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List of works by Guy A. Rouleau

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

article

A 1.5-Mb Physical Map of the Hidrotic Ectodermal Dysplasia (Clouston Syndrome) Gene Region on Human Chromosome 13q11

article

A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia

scientific article published on 8 October 2016

A 405-kb cosmid contig and HindIII restriction map of the progressive myoclonus epilepsy type 1 (EPM1) candidate region in 21q22.3.

scientific article published on September 1995

A Founder Mutation in French-Canadian Families with X-linked Hereditary Neuropathy

scientific article published in February 2001

A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis

article by Kyota Aoyagi et al published August 2015 in Human Mutation

A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1,Maps to Chromosome 12p13 ⬇️

scientific article published on December 31, 2001

A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia

scientific article published on 01 August 2015

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia

scientific article published in July 2017

A Physiological Instability Displayed in Hippocampal Neurons Derived From Lithium-Nonresponsive Bipolar Disorder Patients

scientific article published on 04 February 2020

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

scientific article published on 16 April 2015

A Pvull RFLP at the HOX 1.4 homeobox locus (HOX1D) ⬇️

scientific article published on July 11, 1991

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia ⬇️

scientific article published on June 15, 2011

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

scientific article

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review

scientific article

A direct interaction between two Restless Legs Syndrome predisposing genes: MEIS1 and SKOR1

scientific article published in Scientific Reports

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

scientific article

A founder haplotype for autosomal dominant sensory ataxia in Eastern Canada

scientific article

A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis

scientific article

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

scientific article published on 12 September 2011

A functional myeloperoxidase polymorphic variant is associated with coronary artery disease in French-Canadians

scientific article published on 01 August 2001

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

scientific article

A genetic linkage map of the long arm of human chromosome 22.

scientific article published on January 1989

A genetic map of chromosome 1: comparison of different data sets and linkage programs

scientific article

A genome-wide association study identifies candidate loci associated to syringomyelia secondary to Chiari-like malformation in Cavalier King Charles Spaniels.

scientific article published on 22 March 2018

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

scientific article

A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.

scientific article published on 28 May 2015

A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS

scientific article published on 25 March 2009

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

scientific article published on 01 March 2008

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

scientific article published in October 2004

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

scientific article published on 28 November 2010

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

scientific article published in November 2009

A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS

scientific article published on 02 April 2019

A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.

scientific article published on 3 May 2006

A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2.

scientific article

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

scientific article published in March 2012

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

scientific article

A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13.

scientific article

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

scientific article published in November 2008

A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.

scientific article

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies

scientific article published on 12 February 2018

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

scientific article

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

article

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

scientific article published on 01 October 2004

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

scientific article published on 01 July 2008

A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1.

scientific article published in August 2004

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

scientific article published on 12 July 2014

A pilot study on upper esophageal sphincter dilatation for the treatment of dysphagia in patients with oculopharyngeal muscular dystrophy ⬇️

scientific article published on 01 October 1997

A polyalanine antibody for the diagnosis of oculopharyngeal muscular dystrophy and polyalanine-related diseases

A polymorphism in the glutamate metabotropic receptor 7 is associated with cognitive deficits in the early phases of psychosis

scientific article published on 02 July 2020

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

scientific article

A potential role for Zinc in Restless Legs Syndrome

scientific article published on 11 November 2020

A radiation hybrid map of 48 loci including the clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q

scientific article (publication date: 15 February 1999)

A rare variant in MLKL confers susceptibility to ApoE ɛ4-negative Alzheimer's disease in Hong Kong Chinese population

scientific article published on 10 March 2018

A role for ubiquilin 2 mutations in neurodegeneration ⬇️

scientific article published on October 11, 2011

A set of STS assays targeting the chromosome 22 physical framework markers

scientific article published in March 1993

A significant increase in breathing amplitude precedes sleep bruxism

scientific article published on 19 May 2008

A single-cell eQTL atlas of the human cerebellum reveals vulnerability of oligodendrocytes in essential tremor

A stop codon mutation in SCN9A causes lack of pain sensation

scientific article

A systematic evaluation of linkage studies in bipolar disorder

scientific article published on May 1996

A two basepair deletion in the SOD 1 gene causes familial amyotrophic lateral sclerosis

scientific article published on 01 November 1994

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

scientific article

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

scientific article published on 28 November 2007

ALS: Recent Developments from Genetics Studies

scientific article published on June 2016

ATXN2 trinucleotide repeat length correlates with risk of ALS.

scientific article

Abnormal activity of membrane phospholipid synthetic enzymes in the brain of patients with Friedreich's ataxia and spinocerebellar atrophy type-1.

scientific article published in March 2000

Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases

article

Absence of mutations in the Mn superoxide dismutase or catalase genes in familial amyotrophic lateral sclerosis

scientific article published on 01 January 1995

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

scientific article published on 01 December 2003

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

scientific article

Additive Effects of Obesity and TCF7L2 Variants on Risk for Type 2 Diabetes Among Cardiac Patients

scientific article published on 10 March 2007

Adenylosuccinate lyase (ADSL) and infantile autism: absence of previously reported point mutation

scientific article published in December 1995

Affected twins in the familial intracranial aneurysm study

scientific article

Alpha galactosidase A activity in Parkinson's disease

scientific article

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

scientific article published on 16 June 2008

Alsin is partially associated with centrosome in human cells

scientific article

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

scientific article published on 06 June 2013

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

scientific article

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

scientific article published on 14 November 2013

Ambulatory Goeckerman treatment of psoriasis: experience with 200 patients

scientific article

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

scientific article published on January 1, 2011

An 18 alanine repeat in a severe form of oculopharyngeal muscular dystrophy

scientific article published on 01 July 2014

AnALS2gene mutation causes hereditary spastic paraplegia in a Pakistani kindred

article

Analysis of 14 CAG repeat-containing genes in schizophrenia

scientific article published in December 1999

Analysis of CAG repeat expansions in restless legs syndrome

scientific article published in December 2003

Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease

scientific article published on 3 May 2016

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

scientific article published in August 2010

Analysis of Heterozygous PRKN Variants and Copy-Number Variations in Parkinson's Disease

scientific article published on 24 September 2020

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

scientific article published on 28 May 2013

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

scientific article published on November 11, 2010

Analysis of common and rare VPS13C variants in late-onset Parkinson disease

scientific article published on 09 January 2020

Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome

scientific article published on 17 June 2015

Analysis of oncogene expression in primary human gliomas: evidence for increased expression of the ros oncogene

scientific article

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Analysis of the Influence of microRNAs in Lithium Response in Bipolar Disorder.

