Montreal Neurological Institute and Hospital
Guy Rouleau has not added Biography.
If you are Guy Rouleau and would like to personalize this page please email our Author Liaison for assistance.
A mutation that creates a pseudoexon in SOD1 causes familial ALS.
Annals of human genetics Nov, 2009 | Pubmed ID: 19847927
Somatosensory-motor bodily representation cortical thinning in Tourette: effects of tic severity, age and gender.
Cortex; a journal devoted to the study of the nervous system and behavior Jun, 2010 | Pubmed ID: 19733347
Association of intronic variants of the BTBD9 gene with Tourette syndrome.
Archives of neurology Oct, 2009 | Pubmed ID: 19822783
Genetics of motor neuron disorders: new insights into pathogenic mechanisms.
Nature reviews. Genetics Nov, 2009 | Pubmed ID: 19823194
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.
BMC genomics , 2009 | Pubmed ID: 19917086
Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo.
Human molecular genetics Feb, 2010 | Pubmed ID: 19959528
Analysis of DPP6 and FGGY as candidate genes for amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases Aug, 2010 | Pubmed ID: 20001489
Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis.
Proceedings of the National Academy of Sciences of the United States of America Dec, 2009 | Pubmed ID: 20007371
Characterization of sirtuin inhibitors in nematodes expressing a muscular dystrophy protein reveals muscle cell and behavioral protection by specific sirtinol analogues.
Journal of medicinal chemistry Feb, 2010 | Pubmed ID: 20041717
Genome-wide TDT analysis in French-Canadian families with Tourette syndrome.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques Jan, 2010 | Pubmed ID: 20169783
[De novo mutations in SYNGAP1 associated with non-syndromic mental retardation].
Médecine sciences : M/S Feb, 2010 | Pubmed ID: 20188038
The relationship between smoking and replicated sequence variants on chromosomes 8 and 9 with familial intracranial aneurysm.
Stroke; a journal of cerebral circulation Jun, 2010 | Pubmed ID: 20190001
Cross-talk between canonical Wnt signaling and the sirtuin-FoxO longevity pathway to protect against muscular pathology induced by mutant PABPN1 expression in C. elegans.
Neurobiology of disease Jun, 2010 | Pubmed ID: 20227501
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.
Proceedings of the National Academy of Sciences of the United States of America Apr, 2010 | Pubmed ID: 20385823
Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis.
Archives of neurology Apr, 2010 | Pubmed ID: 20385924
Mutations in DCC cause congenital mirror movements.
Science (New York, N.Y.) Apr, 2010 | Pubmed ID: 20431009
The International Consortium on Lithium Genetics (ConLiGen): an initiative by the NIMH and IGSLI to study the genetic basis of response to lithium treatment.
Neuropsychobiology , 2010 | Pubmed ID: 20453537
Family study of restless legs syndrome in Quebec, Canada: clinical characterization of 671 familial cases.
Archives of neurology May, 2010 | Pubmed ID: 20457962
Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?
Journal of neurology, neurosurgery, and psychiatry May, 2010 | Pubmed ID: 20460594
Association of NPAS3 exonic variation with schizophrenia.
Schizophrenia research Jul, 2010 | Pubmed ID: 20466522
Integrative gene-tissue microarray-based approach for identification of human disease biomarkers: application to amyotrophic lateral sclerosis.
Human molecular genetics Aug, 2010 | Pubmed ID: 20530642
Cognitive impairment in ARCA-1, a newly discovered pure cerebellar ataxia syndrome.
Cerebellum (London, England) Sep, 2010 | Pubmed ID: 20559786
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.
Journal of medical genetics Aug, 2010 | Pubmed ID: 20577002
De novo truncating mutation in Kinesin 17 associated with schizophrenia.
Biological psychiatry Oct, 2010 | Pubmed ID: 20646681
Implication of synapse-related genes in bipolar disorder by linkage and gene expression analyses.
The international journal of neuropsychopharmacology / official scientific journal of the Collegium Internationale Neuropsychopharmacologicum (CINP) Nov, 2010 | Pubmed ID: 20667171
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.
American journal of human genetics Sep, 2010 | Pubmed ID: 20797689
Chromosome 9p21 in amyotrophic lateral sclerosis: the plot thickens.
