Guy Rouleau Montreal Neurological Institute and Hospital McGill University Biography Publications Institution JoVE Articles Guy Rouleau has not added a biography. If you are Guy Rouleau and would like to personalize this page please email our Author Liaison for assistance. Publications Mutation Burden of Rare Variants in Schizophrenia Candidate Genes PloS One. 2015 | Pubmed ID: 26039597 Alteration of Ornithine Metabolism Leads to Dominant and Recessive Hereditary Spastic Paraplegia Brain : a Journal of Neurology. May, 2015 | Pubmed ID: 26026163 Increased Missense Mutation Burden of Fatty Acid Metabolism Related Genes in Nunavik Inuit Population PloS One. 2015 | Pubmed ID: 26010953 LRRK2 Mutations in Parkinson Disease; a Sex Effect or Lack Thereof? A Meta-analysis Parkinsonism & Related Disorders. May, 2015 | Pubmed ID: 25962553 Identification of Rare Protein Disulfide Isomerase Gene Variants in Amyotrophic Lateral Sclerosis Patients Gene. Jul, 2015 | Pubmed ID: 25913742 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 Defining the Genetic Connection Linking Amyotrophic Lateral Sclerosis (ALS) with Frontotemporal Dementia (FTD) Trends in Genetics : TIG. May, 2015 | Pubmed ID: 25869998 A Gain-of-function Mutation in NALCN in a Child with Intellectual Disability, Ataxia and Arthrogryposis Human Mutation. Apr, 2015 | Pubmed ID: 25864427 Genetic Markers of Restless Legs Syndrome in Parkinson Disease Parkinsonism & Related Disorders. Jun, 2015 | Pubmed ID: 25817513 Comparison of Sequencing Based CNV Discovery Methods Using Monozygotic Twin Quartets PloS One. 2015 | Pubmed ID: 25812131 PMPCA Mutations Cause Abnormal Mitochondrial Protein Processing in Patients with Non-progressive Cerebellar Ataxia Brain : a Journal of Neurology. Jun, 2015 | Pubmed ID: 25808372 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 Exome Sequencing in Amyotrophic Lateral Sclerosis Identifies Risk Genes and Pathways Science (New York, N.Y.). Mar, 2015 | Pubmed ID: 25700176 Disruption of CLPB is Associated with Congenital Microcephaly, Severe Encephalopathy and 3-methylglutaconic Aciduria Journal of Medical Genetics. May, 2015 | Pubmed ID: 25650066 Functional Variants of POC5 Identified in Patients with Idiopathic Scoliosis The Journal of Clinical Investigation. Mar, 2015 | Pubmed ID: 25642776 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 Affected Twins in the Familial Intracranial Aneurysm Study Cerebrovascular Diseases (Basel, Switzerland). 2015 | Pubmed ID: 25571891 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 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 the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy Human Mutation. Jan, 2015 | Pubmed ID: 25265257 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 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 A Novel Nonsense Mutation in SCN9A in a Moroccan Child with Congenital Insensitivity to Pain Pediatric Neurology. Nov, 2014 | Pubmed ID: 25439579 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 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 Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS Neuron. Oct, 2014 | Pubmed ID: 25374358 De Novo Mutations in Moderate or Severe Intellectual Disability PLoS Genetics. Oct, 2014 | Pubmed ID: 25356899 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 Increased Prevalence of Non-motor Symptoms in Essential Tremor Tremor and Other Hyperkinetic Movements (New York, N.Y.). 