scientific article published on 31 May 2018

Analysis of the KSP repeat of the neurofilament heavy subunit in familiar amyotrophic lateral sclerosis

scientific article published on 01 March 1996

Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis ⬇️

scientific article published on February 22, 2012

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

scientific article published in April 2010

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

scientific article

Analysis ofLMNB1Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

scientific article

Androgen receptor gene polymorphisms in amyotrophic lateral sclerosis

scientific article published on 01 May 1993

Anticipation in familial cavernous angioma: a study of 52 families from International Familial Cavernous Angioma Study. IFCAS Group.

scientific article

Anticipation in familial cavernous angioma: ascertainment bias or genetic cause

scientific article published in December 1998

Apolipoprotein E genotype in schizophrenia

scientific article published on 01 April 1996

Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease

article

Assessing non-Mendelian inheritance in inherited axonopathies

scientific article published on 03 August 2020

Assessing the NOTCH2NLC GGC expansion in European patients with essential tremor

scientific article published on 04 November 2020

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

scientific article published on 19 June 2013

Assessment of chromosome 22 anomalies in neurinomas by combined karyotype and RFLP analyses

scientific article published on 01 March 1990

Association and linkage studies of CRH and PENK genes in bipolar disorder: a collaborative IGSLI study

scientific article published on 01 April 2000

Association and linkage studies of candidate genes involved in GABAergic neurotransmission in lithium-responsive bipolar disorder.

scientific article

Association between 7q31 markers and Tourette syndrome

scientific article published in May 2004

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

scientific article published on 13 March 2012

Association between the methylenetetrahydrofolate reductase 677C-->T missense mutation and schizophrenia

scientific article published on 01 May 2000

Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis

article

Association of NPAS3 exonic variation with schizophrenia

scientific article published on 14 May 2010

Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study.

scientific article published on 9 November 2017

Association of intronic variants of the BTBD9 gene with Tourette syndrome

scientific article published in October 2009

Association of paraoxonase gene cluster polymorphisms with ALS in France, Quebec, and Sweden

scientific article published on 01 August 2008

Association of polygenic score for major depression with response to lithium in patients with bipolar disorder

scientific article published on 16 March 2020

Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease

scientific article published on 31 October 2020

Association study of essential tremor genetic loci in Parkinson's disease

scientific article published on 6 January 2018

Association study of the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia

scientific article

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scientific article

Author Correction: Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

scientific article published on 22 December 2020

Autism spectrum disorders associated with X chromosome markers in French-Canadian males

scientific article published in February 2006

Automated design of hammerhead ribozymes and validation by targeting the PABPN1 gene transcript

scientific article

Autosomal dominant juvenile myoclonic epilepsy and GABRA1.

scientific article published in January 2005

Autosomal dominant primary lateral sclerosis

scientific article published in April 2007

Autosomal dominant sensory ataxia: a neuroaxonal dystrophy

scientific article

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

scientific article

BDNF protein levels are decreased in transformed lymphoblasts from lithium-responsive patients with bipolar disorder.

scientific article published on September 2008

BanI polymorphism at the XBP1 locus

scientific article published on September 1990

Brain glyceraldehyde-3-phosphate dehydrogenase activity in human trinucleotide repeat disorders

scientific article published in October 1998

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

scientific article published on 01 September 2012

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

scientific article

C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder

scientific article published on 4 November 2014

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

scientific article published in January 2005

CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)

scientific article published on 01 July 2000

CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation

scientific article published on 01 August 2000

CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia

scientific article published on 17 December 2018

CCM1 gene mutations in families segregating cerebral cavernous malformations

scientific article published on 01 February 2001

CCM1 mutation screen of sporadic cases with cerebral cavernous malformations

scientific article published in April 2004

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

scientific article

CCM3 mutations are uncommon in cerebral cavernous malformations

scientific article

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 15 April 2016

CPT1A Missense Mutation Associated With Fatty Acid Metabolism and Reduced Height in Greenlanders

scientific article published on June 2017

CSCI/RCPSC Henry Friesen lecture: the past and the future of neurogenetics

scientific article published in January 2007

CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortem

scientific article published on 30 January 2018

CYP7B1 Mutations in French-Canadian Hereditary Spastic Paraplegia Subjects ⬇️

scientific article published on 01 January 2012

Calpain 1 in neurodegeneration: a therapeutic target?

scientific article

Canadian restless legs syndrome twin study.

scientific article

Case-Control and Family-Based Association Study of Specific PTPRD Variants in Restless Legs Syndrome

scientific article published on 09 January 2016

Catechol-O-methyltransferase Val-108/158-Met gene variants associated with performance on the Wisconsin Card Sorting Test

scientific article published on 01 July 2002

Cellular expression of the K+–Cl− cotransporter KCC3 in the central nervous system of mouse ⬇️

scientific article published on December 11, 2010

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy

scientific article published on 29 September 2020

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

scientific article

Characterization of a translocation within the von Recklinghausen neurofibromatosis region of chromosome 17

scientific article published on 01 August 1989

Characterization of human iPSC-derived astrocytes with potential for disease modeling and drug discovery

scientific article published on 04 May 2020

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

scientific article published in February 2010

Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34

scientific article published on 20 February 2020

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

scientific article

Chromosome 11-q24 region in Tourette syndrome: Association and linkage disequilibrium study in the French Canadian population

article

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

scientific article published on 01 October 2010

Clinical Spectrum of Amyotrophic Lateral Sclerosis (ALS).

scientific article published on 21 December 2016

Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype

scientific article published on 15 January 2020

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

scientific article

Clinical and genetic study of hereditary spastic paraplegia in Canada

scientific article published on 5 December 2016

Clinical features associated with an early onset in chronic tic disorders

scientific article published on 12 November 2015

Clinical stringency greatly improves mutation detection in Rett syndrome

scientific article

Clonal analysis of human meningiomas and schwannomas

scientific article published in November 1990

Cloning and characterization of the Ewing's sarcoma and peripheral neuroepithelioma t(11;22) translocation breakpoints

scientific article published on 01 November 1992

Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2.