Lancet neurology Oct, 2010 | Pubmed ID: 20801719
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
Science translational medicine Sep, 2010 | Pubmed ID: 20844286
Restless legs syndrome mothers and attention-deficit/hyperactivity disorder children: what happened between them?
Sleep medicine Jan, 2011 | Pubmed ID: 20851048
Early impact of 5-HTTLPR polymorphism on the neural correlates of sadness.
Neuroscience letters Nov, 2010 | Pubmed ID: 20851164
A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura.
Nature medicine Oct, 2010 | Pubmed ID: 20871611
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.
American journal of human genetics Nov, 2010 | Pubmed ID: 20950788
Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis.
Neurobiology of aging Mar, 2011 | Pubmed ID: 21074290
Response to treatment in bipolar disorder.
Current opinion in psychiatry Jan, 2011 | Pubmed ID: 21088584
A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.
Brain : a journal of neurology Feb, 2011 | Pubmed ID: 21115467
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
American journal of human genetics Dec, 2010 | Pubmed ID: 21129721
Cellular expression of the K+-Cl- cotransporter KCC3 in the central nervous system of mouse.
Brain research Feb, 2011 | Pubmed ID: 21147077
Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis.
Journal of human genetics Mar, 2011 | Pubmed ID: 21160488
Common variants in P2RY11 are associated with narcolepsy.
Nature genetics Jan, 2011 | Pubmed ID: 21170044
Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis.
Archives of neurology May, 2011 | Pubmed ID: 21220648
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.
Biological psychiatry May, 2011 | Pubmed ID: 21237447
TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1.
Human molecular genetics Apr, 2011 | Pubmed ID: 21257637
Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases Mar, 2011 | Pubmed ID: 21261515
LINGO1 variants in the French-Canadian population.
PloS one , 2011 | Pubmed ID: 21264305
Where are the missing pieces of the schizophrenia genetics puzzle?
Current opinion in genetics & development Jun, 2011 | Pubmed ID: 21277191
Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation.
Orphanet journal of rare diseases , 2011 | Pubmed ID: 21294910
Intellectual disability without epilepsy associated with STXBP1 disruption.
European journal of human genetics : EJHG May, 2011 | Pubmed ID: 21364700
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
American journal of human genetics Mar, 2011 | Pubmed ID: 21376300
A population genetic approach to mapping neurological disorder genes using deep resequencing.
PLoS genetics Feb, 2011 | Pubmed ID: 21383861
No effect on SOD1 splicing by TARDP or FUS mutations.
Archives of neurology Mar, 2011 | Pubmed ID: 21403029
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.
Human genetics Oct, 2011 | Pubmed ID: 21424692
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.
BMC medical genomics , 2011 | Pubmed ID: 21439053
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
Human molecular genetics Jun, 2011 | Pubmed ID: 21441247
The case for locus-specific databases.
Nature reviews. Genetics Jun, 2011 | Pubmed ID: 21540879
Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum.
The Journal of biological chemistry Aug, 2011 | Pubmed ID: 21628467
Variation in genome-wide mutation rates within and between human families.
Nature genetics Jul, 2011 | Pubmed ID: 21666693
Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis.
Archives of neurology Jun, 2011 | Pubmed ID: 21670397
Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis.
Annals of neurology Jul, 2011 | Pubmed ID: 21710629
The ongoing dissection of the genetic architecture of autistic spectrum disorder.
Molecular autism , 2011 | Pubmed ID: 21740537
Increased exonic de novo mutation rate in individuals with schizophrenia.
Nature genetics Sep, 2011 | Pubmed ID: 21743468
Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments.
Brain : a journal of neurology Sep, 2011 | Pubmed ID: 21752789
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.
PLoS genetics Jul, 2011 | Pubmed ID: 21779176
Early influence of the rs4675690 on the neural substrates of sadness.
Journal of affective disorders Dec, 2011 | Pubmed ID: 21807415
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
American journal of human genetics Aug, 2011 | Pubmed ID: 21820098
FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis.