2014 | Pubmed ID: 25247108 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 Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a Gradient of Severity in Cognitive Impairments PLoS Genetics. Sep, 2014 | Pubmed ID: 25188300 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 ODD Irritability is Associated with Obsessive-compulsive Behavior and Not ADHD in Chronic Tic Disorders Psychiatry Research. Dec, 2014 | Pubmed ID: 25108592 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 Vanishing White Matter Disease in French-Canadian Patients from Quebec Pediatric Neurology. Aug, 2014 | Pubmed ID: 25079571 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 Genetic Association Signal Near NTN4 in Tourette Syndrome Annals of Neurology. Aug, 2014 | Pubmed ID: 25042818 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 Genome-wide Association Study in FTD: Divide to Conquer The Lancet. Neurology. Jul, 2014 | Pubmed ID: 24943334 Genetically Encoded Impairment of Neuronal KCC2 Cotransporter Function in Human Idiopathic Generalized Epilepsy EMBO Reports. Jul, 2014 | Pubmed ID: 24928908 Genetics of Essential Tremor: from Phenotype to Genes, Insights from Both Human and Mouse Studies Progress in Neurobiology. Aug-Sep, 2014 | Pubmed ID: 24820404 Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness American Journal of Human Genetics. Jun, 2014 | Pubmed ID: 24814191 The Genetic Landscape of Infantile Spasms Human Molecular Genetics. Sep, 2014 | Pubmed ID: 24781210 Dissection of Genetic Factors Associated with Amyotrophic Lateral Sclerosis Experimental Neurology. Dec, 2014 | Pubmed ID: 24780888 Quantitative Trait Loci (QTL) Study Identifies Novel Genomic Regions Associated to Chiari-like Malformation in Griffon Bruxellois Dogs PloS One. 2014 | Pubmed ID: 24740420 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 Molecular Aspects of Hereditary Spastic Paraplegia Experimental Cell Research. Jul, 2014 | Pubmed ID: 24631291 Genome-wide Association Study Reveals Two New Risk Loci for Bipolar Disorder Nature Communications. 2014 | Pubmed ID: 24618891 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 Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia American Journal of Human Genetics. Feb, 2014 | Pubmed ID: 24388663 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 Exome Sequencing As a Diagnostic Tool for Pediatric-onset Ataxia Human Mutation. Jan, 2014 | Pubmed ID: 24108619 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 Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. Elegans PloS One. 2013 | Pubmed ID: 24349511 Response Inhibition in Tic Disorders: Waiting to Respond Is Harder When ADHD Is Present Journal of Attention Disorders. Dec, 2013 | Pubmed ID: 24305059 Alterations in Phosphorylated CAMP Response Element-binding Protein (pCREB) Signaling: an Endophenotype of Lithium-responsive Bipolar Disorder? Bipolar Disorders. Dec, 2013 | Pubmed ID: 24238631 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 Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture PLoS Genetics. Oct, 2013 | Pubmed ID: 24204291 The Impact of Phenotypic and Genetic Heterogeneity on Results of Genome Wide Association Studies of Complex Diseases PloS One. 2013 | Pubmed ID: 24146854 Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy Neuron. Oct, 2013 | Pubmed ID: 24139043 ERBB4 Mutations That Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19 American Journal of Human Genetics. Nov, 2013 | Pubmed ID: 24119685 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 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 SYNE1 Mutations in Autosomal Recessive Cerebellar Ataxia JAMA Neurology. Oct, 2013 | Pubmed ID: 23959263 Genetic Relationship Between Five Psychiatric Disorders Estimated from Genome-wide SNPs Nature Genetics. Aug, 2013 | Pubmed ID: 23933821 Assessment of Response to Lithium Maintenance Treatment in Bipolar Disorder: A Consortium on Lithium Genetics (ConLiGen) Report PloS One. 2013 | Pubmed ID: 23840348 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 Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia American Journal of Human Genetics. Jul, 2013 | Pubmed ID: 23746551 Mitochondrial Damage Revealed by Immunoselection for ALS-linked Misfolded SOD1 Human Molecular Genetics. Oct, 2013 | Pubmed ID: 23736301 Potassium-chloride Cotransporter 3 Interacts with Vav2 to Synchronize the Cell Volume Decrease Response with Cell Protrusion Dynamics PloS One. 2013 | Pubmed ID: 23724134 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 Genetic and Epigenetic Studies of Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. May, 2013 | Pubmed ID: 23678879 Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-specific Expression Human Mutation. Aug, 2013 | Pubmed ID: 23649844 TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update Human Mutation. Jun, 2013 | Pubmed ID: 23559573 Rapid EEG Activity During Sleep Dominates in Mild Traumatic Brain Injury Patients with Acute Pain Journal of Neurotrauma. Apr, 2013 | Pubmed ID: 23510169 ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy PLoS Genetics. 2013 | Pubmed ID: 23459209 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 Investigating the Contribution of VAPB/ALS8 Loss of Function in Amyotrophic Lateral Sclerosis Human Molecular Genetics. Jun, 2013 | Pubmed ID: 23446633 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 C9orf72 Repeat Expansions Are a Rare Genetic Cause of Parkinsonism Brain : a Journal of Neurology. Feb, 2013 | Pubmed ID: 23413259 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 Investigation of C9orf72 Repeat Expansions in Parkinson's Disease Neurobiology of Aging. Jun, 2013 | Pubmed ID: 23273600 Familial Intracranial Aneurysms: is Anatomic Vulnerability Heritable? Stroke; a Journal of Cerebral Circulation. Jan, 2013 | Pubmed ID: 23204049 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 Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency Human Mutation. Feb, 2013 | Pubmed ID: 23161826 Epigenetic Regulation of Synapsin Genes in Mood Disorders Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. Jan, 2013 | Pubmed ID: 23147482 Mutation Analysis of PFN1 in Familial Amyotrophic Lateral Sclerosis Patients Neurobiology of Aging. Apr, 2013 | Pubmed ID: 23062600 Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome Human Mutation. Jan, 2013 | Pubmed ID: 23033317 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 Genetic Analysis of SIGMAR1 As a Cause of Familial ALS with Dementia European Journal of Human Genetics : EJHG. Feb, 2013 | Pubmed ID: 22739338 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 Rare Variants in Complex Traits: Novel Identification Strategies and the Role of De Novo Mutations Human Heredity. 2012 | Pubmed ID: 23594499 Endoplasmic Reticulum Lipid Rafts and Upper Motor Neuron Degeneration Annals of Neurology. Oct, 2012 | Pubmed ID: 23109142 The FUS About Arginine Methylation in ALS and FTLD The EMBO Journal. Nov, 2012 | Pubmed ID: 23085990 Identification of Novel Genes Involved in Migraine Headache. Oct, 2012 | Pubmed ID: 23030542 Mutations in TMEM231 Cause Joubert Syndrome in French Canadians Journal of Medical Genetics. Oct, 2012 | Pubmed ID: 23012439 De Novo Mutations in Neurological and Psychiatric Disorders: Effects, Diagnosis and Prevention Genome Medicine. 