scientific article

Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping

scientific article

Coexistence of dominant and recessive familial amyotrophic lateral sclerosis with the D90A Cu,Zn superoxide dismutase mutation within the same country

scientific article published on 01 March 2000

Cognitive and Psychiatric Evaluation in SYNE1 Ataxia

scientific article published on 01 August 2019

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

scientific article

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

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

scientific article

Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis

scientific article

Common variants in P2RY11 are associated with narcolepsy

scientific article

Comparative Analysis of the Expression Profile of Wnk1 and Wnk1/Hsn2 Splice Variants in Developing and Adult Mouse Tissues ⬇️

scientific article published on February 25, 2013

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

scientific article

Comparison of sequencing based CNV discovery methods using monozygotic twin quartets

scientific article published on 26 March 2015

Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family

scientific article published on 01 February 2001

Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder

scientific article published on 01 October 2020

Computerized brain tissue classification of magnetic resonance images: a new approach to the problem of partial volume artifact

scientific article

Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region

scientific article published in May 1994

Congenital Mirror Movements in a New Italian Family

scientific article published on 28 July 2014

Connexin46 mutations in autosomal dominant congenital cataract

scientific article

Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms

scientific article published on 6 January 2016

Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis

scientific article published on 17 October 2008

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

scientific article

Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

scientific article published on 17 April 2018

Correction: Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1

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

scientific article

Cross-species characterization of the ALS2 gene and analysis of its pattern of expression in development and adulthood

scientific article published in March 2005

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

scientific article published on 19 March 2010

Cyberinfrastructure for Open Science at the Montreal Neurological Institute

scientific article (publication date: 6 January 2017)

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

scientific article published in September 2005

D22S15--a fetal brain cDNA with BanII and SacI RFLP.

scientific article published on February 1988

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

scientific article

DNA hypomethylation of Synapsin II CpG islands associates with increased gene expression in bipolar disorder and major depression

scientific article

DNA linkage analysis in Von Recklinghausen neurofibromatosis

scientific article

DRD3 and DAT1 genes in schizophrenia: an association study

scientific article published on 01 July 2000

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

scientific article published on 27 November 2014

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

scientific article published on 01 October 2019

De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia

scientific article published on 10 March 2016

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

scientific article published in June 2009

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism

scientific article published on 15 January 2011

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

scientific article

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

scientific article published in February 2010

De novo mutations in moderate or severe intellectual disability

scientific article

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

scientific article published on September 25, 2012

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

scientific article

De novo truncating mutation in Kinesin 17 associated with schizophrenia

scientific article published on 19 June 2010

De novo variants in sporadic cases of childhood onset schizophrenia

scientific article published on 28 October 2015

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

scientific article published on 17 December 2013

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

scientific article

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

scientific article published on 10 April 2015

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

scientific article

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

scientific article

Deletions causing spinal muscular atrophy do not predispose to amyotrophic lateral sclerosis

scientific article

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

scientific article

Diagnosing Zygosity in Infant Twins: Physical Similarity, Genotyping, and Chorionicity

scientific article published in December 2003

Diagnosing zygosity in infant twins: physical similarity, genotyping, and chorionicity

scientific article published in December 2003

Different gene loci for hyperkalemic and hypokalemic periodic paralysis ⬇️

scientific article published on 01 January 1991

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

scientific article published on 17 June 2013

Dinucleotide repeat polymorphism at the D21S219 locus which flanks the GARS-AIRS-GART gene

scientific article published on December 1, 1992

Dinucleotide repeat polymorphism at the D21S370 locus which flanks the PRGS (GARS)-PAIS (AIRS)-PGFT (GART) gene

scientific article published in May 1993

Dinucleotide repeat polymorphism at the D21S65 locus

scientific article published on August 1, 1992

Dinucleotide repeat polymorphism at the D22S264 locus ⬇️

scientific article published on March 25, 1992

Dinucleotide repeat polymorphism at the IGF2R locus ⬇️

scientific article published on February 25, 1992

Dinucleotide repeat polymorphism at the human CRYB2 gene locus (22q11.2).

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Dissection of genetic factors associated with amyotrophic lateral sclerosis

scientific article published on 26 April 2014

Distal truncation of KCC3 in non-French Canadian HMSN/ACC families

scientific article

Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene

scientific article published in April 2000

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

scientific article

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

scientific article

Dopaminergic neurotransmission and restless legs syndrome: a genetic association analysis

scientific article

Dynamics of microtubules and their associated proteins: Recent insights and clinical implications

scientific article published in November 2016

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy

scientific article published on 18 April 2017

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

scientific article

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

scientific article

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

scientific article

Early influence of the rs4675690 on the neural substrates of sadness

scientific article published on 31 July 2011

Effect of tryptophan hydroxylase-2 gene variants on suicide risk in major depression

scientific article published on 09 January 2007

Endoplasmic reticulum lipid rafts and upper motor neuron degeneration ⬇️

scientific article published on 01 October 2012

Epigenetic regulation of synapsin genes in mood disorders

scientific article published on January 2013

Epistasis analysis links immune cascades and cerebral amyloidosis

scientific article

Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting

scientific article

Erratum: Common variants in P2RY11 are associated with narcolepsy

scholarly article published in Nature Genetics

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

scholarly article published in Nature Genetics

Establishing a Canadian Registry of Patients with Amyotrophic Lateral Sclerosis ⬇️

scientific article published on January 1, 2013

Evidence for a genetic association between monoamine oxidase A and restless legs syndrome

scientific article published in July 2002

Evidence for a role of phospholipase C-gamma1 in the pathogenesis of bipolar disorder

scientific article published on 01 November 1998

Evidence for the existence of a fourth dominantly inherited spinocerebellar ataxia locus

article

Evolution of a Human-Specific Tandem Repeat Associated with ALS

scientific article published on 26 July 2020

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

scientific article

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

scientific journal article

Exome sequencing as a diagnostic tool for pediatric-onset ataxia

scientific article published in January 2014

Exome sequencing identifies FUS mutations as a cause of essential tremor

scientific article

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum

scientific article published on 22 July 2015

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

scientific article published on 19 February 2015

Exome sequencing in genetic disease: recent advances and considerations

scientific article published on 06 May 2020

Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males

article

Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum

scientific article

Exome sequencing reveals SPG11 mutations causing juvenile ALS

scientific article published on 10 December 2011

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

scientific article published on 27 February 2018

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

scientific article published on 22 October 2014

Exome-wide rare variant analysis in familial essential tremor

scientific article published on 24 November 2020

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

scientific article published on 14 February 2012

Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project

scientific article published on 07 November 2020

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

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

scientific article published on 01 March 2012

Expression of schwannomin in lens and Schwann cells ⬇️

scientific article published on May 27, 1997

FET proteins regulate lifespan and neuronal integrity

scientific article published on 27 April 2016

FOXP1-related intellectual disability syndrome: a recognisable entity

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

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Familial ALS: less common than we think? ⬇️

scientific article published on July 11, 2012

Familial amyotrophic lateral sclerosis

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Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families

