PubMed ID: 23109142

2012
Epigenetic regulation of synapsin genes in mood disorders.

Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology| PubMed ID: 23147482

2013
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

Human mutation| PubMed ID: 23161826

2013
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| PubMed ID: 23169495

2013
Familial intracranial aneurysms: is anatomic vulnerability heritable?

Stroke; a journal of cerebral circulation| PubMed ID: 23204049

2013
Investigation of C9orf72 repeat expansions in Parkinson's disease.

Neurobiology of aging| PubMed ID: 23273600

2013
WNK1/HSN2 mutation in human peripheral neuropathy deregulates KCC2 expression and posterior lateral line development in zebrafish (Danio rerio).

PLoS genetics| PubMed ID: 23300475

2013
C9orf72 repeat expansions are a rare genetic cause of parkinsonism.

Brain : a journal of neurology| PubMed ID: 23413259

2013
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| PubMed ID: 23425335

2013
Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis.

Human molecular genetics| PubMed ID: 23446633

2013
Comparative analysis of the expression profile of Wnk1 and Wnk1/Hsn2 splice variants in developing and adult mouse tissues.

PloS one| PubMed ID: 23451271

2013
ImmunoChip study implicates antigen presentation to T cells in narcolepsy.

PLoS genetics| PubMed ID: 23459209

2013
Rapid EEG activity during sleep dominates in mild traumatic brain injury patients with acute pain.

Journal of neurotrauma| PubMed ID: 23510169

2013
TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.

Human mutation| PubMed ID: 23559573

2013
Rare variants in complex traits: novel identification strategies and the role of de novo mutations.

Human heredity| PubMed ID: 23594499

2012
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.

Human mutation| PubMed ID: 23649844

2013
Genetic and epigenetic studies of amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis & frontotemporal degeneration| PubMed ID: 23678879

2013
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.

Journal of medical genetics| PubMed ID: 23687350

2013
Potassium-chloride cotransporter 3 interacts with Vav2 to synchronize the cell volume decrease response with cell protrusion dynamics.

PloS one| PubMed ID: 23724134

2013
Mitochondrial damage revealed by immunoselection for ALS-linked misfolded SOD1.

Human molecular genetics| PubMed ID: 23736301

2013
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

American journal of human genetics| PubMed ID: 23746551

2013
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)| PubMed ID: 23768751

2013
Assessment of Response to Lithium Maintenance Treatment in Bipolar Disorder: A Consortium on Lithium Genetics (ConLiGen) Report.

PloS one| PubMed ID: 23840348

2013
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.

Nature genetics| PubMed ID: 23933821

2013
SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth.

Human molecular genetics| PubMed ID: 23956174

2014
SYNE1 mutations in autosomal recessive cerebellar ataxia.

JAMA neurology| PubMed ID: 23959263

2013
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

American journal of human genetics| PubMed ID: 24075189

2013
Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans.

PLoS genetics| PubMed ID: 24086152

2013
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.

Human mutation| PubMed ID: 24108619

2014
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.

American journal of human genetics| PubMed ID: 24119685

2013
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.

Neuron| PubMed ID: 24139043

2013
The impact of phenotypic and genetic heterogeneity on results of genome wide association studies of complex diseases.

PloS one| PubMed ID: 24146854

2013
Partitioning the heritability of tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture.

PLoS genetics| PubMed ID: 24204291

2013
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| PubMed ID: 24237345

2013
Alterations in phosphorylated cAMP response element-binding protein (pCREB) signaling: an endophenotype of lithium-responsive bipolar disorder?

Bipolar disorders| PubMed ID: 24238631

2013
Response Inhibition in Tic Disorders: Waiting to Respond Is Harder When ADHD Is Present.

Journal of attention disorders| PubMed ID: 24305059

2013
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)| PubMed ID: 24345589

2014
Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans.

PloS one| PubMed ID: 24349511

2013
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.

American journal of human genetics| PubMed ID: 24388663

2014
Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.

JAMA neurology| PubMed ID: 24566826

2014
Genome-wide association study reveals two new risk loci for bipolar disorder.

Nature communications| PubMed ID: 24618891

2014
Molecular aspects of hereditary spastic paraplegia.

Experimental cell research| PubMed ID: 24631291

2014
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| PubMed ID: 24706941

2014
Quantitative trait loci (QTL) study identifies novel genomic regions associated to Chiari-like malformation in Griffon Bruxellois dogs.