PLoS genetics Aug, 2011 | Pubmed ID: 21829392
Letter to the editors: comment on "Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families"
Journal of neurology Aug, 2011 | Pubmed ID: 21847616
Migraine: Role of the TRESK two-pore potassium channel.
The international journal of biochemistry & cell biology Nov, 2011 | Pubmed ID: 21855646
Glucocerebrosidase mutations in a French-Canadian Parkinson's disease cohort.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques Sep, 2011 | Pubmed ID: 21856586
A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema.
Human mutation Nov, 2011 | Pubmed ID: 21898657
Amyotrophic lateral sclerosis: new genes, new models, and new mechanisms.
F1000 biology reports , 2011 | Pubmed ID: 21941597
A role for ubiquilin 2 mutations in neurodegeneration.
Nature reviews. Neurology Nov, 2011 | Pubmed ID: 21989241
Voltage-gated Na+ channel β1B: a secreted cell adhesion molecule involved in human epilepsy.
The Journal of neuroscience : the official journal of the Society for Neuroscience Oct, 2011 | Pubmed ID: 21994374
Neurophysiological investigation of congenital mirror movements in a patient with agenesis of the corpus callosum.
Brain stimulation Mar, 2011 | Pubmed ID: 22037131
Exome sequencing reveals SPG11 mutations causing juvenile ALS.
Neurobiology of aging Apr, 2012 | Pubmed ID: 22154821
Novel FUS Deletion in a Patient With Juvenile Amyotrophic Lateral Sclerosis.
Archives of neurology Jan, 2012 | Pubmed ID: 22248478
Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.
European journal of human genetics : EJHG Jan, 2012 | Pubmed ID: 22258530
Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.
Human molecular genetics Feb, 2012 | Pubmed ID: 22337953
SOD1 mutations: more to learn.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques Mar, 2012 | Pubmed ID: 22343144
A novel PLP1 mutation further expands the clinical heterogeneity at the locus.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques Mar, 2012 | Pubmed ID: 22343157
Functional analysis of missense variants in the TRESK (KCNK18) K channel.
Scientific reports , 2012 | Pubmed ID: 22355750
Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis.
Neurobiology of aging Aug, 2012 | Pubmed ID: 22361451
Mutant TDP-43 and FUS cause age-dependent paralysis and neurodegeneration in C. elegans.
PloS one , 2012 | Pubmed ID: 22363618
Synapsin II is involved in the molecular pathway of lithium treatment in bipolar disorder.
PloS one , 2012 | Pubmed ID: 22384280
CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques Jan, 2012 | Pubmed ID: 22384504
Association between schizophrenia and genetic variation in DCC: a case-control study.
Schizophrenia research May, 2012 | Pubmed ID: 22418395
Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum.
The Journal of neuroscience : the official journal of the Society for Neuroscience Mar, 2012 | Pubmed ID: 22423107
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
American journal of human genetics Apr, 2012 | Pubmed ID: 22425360
Schizophrenia genetics: putting all the pieces together.
Current neurology and neuroscience reports Jun, 2012 | Pubmed ID: 22456906
Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome.
Journal of the peripheral nervous system : JPNS Mar, 2012 | Pubmed ID: 22462673
Unruptured intracranial aneurysms in the Familial Intracranial Aneurysm and International Study of Unruptured Intracranial Aneurysms cohorts: differences in multiplicity and location.
Journal of neurosurgery Jul, 2012 | Pubmed ID: 22540404
UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis.
Neurobiology of aging Sep, 2012 | Pubmed ID: 22560112
H3K4 tri-methylation in synapsin genes leads to different expression patterns in bipolar disorder and major depression.
The international journal of neuropsychopharmacology / official scientific journal of the Collegium Internationale Neuropsychopharmacologicum (CINP) Mar, 2013 | Pubmed ID: 22571925
UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis.
Neurobiology of aging Oct, 2012 | Pubmed ID: 22717235
Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia.
European journal of human genetics : EJHG Feb, 2013 | Pubmed ID: 22739338
Familial ALS: less common than we think?
Journal of neurology, neurosurgery, and psychiatry Dec, 2012 | Pubmed ID: 22791902
Exome sequencing identifies FUS mutations as a cause of essential tremor.