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Familial congenital mirror movements: report of a large 4-generation family

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Familial intracranial aneurysms: is anatomic vulnerability heritable?

scientific article published on 29 November 2012

Familial meningioma is not allelic to neurofibromatosis 2

scientific article published on 01 October 1993

Familial spastic paraplegia: clinical observations and genetic studies.

scientific article published in January 1989

Family density of alcoholism and linkage information in the analysis of the COGA data

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

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

scientific article published on 18 October 2014

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

scientific article published on 17 September 2013

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

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Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies

scientific article published on 12 February 2020

Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22.

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Fluorodopa and raclopride PET analysis of patients with Machado-Joseph disease ⬇️

scientific article published on October 1, 1997

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

scientific article published in May 2010

Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients ⬇️

scientific article published on 01 September 1997

Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder

scholarly article by Jiao Li et al published July 2018 in Movement Disorders

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

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

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Functional variants of POC5 identified in patients with idiopathic scoliosis

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Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma

scientific article published on 23 June 2017

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

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GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis

scientific article published on 08 September 2016

GBA variants in REM sleep behavior disorder: a multicenter study

scientific article published on 26 June 2020

GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores.

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

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Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia

scientific article published on 27 February 2016

Gamma-glutamyl transferase locus (GGT) displays a PvuII polymorphism

scientific article published on December 1988

Gender equality in Machado–Joseph disease

Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours

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Gene linkage in familial amyotrophic lateral sclerosis: a progress report.

scientific article published in January 1991

Gene set enrichment analysis and expression pattern exploration implicate an involvement of neurodevelopmental processes in bipolar disorder

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

scientific article published in April 2009

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

scientific article published on 27 June 2012

Genetic analysis of the FUS/TLS gene in essential tremor

scientific article published on November 2012

Genetic and Clinical Predictors of Deep Brain Stimulation in Young-Onset Parkinson's Disease

scientific article published on 18 January 2016

Genetic and epidemiological characterization of restless legs syndrome in Québec

scientific article published on 30 October 2019

Genetic and epidemiological study of adult ataxia and spastic paraplegia in eastern Quebec

scientific article published on 05 January 2021

Genetic and epigenetic studies of amyotrophic lateral sclerosis

scientific article published on May 2013

Genetic architecture and adaptations of Nunavik Inuit

scientific article published on 22 July 2019

Genetic association signal near NTN4 in Tourette syndrome

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

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Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22

scientific article published in Nature

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

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Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22

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Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12

scientific article published on 01 June 1996

Genetic markers of Restless Legs Syndrome in Parkinson disease

scientific article published on 17 March 2015

Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease

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Genetic predictors of depressive symptoms in cardiac patients

scientific article published on April 2009

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

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Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review

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Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review

scientific article published on 28 May 2018

Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study

scientific article published on 21 January 2016

Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies

scientific article published on 18 November 2019

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

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Genetics of Intracranial Aneurysms

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

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Genetics of familial ALS and consequences for diagnosis. French ALS Research Group

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Genetics of familial amyotrophic lateral sclerosis

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Genetics of familial and sporadic amyotrophic lateral sclerosis

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Genetics of motor neuron disorders: new insights into pathogenic mechanisms

scientific article published on 13 October 2009

Genetics of restless legs syndrome

scientific article published on 12 November 2016

Genetics of schizophrenia: from animal models to clinical studies

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Genetics, prognosis and therapy of central nervous system tumors.

scientific article published in January 1994

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

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Genome screen in familial intracranial aneurysm

Genome screen to detect linkage to intracranial aneurysm susceptibility genes: the Familial Intracranial Aneurysm (FIA) study

scientific article

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

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

scientific article published in January 2010

Genome-wide analysis implicates microRNAs and their target genes in the development of bipolar disorder

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Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population

scientific article published on 12 March 2018

Genome-wide association study identifies 30 loci associated with bipolar disorder.

scientific article

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

scientific article published on 23 March 2020

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

scientific journal article

Genome-wide association study in FTD: divide to conquer

Genome-wide association study in essential tremor identifies three new loci

scientific article published on 20 October 2016

Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder

scientific article

Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder

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Genome-wide association study of Tourette's syndrome

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Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia

scientific article published on 20 June 2017

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

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Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

scientific article published on 16 November 2020

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

scientific article published in June 2021

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions

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

scientific article (publication date: 11 March 2014)

Genome-wide estimates of heritability and genetic correlations in essential tremor

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Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

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Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3.

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Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

scientific article published on 26 October 2017

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

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Global characterization of copy number variants in epilepsy patients from whole genome sequencing

scientific article published on 12 April 2018

Glucocerebrosidase Mutations in a French-Canadian Parkinson's Disease Cohort ⬇️

scientific article published on September 1, 2011

Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations

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Glucocorticoid excess induces preferential depletion of myosin in denervated skeletal muscle fibers

scientific article published on 01 June 1987

Greater rupture risk for familial as compared to sporadic unruptured intracranial aneurysms

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Guinea pig bronchus as a model for icosanoid studies

scientific article published in December 1987

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

scientific article published on 9 May 2012

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

scientific article published on 19 June 2008

Harnessing genomics to identify environmental determinants of heritable disease

journal article published in 2013

Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

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

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Hereditary ataxias, spastic parapareses and neuropathies in Eastern Canada

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Hereditary motor and sensory neuropathy with agenesis of the corpus callosum

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Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait

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Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group

scientific article published on June 1996

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia

scientific article published on 16 October 2019

Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder

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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

scientific article published in November 2017

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

scientific article (publication date: August 2003)

Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease

scientific article published on 01 July 1999

Human copy number variants are enriched in regions of low mappability

Human copy number variants are enriched in regions of low mappability

Human monogenic disorders - a source of novel drug targets

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Hyperekplexia and the alpha1 subunit glycine receptor gene (GLRA1)

scientific article published on 01 September 1996

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

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

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Identification of Novel Genes Involved in Migraine ⬇️

scientific article published on October 1, 2012

Identification of Six Novel SOD1 Gene Mutations in Familial Amyotrophic Lateral Sclerosis ⬇️

scientific article published on August 1, 1998

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

scientific article published on December 16, 2010

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

scientific article published on 7 August 2014

Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q.