PloS one| PubMed ID: 24740420

2014
Dissection of genetic factors associated with amyotrophic lateral sclerosis.

Experimental neurology| PubMed ID: 24780888

2014
The genetic landscape of infantile spasms.

Human molecular genetics| PubMed ID: 24781210

2014
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

American journal of human genetics| PubMed ID: 24814191

2014
Genetics of essential tremor: from phenotype to genes, insights from both human and mouse studies.

Progress in neurobiology| PubMed ID: 24820404

2014
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.

EMBO reports| PubMed ID: 24928908

2014
Genome-wide association study in FTD: divide to conquer.

The Lancet. Neurology| PubMed ID: 24943334

2014
Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes.

Human genetics| PubMed ID: 25026993

2014
Genetic association signal near NTN4 in Tourette syndrome.

Annals of neurology| PubMed ID: 25042818

2014
Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.

Journal of the American Academy of Child and Adolescent Psychiatry| PubMed ID: 25062598

2014
Vanishing white matter disease in French-Canadian patients from Quebec.

Pediatric neurology| PubMed ID: 25079571

2014
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 disord...

Human genetics| PubMed ID: 25098561

2014
ODD irritability is associated with obsessive-compulsive behavior and not ADHD in chronic tic disorders.

Psychiatry research| PubMed ID: 25108592

2014
Linking neocortical, cognitive, and genetic variability in autism with alterations of brain plasticity: the Trigger-Threshold-Target model.

Neuroscience and biobehavioral reviews| PubMed ID: 25155242

2014
Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.

The American journal of psychiatry| PubMed ID: 25158072

2015
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

PLoS genetics| PubMed ID: 25188300

2014
Dopamine transporter SLC6A3 genotype affects cortico-striatal activity of set-shifts in Parkinson's disease.

Brain : a journal of neurology| PubMed ID: 25212851

2014
Increased Prevalence of Non-motor Symptoms in Essential Tremor.

Tremor and other hyperkinetic movements (New York, N.Y.)| PubMed ID: 25247108

2014
Genome-wide association study of intracranial aneurysm identifies a new association on chromosome 7.

Stroke; a journal of cerebral circulation| PubMed ID: 25256182

2014
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.

Human mutation| PubMed ID: 25265257

2015
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

Human molecular genetics| PubMed ID: 25343993

2015
De novo mutations in moderate or severe intellectual disability.

PLoS genetics| PubMed ID: 25356899

2014
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Neuron| PubMed ID: 25374358

2014
C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques| PubMed ID: 25377888

2014
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.

European journal of human genetics : EJHG| PubMed ID: 25407000

2014
A novel nonsense mutation in SCN9A in a Moroccan child with congenital insensitivity to pain.

Pediatric neurology| PubMed ID: 25439579

2014
Family-based association study of common variants, rare mutation study and epistatic interaction detection in HDAC genes in schizophrenia.

Schizophrenia research| PubMed ID: 25445625

2014
No evidence for GADL1 variation as a bipolar disorder susceptibility factor in a Caucasian lithium-responsive cohort.

The American journal of psychiatry| PubMed ID: 25553497

2015
Affected twins in the familial intracranial aneurysm study.

Cerebrovascular diseases (Basel, Switzerland)| PubMed ID: 25571891

2015
Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients.

Acta neuropathologica communications| PubMed ID: 25637145

2015
Functional variants of POC5 identified in patients with idiopathic scoliosis.

The Journal of clinical investigation| PubMed ID: 25642776

2015
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.

Journal of medical genetics| PubMed ID: 25650066

2015
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

Science (New York, N.Y.)| PubMed ID: 25700176

2015
Loss-of-function de novo mutations play an important role in severe human neural tube defects.

Journal of medical genetics| PubMed ID: 25805808

2015
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

Brain : a journal of neurology| PubMed ID: 25808372

2015
Comparison of sequencing based CNV discovery methods using monozygotic twin quartets.

PloS one| PubMed ID: 25812131

2015
Genetic markers of Restless Legs Syndrome in Parkinson disease.

Parkinsonism & related disorders| PubMed ID: 25817513

2015
A gain-of-function mutation in NALCN in a child with intellectual disability, ataxia and arthrogryposis.

Human mutation| PubMed ID: 25864427

2015
Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).

Trends in genetics : TIG| PubMed ID: 25869998

2015
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+ Signali...

The Journal of biological chemistry| PubMed ID: 25882839

2015
Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients.

Gene| PubMed ID: 25913742

2015
LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis.

Parkinsonism & related disorders| PubMed ID: 25962553

2015
Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population.

PloS one| PubMed ID: 26010953

2015
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Brain : a journal of neurology| PubMed ID: 26026163

2015
Mutation burden of rare variants in schizophrenia candidate genes.

PloS one| PubMed ID: 26039597

2015