American journal of human genetics Aug, 2012 | Pubmed ID: 22863194
Mortality and causes of death in the Familial Intracranial Aneurysm study.
International journal of stroke : official journal of the International Stroke Society Dec, 2013 | Pubmed ID: 22928607
Harnessing genomics to identify environmental determinants of heritable disease.
Mutation research Aug, 2012 | Pubmed ID: 22935230
VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.
American journal of human genetics Sep, 2012 | Pubmed ID: 22958904
Genome-wide association study of intracranial aneurysms confirms role of Anril and SOX17 in disease risk.
Stroke; a journal of cerebral circulation Nov, 2012 | Pubmed ID: 22961961
C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia.
Archives of neurology Sep, 2012 | Pubmed ID: 22964911
De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention.
Genome medicine , 2012 | Pubmed ID: 23009675
Mutations in TMEM231 cause Joubert syndrome in French Canadians.
Journal of medical genetics Oct, 2012 | Pubmed ID: 23012439
Identification of novel genes involved in migraine.
Headache Oct, 2012 | Pubmed ID: 23030542
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome.
Human mutation Jan, 2013 | Pubmed ID: 23033317
Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.
Neurobiology of aging Apr, 2013 | Pubmed ID: 23062600
The FUS about arginine methylation in ALS and FTLD.
The EMBO journal Nov, 2012 | Pubmed ID: 23085990
Endoplasmic reticulum lipid rafts and upper motor neuron degeneration.
Annals of neurology Oct, 2012 | Pubmed ID: 23109142
Epigenetic regulation of synapsin genes in mood disorders.
Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology Jan, 2013 | Pubmed ID: 23147482
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Human mutation Feb, 2013 | Pubmed ID: 23161826
Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.
European journal of human genetics : EJHG Jul, 2013 | Pubmed ID: 23169495
Familial intracranial aneurysms: is anatomic vulnerability heritable?
Stroke; a journal of cerebral circulation Jan, 2013 | Pubmed ID: 23204049
Investigation of C9orf72 repeat expansions in Parkinson's disease.
Neurobiology of aging Jun, 2013 | Pubmed ID: 23273600
WNK1/HSN2 mutation in human peripheral neuropathy deregulates KCC2 expression and posterior lateral line development in zebrafish (Danio rerio).
PLoS genetics , 2013 | Pubmed ID: 23300475
C9orf72 repeat expansions are a rare genetic cause of parkinsonism.
Brain : a journal of neurology Feb, 2013 | Pubmed ID: 23413259
Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease.
Behavioral and brain functions : BBF , 2013 | Pubmed ID: 23425335
Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis.
Human molecular genetics Jun, 2013 | Pubmed ID: 23446633
Comparative analysis of the expression profile of Wnk1 and Wnk1/Hsn2 splice variants in developing and adult mouse tissues.
PloS one , 2013 | Pubmed ID: 23451271
ImmunoChip study implicates antigen presentation to T cells in narcolepsy.
PLoS genetics , 2013 | Pubmed ID: 23459209
Rapid EEG activity during sleep dominates in mild traumatic brain injury patients with acute pain.
Journal of neurotrauma Apr, 2013 | Pubmed ID: 23510169
TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.
Human mutation Jun, 2013 | Pubmed ID: 23559573
Rare variants in complex traits: novel identification strategies and the role of de novo mutations.
Human heredity , 2012 | Pubmed ID: 23594499
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.
Human mutation Aug, 2013 | Pubmed ID: 23649844
Genetic and epigenetic studies of amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis & frontotemporal degeneration May, 2013 | Pubmed ID: 23678879
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.
Journal of medical genetics Nov, 2013 | Pubmed ID: 23687350
Potassium-chloride cotransporter 3 interacts with Vav2 to synchronize the cell volume decrease response with cell protrusion dynamics.
PloS one , 2013 | Pubmed ID: 23724134
Mitochondrial damage revealed by immunoselection for ALS-linked misfolded SOD1.
Human molecular genetics Oct, 2013 | Pubmed ID: 23736301
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
American journal of human genetics Jul, 2013 | Pubmed ID: 23746551
Differential effect of lithium on spermidine/spermine N1-acetyltransferase expression in suicidal behaviour.