scientific article

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

scientific article

Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia

scientific article published on 07 August 2015

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

scientific article

Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing

scientific article published on 8 March 2018

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

scientific article

Identification of genetic variants of LGI1 and RTN4R (NgR1) linked to schizophrenia that are defective in NgR1-LGI1 signaling

scientific article published on 11 March 2016

Identification of informative strains and provisional QTL mapping of amphetamine (AMPH)-induced locomotion in recombinant congenic strains (RCS) of mice

scientific article published on 19 May 2006

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

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Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.

scientific article published on March 1995

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis

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Identification of novelFUSmutations in sporadic cases of amyotrophic lateral sclerosis ⬇️

scientific article published on January 24, 2011

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

scientific article published on 22 April 2015

Identification of shared risk loci and pathways for bipolar disorder and schizophrenia

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Identification of three polymorphisms in the translated region of PLC-gamma1 and their investigation in lithium responsive bipolar disorder.

scientific article

ImmunoChip study implicates antigen presentation to T cells in narcolepsy

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Impact of genotyping errors on the type I error rate and the power of haplotype-based association methods

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Implication of SSAT by gene expression and genetic variation in suicide and major depression

scientific article published on 01 January 2006

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

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Increased Prevalence of Non-motor Symptoms in Essential Tremor

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Increased exonic de novo mutation rate in individuals with schizophrenia

scientific article published on 10 July 2011

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

scientific article published on 26 May 2015

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

scientific article published on 01 September 2005

Inherited cavernous malformations of the central nervous system: clinical and genetic features in 19 Swiss families

scientific article published on 17 September 2009

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

scientific article published on 15 June 2005

Inhibition of the kinase WNK1/HSN2 ameliorates neuropathic pain by restoring GABA inhibition

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Instability of the EPM1 minisatellite

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

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Intellectual disability without epilepsy associated with STXBP1 disruption

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Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies

scientific article published on 01 March 2019

Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2).

scientific article published in October 2002

Investigating polygenic burden in age at disease onset in bipolar disorder: Findings from an international multicentric study

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

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Investigating the association and causal relationship between restless legs syndrome and essential tremor

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

scientific article published on 26 February 2013

Investigation of C9orf72 repeat expansions in Parkinson's disease ⬇️

scientific article published on December 27, 2012

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

scientific article published on 20 February 2013

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

scientific article published on 22 November 2019

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

scientific article published on 27 August 2003

Is lithium response related to G(s)alpha levels in transformed lymphoblasts from subjects with bipolar disorder?

scientific article

Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3.

scientific article

Isolation and genomic structure of a human homolog of the yeast periodic tryptophan protein 2 (PWP2) gene mapping to 21q22.3

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Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome

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Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

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K-Cl cotransport in red blood cells from patients with KCC3 isoform mutants

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KCC3 axonopathy: neuropathological features in the central and peripheral nervous system

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KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects

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KCNA2 mutations are rare in hereditary spastic paraplegia

scientific article published on 26 December 2016

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

scientific article

Kinin-dependent hypersensitivity reactions in hemodialysis: metabolic and genetic factors

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Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation

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LINGO1 variants in the French-Canadian population

scientific article (publication date: 11 January 2011)

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

scientific article published on 01 August 2007

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

scientific article published on 5 May 2015

LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder

scientific article published on 21 March 2018

Lack of association between bipolar disorder and tyrosine hydroxylase ⬇️

scientific article published on July 25, 1997

Lack of association between the hSKCa3 channel gene CAG polymorphism and schizophrenia

scientific article published on 01 April 1999

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

scientific article published on August 17, 2011

Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic

scientific article published on 20 April 2022

Limits of clinical assessment in the accurate diagnosis of Machado-Joseph disease

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Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17

scientific article published on 01 December 1987

Linkage analysis of the nail-patella syndrome

scientific article published on January 1995

Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity

scientific article published on 01 May 1991

Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause

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

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

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Lithium response and genetic variation in the CREB family of genes

scientific article published on June 2008

Lithium responsive bipolar disorder, unilineality, and chromosome 18: A linkage study

scientific article published on 01 August 1999

Lithium-responsive affective disorders: no association with the tyrosine hydroxylase gene

scientific article published on 01 September 1996

Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome

scientific article published on July 1990

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

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Loss of heterozygosity on chromosome 22 in human gliomas does not inactivate the neurofibromatosis type 2 gene

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Loss of heterozygosity on the long arm of chromosome 22 in pheochromocytoma ⬇️

scientific article published on November 1, 1992

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.

scientific article published in March 2012

Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.

scientific article published on 8 September 2016

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

scientific article published on 24 March 2015

Loss-of-function genetic diseases and the concept of pharmaceutical targets

MAOA: association and linkage studies with lithium responsive bipolar disorder

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MEIS1 and Restless Legs Syndrome: A Comprehensive Review

scientific article published on 28 August 2019

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

scientific article published on 06 January 2009

Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus

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Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia

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Mapping of human chromosome 22 by in situ hybridization.

scientific article published on July 1990

Mapping of human chromosome 22 with a panel of somatic cell hybrids

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Mapping of human gamma-glutamyl transpeptidase genes on chromosome 22 and other human autosomes

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Mapping susceptibility genes for bipolar disorder: a pharmacogenetic approach based on excellent response to lithium

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Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles

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Mechanisms Underlying the Hyperexcitability of CA3 and Dentate Gyrus Hippocampal Neurons Derived From Patients With Bipolar Disorder

scientific article published on 01 October 2019

Mesocorticolimbic Connectivity and Volumetric Alterations in DCC Mutation Carriers

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

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

scientific article published on 09 August 2011

Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression

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Minimal expansion of the GCG repeat in the PABP2 gene does not predispose to sporadic inclusion body myositis

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Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia

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

scientific article published on 4 October 2013

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

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Modeling the phenotype in parametric linkage analysis of bipolar disorder

scientific article published on 01 January 1997

Models for inherited susceptibility to cancer in the nervous system: a molecular-genetic approach to neurofibromatosis

scientific article published on January 1987

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

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

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

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Molecular aspects of hereditary spastic paraplegia

scientific article published on 11 March 2014

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

scientific article published in August 2003

Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization

scientific article published on 01 January 1994

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

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Molecular genetics of neurofibromatosis 2 and related tumors (acoustic neuroma and meningioma).

