Guy Rouleau

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

Somatosensory-motor bodily representation cortical thinning in Tourette: effects of tic severity, age and gender.

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

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

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

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

Analysis of DPP6 and FGGY as candidate genes for amyotrophic lateral sclerosis.

Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis.

Characterization of sirtuin inhibitors in nematodes expressing a muscular dystrophy protein reveals muscle cell and behavioral protection by specific sirtinol analogues.

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

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

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

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.

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.

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

Mutations in DCC cause congenital mirror movements.

The International Consortium on Lithium Genetics (ConLiGen): an initiative by the NIMH and IGSLI to study the genetic basis of response to lithium treatment.

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

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

Association of NPAS3 exonic variation with schizophrenia.

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

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

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

De novo truncating mutation in Kinesin 17 associated with schizophrenia.

Implication of synapse-related genes in bipolar disorder by linkage and gene expression analyses.

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

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

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

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

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

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

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

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

Response to treatment in bipolar disorder.

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

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

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

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

Common variants in P2RY11 are associated with narcolepsy.

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

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

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

Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis.

LINGO1 variants in the French-Canadian population.

Where are the missing pieces of the schizophrenia genetics puzzle?

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

Intellectual disability without epilepsy associated with STXBP1 disruption.

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

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

No effect on SOD1 splicing by TARDP or FUS mutations.

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

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

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

The case for locus-specific databases.

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.

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

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

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

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

Increased exonic de novo mutation rate in individuals with schizophrenia.

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

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

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

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

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

Letter to the editors: comment on "Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families"

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

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

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

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

A role for ubiquilin 2 mutations in neurodegeneration.

Voltage-gated Na+ channel β1B: a secreted cell adhesion molecule involved in human epilepsy.

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

Exome sequencing reveals SPG11 mutations causing juvenile ALS.

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

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

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

SOD1 mutations: more to learn.

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

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

Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis.

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

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

CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects.

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

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.

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

Schizophrenia genetics: putting all the pieces together.

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

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

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

H3K4 tri-methylation in synapsin genes leads to different expression patterns in bipolar disorder and major depression.

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

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

Familial ALS: less common than we think?

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

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

Harnessing genomics to identify environmental determinants of heritable disease.

VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.

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

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

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

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

Identification of novel genes involved in migraine.

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

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.

The FUS about arginine methylation in ALS and FTLD.

Endoplasmic reticulum lipid rafts and upper motor neuron degeneration.

Epigenetic regulation of synapsin genes in mood disorders.

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

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

Familial intracranial aneurysms: is anatomic vulnerability heritable?

Investigation of C9orf72 repeat expansions in Parkinson's disease.

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

C9orf72 repeat expansions are a rare genetic cause of parkinsonism.

Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease.

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

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

ImmunoChip study implicates antigen presentation to T cells in narcolepsy.

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

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

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

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

Genetic and epigenetic studies of amyotrophic lateral sclerosis.

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

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

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

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

Differential effect of lithium on spermidine/spermine N1-acetyltransferase expression in suicidal behaviour.

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

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

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

SYNE1 mutations in autosomal recessive cerebellar ataxia.

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

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

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

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

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

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

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

Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder.

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

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

Decreased global methylation in patients with bipolar disorder who respond to lithium.

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

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

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

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

Molecular aspects of hereditary spastic paraplegia.

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.

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

Dissection of genetic factors associated with amyotrophic lateral sclerosis.

The genetic landscape of infantile spasms.

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

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

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

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

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

Genetic association signal near NTN4 in Tourette syndrome.

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

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

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.

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

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

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

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

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

Increased Prevalence of Non-motor Symptoms in Essential Tremor.

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

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

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

De novo mutations in moderate or severe intellectual disability.

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

C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder.

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

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

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

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

Affected twins in the familial intracranial aneurysm study.

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

Functional variants of POC5 identified in patients with idiopathic scoliosis.

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

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

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

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

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

Genetic markers of Restless Legs Syndrome in Parkinson disease.

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

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

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.

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

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

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

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

Mutation burden of rare variants in schizophrenia candidate genes.