The international journal of neuropsychopharmacology / official scientific journal of the Collegium Internationale Neuropsychopharmacologicum (CINP) Nov, 2013 | Pubmed ID: 23768751
Assessment of Response to Lithium Maintenance Treatment in Bipolar Disorder: A Consortium on Lithium Genetics (ConLiGen) Report.
PloS one , 2013 | Pubmed ID: 23840348
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
Nature genetics Aug, 2013 | Pubmed ID: 23933821
SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth.
Human molecular genetics Jan, 2014 | Pubmed ID: 23956174
SYNE1 mutations in autosomal recessive cerebellar ataxia.
JAMA neurology Oct, 2013 | Pubmed ID: 23959263
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.
American journal of human genetics Oct, 2013 | Pubmed ID: 24075189
Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans.
PLoS genetics , 2013 | Pubmed ID: 24086152
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
Human mutation Jan, 2014 | Pubmed ID: 24108619
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.
American journal of human genetics Nov, 2013 | Pubmed ID: 24119685
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
Neuron Oct, 2013 | Pubmed ID: 24139043
The impact of phenotypic and genetic heterogeneity on results of genome wide association studies of complex diseases.
PloS one , 2013 | Pubmed ID: 24146854
Partitioning the heritability of tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture.
PLoS genetics Oct, 2013 | Pubmed ID: 24204291
Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder.
Genome / National Research Council Canada = Génome / Conseil national de recherches Canada Oct, 2013 | Pubmed ID: 24237345
Alterations in phosphorylated cAMP response element-binding protein (pCREB) signaling: an endophenotype of lithium-responsive bipolar disorder?
Bipolar disorders Dec, 2013 | Pubmed ID: 24238631
Response Inhibition in Tic Disorders: Waiting to Respond Is Harder When ADHD Is Present.
Journal of attention disorders Dec, 2013 | Pubmed ID: 24305059
Decreased global methylation in patients with bipolar disorder who respond to lithium.
The international journal of neuropsychopharmacology / official scientific journal of the Collegium Internationale Neuropsychopharmacologicum (CINP) Apr, 2014 | Pubmed ID: 24345589
Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans.
PloS one , 2013 | Pubmed ID: 24349511
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
American journal of human genetics Feb, 2014 | Pubmed ID: 24388663
Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.
JAMA neurology Apr, 2014 | Pubmed ID: 24566826
Genome-wide association study reveals two new risk loci for bipolar disorder.
Nature communications , 2014 | Pubmed ID: 24618891
Molecular aspects of hereditary spastic paraplegia.
Experimental cell research Jul, 2014 | Pubmed ID: 24631291
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
Journal of medical genetics Jun, 2014 | Pubmed ID: 24706941
Quantitative trait loci (QTL) study identifies novel genomic regions associated to Chiari-like malformation in Griffon Bruxellois dogs.
PloS one , 2014 | Pubmed ID: 24740420
Dissection of genetic factors associated with amyotrophic lateral sclerosis.
Experimental neurology Dec, 2014 | Pubmed ID: 24780888
The genetic landscape of infantile spasms.
Human molecular genetics Sep, 2014 | Pubmed ID: 24781210
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
American journal of human genetics Jun, 2014 | Pubmed ID: 24814191
Genetics of essential tremor: from phenotype to genes, insights from both human and mouse studies.
Progress in neurobiology Aug-Sep, 2014 | Pubmed ID: 24820404
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
EMBO reports Jul, 2014 | Pubmed ID: 24928908
Genome-wide association study in FTD: divide to conquer.
The Lancet. Neurology Jul, 2014 | Pubmed ID: 24943334
Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes.
Human genetics Oct, 2014 | Pubmed ID: 25026993
Genetic association signal near NTN4 in Tourette syndrome.
Annals of neurology Aug, 2014 | Pubmed ID: 25042818
Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.
Journal of the American Academy of Child and Adolescent Psychiatry Aug, 2014 | Pubmed ID: 25062598
Vanishing white matter disease in French-Canadian patients from Quebec.
Pediatric neurology Aug, 2014 | Pubmed ID: 25079571
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.