scientific article published on January 1991

Molecular, Cellular, and Genetic Determinants of Sporadic Brain Arteriovenous Malformations

scientific article published on August 2016

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

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Mortality and causes of death in the Familial Intracranial Aneurysm study

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Multimodal neuroimaging analysis in patients with SYNE1 Ataxia

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Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor

scientific article published on 06 April 2020

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

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Mutated GABA(A) receptor subunits in idiopathic generalized epilepsy ⬇️

scientific article published on July 13, 2012

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients ⬇️

scientific article published on October 10, 2012

Mutation burden of rare variants in schizophrenia candidate genes

scientific article published on 3 June 2015

Mutation detection in Machado-Joseph disease using repeat expansion detection

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

scientific article (publication date: June 2002)

Mutation screening of FOXP2 in individuals diagnosed with autistic disorder

scientific article (publication date: 15 April 2003)

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

scientific article (publication date: December 2003)

Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy

scientific article published on 01 August 2000

Mutational analysis of 206 families with cavernous malformations

scientific article published in July 2003

Mutational analysis of neurotensin in familial restless legs syndrome

scientific article published in January 2004

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

scientific article (publication date: November 2002)

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

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Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

scientific article published on June 2016

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

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Mutations in DCC cause congenital mirror movements

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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

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Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness

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Mutations in FUS cause FALS and SALS in French and French Canadian populations

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Mutations in GJB6 cause hidrotic ectodermal dysplasia

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

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Mutations in NHLRC1 cause progressive myoclonus epilepsy

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

scientific article published on 01 March 2007

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

scientific article published on 10 December 2006

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

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Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

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Mutations in TMEM231 cause Joubert syndrome in French Canadians

scientific article published on 25 September 2012

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

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Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

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Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

scientific article (publication date: 27 February 2009)

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

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

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

scientific article published on 18 September 2008

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

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Mutations in the netrin-1 gene cause congenital mirror movements

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My Journey to Open Science

scientific article published on 30 March 2020

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

scientific article published in January 2003

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

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

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Neural function in DCC mutation carriers with and without mirror movements

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Neurocysticercosis: surgical and medical management with praziquantel

scientific article published in April 1986

Neurofibromatosis 2 tumor suppressor protein colocalizes with ezrin and CD44 and associates with actin-containing cytoskeleton ⬇️

scientific article published on September 1, 1997

Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred

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

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

scientific article published on January 15, 2002

Newborn apnea caused by a neurofibroma at the craniocervical junction

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No CCM2 mutations in a cohort of 31 sporadic cases

scientific article published on 01 November 2004

No Effect on SOD1 Splicing by TARDP or FUS Mutations ⬇️

scientific article published on March 1, 2011

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

scientific article published in February 2009

No association between SRGAP3/MEGAP haploinsufficiency and mental retardation.

scientific article published in May 2009

No association between the DRD3 Ser9Gly polymorphism and schizophrenia

scientific article published on 14 August 2007

No association between the PREP gene and lithium responsive bipolar disorder

scientific article published on 26 February 2007

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

scientific article

No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor

scientific article published on 19 October 2017

Non-invasive prenatal aneuploidy testing: Critical diagnostic performance parameters predict sample z-score values

scientific article published on 27 June 2018

Novel Associations of <i>BST1</i> and <i>LAMP3</i> with Rapid Eye Movement Sleep Behavior Disorder

scientific article published on 04 January 2021

Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis

scientific article published in May 2012

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

scientific article

Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family

scientific article published on 11 August 2015

Novel de novo SHANK3 mutation in autistic patients

scientific article

Novel integrative genomic tool for interrogating lithium response in bipolar disorder.

scientific article published on 3 February 2015

Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA

scientific article (publication date: 22 September 2000)

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

scientific article published on 28 July 2014

Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene

scientific article published in November 2000

Oculopharyngeal muscular dystrophy

scientific article

Oculopharyngeal muscular dystrophy: What's new?

scientific article

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

scientific article published on 11 October 2006

Oligogenicity, C9orf72 expansion, and variant severity in ALS

scientific article published on 08 May 2020

Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death ⬇️

scientific article (publication date: October 2001)

Oncogenes and glial tumors

scientific article published on January 1, 1992

Open Science at an institutional level: an interview with Guy Rouleau

scientific article (publication date: 20 January 2017)

Oppositional behavior and longitudinal predictions of early adulthood mental health problems in chronic tic disorders

scientific article published on 16 March 2018

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

scientific article published on December 2007

PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy

scientific article published on 01 November 2000

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

scientific article published on April 2005

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

scientific article published on 23 February 2008

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

scientific article

POLR3A variants in hereditary spastic paraplegia and ataxia

scientific article published on 8 December 2017

PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome

scientific article published on 27 July 2008

Parental origin of chromosome 22 alleles lost in meningioma

scientific article published in November 1990

Parent–child exome sequencing identifiesa de novo truncating mutation in TCF4 in non‐syndromic intellectual disability ⬇️

scientific article published on June 4, 2012

Parkinson's Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder.

scientific article published on May 2015

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

scientific article published in October 2013

Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals

scientific article

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia

scientific article published on 28 March 2019

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

scientific article published on July 13, 2011

Patients with familial biparental hydatidiform moles have normal methylation at imprinted genes

scientific article published on 01 April 2005

Patterns of gene expression in the limbic system of suicides with and without major depression

scientific article published on 13 March 2007

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

scientific article published on 25 April 2012

Polyglutamine coding genes in bipolar disorder: lack of association with selected candidate loci

scientific article published on 01 April 2000

Polyglutamine tracts: no evidence of a major role in bipolar disorder

scientific article published on 01 May 1999

Polyglutamine-containing proteins in schizophrenia.

scientific article published on January 1999

Polymorphism in the cell division cycle 45 like gene and schizophrenia

scientific article published on 01 March 2001

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

scientific article published on September 30, 2003

Postural control anomalies in children with Tourette syndrome

scientific article published on 7 March 2007

Potassium-Chloride Cotransporter 3 Interacts with Vav2 to Synchronize the Cell Volume Decrease Response with Cell Protrusion Dynamics ⬇️

scientific article published on May 28, 2013

Prediction of level of serotonin 2A receptor binding by serotonin receptor 2A genetic variation in postmortem brain samples from subjects who did or did not commit suicide

scientific article

Prenatal diagnosis of Machado–Joseph disease by direct mutation analysis

scholarly article by Jorge Sequeiros et al published June 1998 in Prenatal Diagnosis

