Guy A. Rouleau

A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q.

Neuropsychological impairments in neuroleptic-responder vs. -nonresponder schizophrenic patients and healthy volunteers.

Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.

Familial amyotrophic lateral sclerosis.

Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation.

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.

Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population.

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.

An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred.

Dopamine beta-hydroxylase (DBH) gene and schizophrenia phenotypic variability: a genetic association study.

Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).

Progress in understanding the pathogenesis of oculopharyngeal muscular dystrophy.

Mutation screening of FOXP2 in individuals diagnosed with autistic disorder.

NF2 tumor suppressor gene: a comprehensive and efficient detection of somatic mutations by denaturing HPLC and microarray-CGH.

Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation.

Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder.

[Severe neuropathy with agenesis of the corpus callosum].

Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia.

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.

Mutational analysis of 206 families with cavernous malformations.

Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy.

HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy.

Mutations in NHLRC1 cause progressive myoclonus epilepsy.

Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families.

Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains.

Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.

Absence of mutations in the hypoxia response element of VEGF in ALS.

Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.

Identification of lithium-regulated genes in cultured lymphoblasts of lithium responsive subjects with bipolar disorder.

Mutational analysis of neurotensin in familial restless legs syndrome.

Analysis of CAG repeat expansions in restless legs syndrome.

Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.

CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations.

The 14q restless legs syndrome locus in the French Canadian population.

A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis.

TAU mutations are not a predominant cause of frontotemporal dementia in Canadian patients.

NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population.

A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1.

A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family.

Autosomal dominant juvenile myoclonic epilepsy and GABRA1.

CAA insertion polymorphism in the 3'UTR of Nogo gene on 2p14 is not associated with schizophrenia.

Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice.

PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions.

Restless legs syndrome: confirmation of linkage to chromosome 12q, genetic heterogeneity, and evidence of complexity.

Investigating responders to lithium prophylaxis as a strategy for mapping susceptibility genes for bipolar disorder.

Inherited occipital hypoplasia/syringomyelia in the cavalier King Charles spaniel: experiences in setting up a worldwide DNA collection.

Increased prevalence of schizophrenia spectrum disorders in relatives of neuroleptic-nonresponsive schizophrenic patients.

Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy.

Sacred disease secrets revealed: the genetics of human epilepsy.

Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts.

Cytoplasmic targeting of mutant poly(A)-binding protein nuclear 1 suppresses protein aggregation and toxicity in oculopharyngeal muscular dystrophy.

Acute adverse reactions associated with angiotensin-converting enzyme inhibitors: genetic factors and therapeutic implications.

A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors.

Clinical stringency greatly improves mutation detection in Rett syndrome.

Sacred disease secrets revealed: the genetics of human epilepsy.

Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.

Monogenic epilepsies in humans: molecular mechanisms and relevance for the study of intractable epilepsy.

Role of the neurofibromatosis type 2 gene in the development of tumors of the nervous system.

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.

Genetics of familial and sporadic amyotrophic lateral sclerosis.

Human monogenic disorders - a source of novel drug targets.

Common genetic vulnerability to depressive symptoms and coronary artery disease: a review and development of candidate genes related to inflammation and serotonin.

Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population.

The dynamism of PABPN1 nuclear inclusions during the cell cycle.

Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies.

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.

Purification of the NF2 tumor suppressor protein from human erythrocytes.

Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.

Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause.

[Mutations in SYNE-1 lead to a newly discovered form of autosomal recessive cerebellar ataxia].

Additive effects of obesity and TCF7L2 variants on risk for type 2 diabetes among cardiac patients.

Autosomal dominant primary lateral sclerosis.

Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy.

Characterization of a novel SPG3A deletion in a French-Canadian family.

Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.

Molecular genetic studies of DMT1 on 12q in French-Canadian restless legs syndrome patients and families.

A stop codon mutation in SCN9A causes lack of pain sensation.

SPG4 founder effect in French Canadians with hereditary spastic paraplegia.

Genetic association studies of neurotensin gene and restless legs syndrome in French Canadians.

No association between the DRD3 Ser9Gly polymorphism and schizophrenia.

LRRK2 is not a significant cause of Parkinson's disease in French-Canadians.

Transmission disequilibrium study of an oligodendrocyte and myelin glycoprotein gene allele in 431 families with an autistic proband.

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.

[The medical research at Sainte-Justine: to grow healthy].

ALS predisposition modifiers: knock NOX, who's there? SOD1 mice still are.

Oxidized/misfolded superoxide dismutase-1: the cause of all amyotrophic lateral sclerosis?

Genetics of familial amyotrophic lateral sclerosis.

A novel locus for idiopathic generalized epilepsy in French-Canadian families maps to 10p11.

A locus for primary lateral sclerosis on chromosome 4ptel-4p16.1.

Autosomal dominant sensory ataxia: a neuroaxonal dystrophy.

PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression.

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1.

A significant increase in breathing amplitude precedes sleep bruxism.

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.

Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish.

HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.

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.

Novel de novo SHANK3 mutation in autistic patients.

Genetic predictors of depressive symptoms in cardiac patients.

A novel mutation in a large French-Canadian family with LGMD1B.

Mutations in the calcium-related gene IL1RAPL1 are associated with autism.

Autosomal-dominant locus for Restless Legs Syndrome in French-Canadians on chromosome 16p12.1.

A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy.

The proportion of mutations predicted to have a deleterious effect differs between gain and loss of function genes in neurodegenerative disease.

MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels.

Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema.

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.

No TARDBP mutations in a French Canadian population of patients with Parkinson disease.

Recent advances in the genetics of amyotrophic lateral sclerosis.

[Mutations in the HSN2 exon of WNK1 cause hereditary sensory neuropathy type II].

Narcolepsy is strongly associated with the T-cell receptor alpha locus.

No association between SRGAP3/MEGAP haploinsufficiency and mental retardation.

A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy.

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

Global brain gene expression analysis links glutamatergic and GABAergic alterations to suicide and major depression.

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

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

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

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].

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.

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.

De novo truncating mutation in Kinesin 17 associated with schizophrenia.

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.

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.

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.