Human genetics Nov, 2014 | Pubmed ID: 25098561
ODD irritability is associated with obsessive-compulsive behavior and not ADHD in chronic tic disorders.
Psychiatry research Dec, 2014 | Pubmed ID: 25108592
Linking neocortical, cognitive, and genetic variability in autism with alterations of brain plasticity: the Trigger-Threshold-Target model.
Neuroscience and biobehavioral reviews Nov, 2014 | Pubmed ID: 25155242
Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.
The American journal of psychiatry Jan, 2015 | Pubmed ID: 25158072
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
PLoS genetics Sep, 2014 | Pubmed ID: 25188300
Dopamine transporter SLC6A3 genotype affects cortico-striatal activity of set-shifts in Parkinson's disease.
Brain : a journal of neurology Nov, 2014 | Pubmed ID: 25212851
Increased Prevalence of Non-motor Symptoms in Essential Tremor.
Tremor and other hyperkinetic movements (New York, N.Y.) , 2014 | Pubmed ID: 25247108
Genome-wide association study of intracranial aneurysm identifies a new association on chromosome 7.
Stroke; a journal of cerebral circulation Nov, 2014 | Pubmed ID: 25256182
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
Human mutation Jan, 2015 | Pubmed ID: 25265257
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.
Human molecular genetics Mar, 2015 | Pubmed ID: 25343993
De novo mutations in moderate or severe intellectual disability.
PLoS genetics Oct, 2014 | Pubmed ID: 25356899
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
Neuron Oct, 2014 | Pubmed ID: 25374358
C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques Nov, 2014 | Pubmed ID: 25377888
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.
European journal of human genetics : EJHG Nov, 2014 | Pubmed ID: 25407000
A novel nonsense mutation in SCN9A in a Moroccan child with congenital insensitivity to pain.
Pediatric neurology Nov, 2014 | Pubmed ID: 25439579
Family-based association study of common variants, rare mutation study and epistatic interaction detection in HDAC genes in schizophrenia.
Schizophrenia research Dec, 2014 | Pubmed ID: 25445625
No evidence for GADL1 variation as a bipolar disorder susceptibility factor in a Caucasian lithium-responsive cohort.
The American journal of psychiatry Jan, 2015 | Pubmed ID: 25553497
Affected twins in the familial intracranial aneurysm study.
Cerebrovascular diseases (Basel, Switzerland) , 2015 | Pubmed ID: 25571891
Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients.
Acta neuropathologica communications , 2015 | Pubmed ID: 25637145
Functional variants of POC5 identified in patients with idiopathic scoliosis.
The Journal of clinical investigation Mar, 2015 | Pubmed ID: 25642776
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
Journal of medical genetics May, 2015 | Pubmed ID: 25650066
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.
Science (New York, N.Y.) Mar, 2015 | Pubmed ID: 25700176
Loss-of-function de novo mutations play an important role in severe human neural tube defects.
Journal of medical genetics Mar, 2015 | Pubmed ID: 25805808
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
Brain : a journal of neurology Jun, 2015 | Pubmed ID: 25808372
Comparison of sequencing based CNV discovery methods using monozygotic twin quartets.
PloS one , 2015 | Pubmed ID: 25812131
Genetic markers of Restless Legs Syndrome in Parkinson disease.
Parkinsonism & related disorders Jun, 2015 | Pubmed ID: 25817513
A gain-of-function mutation in NALCN in a child with intellectual disability, ataxia and arthrogryposis.
Human mutation Apr, 2015 | Pubmed ID: 25864427
Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).
Trends in genetics : TIG May, 2015 | Pubmed ID: 25869998
A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling.
The Journal of biological chemistry May, 2015 | Pubmed ID: 25882839
Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients.
Gene Jul, 2015 | Pubmed ID: 25913742
LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis.
Parkinsonism & related disorders May, 2015 | Pubmed ID: 25962553
Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population.
PloS one , 2015 | Pubmed ID: 26010953
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Brain : a journal of neurology May, 2015 | Pubmed ID: 26026163
Mutation burden of rare variants in schizophrenia candidate genes.
PloS one , 2015 | Pubmed ID: 26039597
JoVE 소개
Copyright © 2024 MyJoVE Corporation. 판권 소유