Probing the lithium-response pathway in hiPSCs implicates the phosphoregulatory set-point for a cytoskeletal modulator in bipolar pathogenesis.

scientific article

Progress in understanding the pathogenesis of oculopharyngeal muscular dystrophy.

scientific article

Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study

scientific article published on 23 June 2019

Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene

scientific article published on 10 December 2013

Purification of the NF2 tumor suppressor protein from human erythrocytes

scientific article published on 01 November 2006

Quantitative Analysis of Climbing Defects in a Drosophila Model of Neurodegenerative Disorders

scientific article

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

scientific article

RIC3 variants are not associated with Parkinson's disease in French-Canadians and French

scientific article

RNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement

scientific article published on 15 February 2019

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population

scientific article published on 30 September 2016

Rapid EEG Activity during Sleep Dominates in Mild Traumatic Brain Injury Patients with Acute Pain ⬇️

scientific article published on April 18, 2013

Rapid isolation of cosmids from defined subregions by differential Alu-PCR hybridization on chromosome 22-specific library

scientific article published in June 1992

Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome

scientific article published on June 2017

Rare Variants in Complex Traits: Novel Identification Strategies and the Role of de novo Mutations ⬇️

scientific article published on January 1, 2012

Rare deleterious variants in GRHL3 are associated with human spina bifida

scientific article

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.

scientific article published on 15 November 2011

Rare susceptibility variants for bipolar disorder suggest a role for G protein-coupled receptors.

scientific article published on 21 November 2017

Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder

scientific article published on 5 August 2005

Reassessing GWAS findings for the shared genetic basis of insomnia and restless legs syndrome

scientific article published on 01 November 2018

Recent advances in the genetics of amyotrophic lateral sclerosis

scientific article published on May 2009

Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders

scientific article published on 01 January 2011

Recent studies on oculopharyngeal muscular dystrophy in Québec ⬇️

scientific article published on 01 October 1997

Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor

scientific article published on 01 December 1998

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

scientific article published on 26 September 2013

Recessive mutations in VPS13D cause childhood-onset movement disorders

scientific article published on 8 March 2018

Recombinant congenic strains derived from A/J and C57BL/6J: a tool for genetic dissection of complex traits

scientific article published in May 2001

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease

scientific article

Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy

scientific article published on 01 October 1993

Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family

scientific article published on 01 February 2000

Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia

scientific article

Reliability and correlation of mixture cell correction in methylomic and transcriptomic blood data

scientific article published on 12 February 2020

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

scientific article published on 28 September 2015

Reply to Kock et al.

scientific article published in July 2002

Reply to van Vught et al.: P413L CHGB as risk factor for ALS.

scientific article published on 29 April 2010

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

scientific article published on 10 January 2011

Resolution of nuclear ground and isomeric states by a Penning trap mass spectrometer

scientific article published on 01 December 1992

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

scientific article published on 4 December 2013

Response to treatment in bipolar disorder

scientific article published on January 2011

Restless leg syndrome: clinical aspects, etiology and genetic factors

scientific article published on December 1, 2002

Restless legs in Tourette syndrome

scientific article published on 01 September 2004

Restless legs syndrome mothers and attention–deficit/hyperactivity disorder children: What happened between them? ⬇️

scientific article published on September 17, 2010

Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis

scientific article published on 27 June 2011

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

scientific article

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

scientific article published on 25 February 2016

Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts

scientific article

Risk factors for suicide completion in major depression: a case-control study of impulsive and aggressive behaviors in men.

scientific article published in November 2005

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

scientific article published on 15 November 2005

SCARB2 variants and glucocerebrosidase activity in Parkinson's disease

scientific article published on 10 March 2016

SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome

scientific article published on 22 June 2020

SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease

scientific article published on 20 February 2019

SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder

scientific article published on 18 April 2020

SOD1 Mutations: More to Learn ⬇️

scientific article published on 01 March 2012

SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis

scientific article published in January 1996

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

scientific article published on 24 June 2010

SPG4 founder effect in French Canadians with hereditary spastic paraplegia.

scientific article published in May 2007

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

scientific article published on 2 December 2015

SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia

scientific article published on 12 September 2019

STin2 variant and family history of suicide as significant predictors of suicide completion in major depression

scientific article published on 25 August 2005

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

scientific article published on 25 March 2011

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

scientific article published on 15 August 2013

SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients

scientific article

SYNE1 mutations in autosomal recessive cerebellar ataxia

scientific article

Sacred disease secrets revealed: the genetics of human epilepsy

scientific article

Schizophrenia and chromosome 6p.

scientific article published on April 1997

Schizophrenia genetics: putting all the pieces together

scientific article published on June 2012

Schwannomin: new insights into this member of the band 4.1 superfamily

scientific article published on September 1995

Screening for germ-line mutations in the NF2 gene

scientific article published in February 1995

Screening of novel restless legs syndrome-associated genes in French-Canadian families

article

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

scientific article published on 5 February 2011

Sequencing of the GBA coactivator, Saposin C, in Parkinson disease

scholarly article by Bouchra Ouled Amar Bencheikh et al published 2 July 2018 in Neurobiology of Aging

Sex-dependent effects of chromogranin B P413L allelic variant as disease modifier in amyotrophic lateral sclerosis

scientific article

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy ⬇️

scientific article published on February 1, 1998

Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1.

scientific article published on 7 April 2008

Sleep disorders and Parkinson disease; lessons from genetics

scientific article published on 31 January 2018

Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy

scientific article

Somatic expansion of the hexanucleotide repeat does not occur in ALS spinal cord tissues

Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease

scientific article published in August 1996

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

scientific article published on 3 July 2009

Spastic Paraplegia 8

scientific article published on 25 July 2013

Special relativity and the single antiproton: Fortyfold improved comparison of p-bar and p charge-to-mass ratios

scientific article published on 01 May 1995

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

scientific article (publication date: February 2002)

Spinobulbar muscular atrophy can mimic ALS: The importance of genetic testing in male patients with atypical ALS ⬇️

scientific article published on August 1, 1997

Spinocerebellar ataxia type 6: Evidence for a strong founder effect among German families

article

Stress, Cortisol and NR3C1 in At-Risk Individuals for Psychosis: A Mendelian Randomization Study

scientific article published on 10 July 2020

Successful treatment of psychosis in a patient with Kufor-Rakeb syndrome with low dose aripiprazole: a case report

scientific article published on 24 June 2019

Suicide and serotonin: study of variation at seven serotonin receptor genes in suicide completers

scientific article published in April 2003

Suicide and the serotonin transporter gene

scientific article published in March 2001

Superoxide dismutase activity in lymphoblastoid cells from motor neurone disease/amyotrophic lateral sclerosis (MND/ALS) patients ⬇️

scientific article published on May 1, 1995

Superoxyde dismutase 1 gene abnormalities in familial amyotrophic lateral sclerosis: phenotype/genotype correlations. The French experience and review of the literature

scientific article (publication date: 2004)

Sweat gland vacuoles in Unverricht-Lundborg disease: a clue to diagnosis?

scientific article published on 01 December 1994

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

scientific article

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

scientific article published on 18 May 2010

Systematic review of autosomal recessive ataxias and proposal for a classification

scientific article published on 23 February 2017

T102C polymorphism in the 5HT2A gene and schizophrenia: relation to phenotype and drug response variability

scientific article

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

scientific article published on January 21, 2011

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

scientific article published on 29 April 2013

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

scientific article (publication date: May 2008)

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

scientific article published on 01 August 2004

TOX3 Variants Are Involved in Restless Legs Syndrome and Parkinson's Disease with Opposite Effects

scientific article

TPH and suicidal behavior: a study in suicide completers

scientific article published in January 2001

Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations

scientific article published on 22 December 2020

Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population

scientific article published on 3 February 2017

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

scientific article

The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force

scientific article published on 01 December 2019

The Cu/Zn superoxide dismutase gene in ALS and Parkinsonism-dementia of Guam

scientific article published on 31 October 2006

The Cu/Zn superoxide dismutase gene in ALS and parkinsonism-dementia of Guam

scientific article

The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane ⬇️

scientific article published on August 1, 1998

The FUS about arginine methylation in ALS and FTLD ⬇️

scientific article published on October 19, 2012

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

scientific article

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

scientific article (publication date: November 2002)

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

scientific article published on 8 April 2016

The Neuropathology of CAG Repeat Diseases: Review and Update of Genetic and Molecular Features ⬇️

scientific article published on July 1, 1997

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

The Puzzle of Huntington Disease Phenocopies

scientific article

The Quebec Parkinson Network: A Researcher-Patient Matching Platform and Multimodal Biorepository

scientific article published on 01 January 2020

The Tanenbaum Open Science Institute: Leading a Paradigm Shift at the Montreal Neurological Institute

scientific article published on August 2017

The case for locus-specific databases

scientific article published on 04 May 2011

The dementia-associated APOE ε4 allele is not associated with rapid eye movement sleep behavior disorder

scientific article

The dynamism of PABPN1 nuclear inclusions during the cell cycle

scientific article published on 24 July 2006

The effect of genetic variation of the serotonin 1B receptor gene on impulsive aggressive behavior and suicide

scientific article

The emerging role of SMPD1 mutations in Parkinson's disease: Implications for future studies

scientific article

The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings

scientific article (publication date: September 2003)

The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q

scientific article

The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q

scientific article published in January 1996

The genetic landscape of infantile spasms

article

The glycinamide ribonucleotide transformylase (GART) gene is not responsible for familial amyotrophic lateral sclerosis

scientific article published on 01 March 1993

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

scientific article

The molecular biology of human glial tumors

scientific article published on January 1988

The mouse homologue of the neurofibromatosis type 2 gene is highly conserved

scientific article published on January 1994

The mouse neurofibromatosis type 2 gene maps to chromosome 11.

scientific article published in May 1994

The neuroepithelioma breakpoint on chromosome 22 is proximal to the meningioma locus

scientific article published on 01 January 1990

The neurofibromatosis type 2 gene is inactivated in schwannomas

scientific article

The neurofibromatosis type 2 gene product, schwannomin, suppresses growth of NIH 3T3 cells

scientific article published on June 1995

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13

scientific article

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

scientific article published on July 8, 2011

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

scientific article published on 01 March 2009

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

scientific article

The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder

scientific article published on 06 April 2016

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

scientific article published in February 2007

Tourette syndrome and dopaminergic genes: a family-based association study in the French Canadian founder population

scientific article published in March 2004

Toward Precision Medicine: TBC1D4 Disruption Is Common Among the Inuit and Leads to Underdiagnosis of Type 2 Diabetes

scientific article published on 25 August 2016

Transcriptome sequencing of the anterior cingulate in bipolar disorder: dysregulation of G protein-coupled receptors

scientific article published on 04 August 2015

Transcriptome-wide association study for restless legs syndrome identifies new susceptibility genes

scientific article published on 10 July 2020

Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes

scientific article published on 01 October 2019

Transcriptomic Changes Resulting From STK32B Overexpression Identify Pathways Potentially Relevant to Essential Tremor

scientific article published on 31 July 2020

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

scientific article (publication date: April 2005)

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

scientific article published on 31 May 2011

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

scientific article published on 19 August 2007

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

scientific article published in June 2019

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

scientific article

Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease

scientific article

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

scientific article published on 03 May 2012

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

scientific article

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

scientific article

Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

scientific article

Using the full power of linkage analysis in 11 French Canadian families to fine map the oculopharyngeal muscular dystrophy gene ⬇️

scientific article published on 01 October 1997

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

scientific article published on 18 August 2015

VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families

scientific article

Valproic acid is protective in cellular and worm models of oculopharyngeal muscular dystrophy

Vanishing white matter disease in French-Canadian patients from Quebec

scientific article

Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease

scientific article published on 08 April 2020

Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis

scientific article published on 01 October 1994

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

scientific article

Varicella-zoster virus DNA in CSF and arteries in delayed contralateral hemiplegia: evidence for viral invasion of cerebral arteries

scientific article published in August 1996

Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31

scientific article

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

scientific article published on October 2011

Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma

scientific article

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

scientific article

Where are the missing pieces of the schizophrenia genetics puzzle?

scientific article

Whole exome sequencing identifies novel predisposing genes in neural tube defects

article

Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort

scientific article published on 30 May 2019

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

scientific article

Wolfram syndrome and suicide: Evidence for a role of WFS1 in suicidal and impulsive behavior ⬇️

scientific article published on May 15, 2003

[Severe neuropathy with agenesis of the corpus callosum]

scientific article published on 01 April 2003

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

scientific article published on 01 November 2007

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