2012 | Pubmed ID: 23009675 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 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 VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families American Journal of Human Genetics. Sep, 2012 | Pubmed ID: 22958904 상속 질병의 환경 결정 요인 식별 하는 유전체학을 활용 합니다 Mutation Research. Aug, 2012 | Pubmed ID: 22935230 Exome Sequencing Identifies FUS Mutations As a Cause of Essential Tremor American Journal of Human Genetics. Aug, 2012 | Pubmed ID: 22863194 Familial ALS: Less Common Than We Think? Journal of Neurology, Neurosurgery, and Psychiatry. Dec, 2012 | Pubmed ID: 22791902 UBQLN2/ubiquilin 2 Mutation and Pathology in Familial Amyotrophic Lateral Sclerosis Neurobiology of Aging. Oct, 2012 | Pubmed ID: 22717235 UBQLN2 Mutations Are Rare in French and French-Canadian Amyotrophic Lateral Sclerosis Neurobiology of Aging. Sep, 2012 | Pubmed ID: 22560112 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 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 Schizophrenia Genetics: Putting All the Pieces Together Current Neurology and Neuroscience Reports. Jun, 2012 | Pubmed ID: 22456906 Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population American Journal of Human Genetics. Apr, 2012 | Pubmed ID: 22425360 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 Association Between Schizophrenia and Genetic Variation in DCC: a Case-control Study Schizophrenia Research. May, 2012 | Pubmed ID: 22418395 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 Synapsin II is Involved in the Molecular Pathway of Lithium Treatment in Bipolar Disorder PloS One. 2012 | Pubmed ID: 22384280 Mutant TDP-43 and FUS Cause Age-dependent Paralysis and Neurodegeneration in C. Elegans PloS One. 2012 | Pubmed ID: 22363618 Analysis of the SORT1 Gene in Familial Amyotrophic Lateral Sclerosis Neurobiology of Aging. Aug, 2012 | Pubmed ID: 22361451 Functional Analysis of Missense Variants in the TRESK (KCNK18) K Channel Scientific Reports. 2012 | Pubmed ID: 22355750 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 SOD1 Mutations: More to Learn The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. Mar, 2012 | Pubmed ID: 22343144 확장 된 ATXN3 Frameshifting 이벤트 초파리와 포유류 신경 모델에 독성이 있다 Human Molecular Genetics. Feb, 2012 | Pubmed ID: 22337953 지적 장애 및 Pontocerebellar 위축에 Sptan1는 새로운 프레임에 드 노 보 돌연변이의 Id입니다 European Journal of Human Genetics : EJHG. Jan, 2012 | Pubmed ID: 22258530 청소년 루 게 릭 병 측면 경화 증 환자에서 소설 FUS 삭제 Archives of Neurology. Jan, 2012 | Pubmed ID: 22248478 Exome 시퀀싱 SPG11 돌연변이 소년 루 게 릭 병 원인 밝혀 Neurobiology of Aging. Apr, 2012 | Pubmed ID: 22154821 신체 Callosum의 Agenesis와 환자에서 선 천 성 미러 움직임 Neurophysiological 조사 Brain Stimulation. Mar, 2011 | Pubmed ID: 22037131 Na + 채널 β1B 전압 개폐: 비 세포 접착 분자 인간의 간 질에 관여 The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. Oct, 2011 | Pubmed ID: 21994374 Neurodegeneration에 Ubiquilin 2 돌연변이 대 한 역할입니다 Nature Reviews. Neurology. Nov, 2011 | Pubmed ID: 21989241 루 게 릭 병 측면 경화 증: 새로운 유전자, 새로운 모델과 새로운 메커니즘 F1000 Biology Reports. 2011 | Pubmed ID: 21941597 기능 XPNPEP2 발기인 Haplotype 리드 감소 플라즈마 Aminopeptidase P와 ACE 억제제 유도 Angioedema의 위험을 증가 Human Mutation. Nov, 2011 | Pubmed ID: 21898657 캐나다 파 킨 슨 질환 코 호트에서 Glucocerebrosidase 돌연변이 The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. Sep, 2011 | Pubmed ID: 21856586 편두통: TRESK 2 기 공 칼륨 채널의 역할 The International Journal of Biochemistry & Cell Biology. Nov, 2011 | Pubmed ID: 21855646 편집자에 게 편지: 댓글에 "유전 성 감각 및 자율 신경 2 차 멕시코 가족에서 HSN2 유전자의 새로운 돌연변이 때문" Journal of Neurology. Aug, 2011 | Pubmed ID: 21847616 FUS TARDBP 하지만 하지 SOD1 루 게 릭 병 측면 경화 증의 유전자 모델에서 상호 작용합니다 PLoS Genetics. Aug, 2011 | Pubmed ID: 21829392 KIF1A, 시 냅 스 소포의 Axonal 전송 2 유전 성 감각 및 자율 신경 병 형에서 돌연변이 이다 American Journal of Human Genetics. Aug, 2011 | Pubmed ID: 21820098 슬픔의 신경 기판에는 Rs4675690의 초기 영향 Journal of Affective Disorders. Dec, 2011 | Pubmed ID: 21807415 게놈 넓은 협회 연구 2 P 14에 16q12.1 소설 중 천 다리 증후군 민감성 Loci를 식별합니다 PLoS Genetics. Jul, 2011 | Pubmed ID: 21779176 TDP-43 게놈 조각을 사용 하 여 생산 하는 유전자 변형 쥐에 루 게 릭 병 측면 경화 증/frontotemporal Lobar 변성의 병 적인 특징 Brain : a Journal of Neurology. Sep, 2011 | Pubmed ID: 21752789 정신 분열 증을 가진 개인에서 Exonic 드 노 보 돌연변이 율 증가 Nature Genetics. Sep, 2011 | Pubmed ID: 21743468 자 폐 스펙트럼 장애의 유전자 아키텍처의 지속적인 해 부 Molecular Autism. 2011 | Pubmed ID: 21740537 중 천 다리 증후군 관련 MEIS1 위험 변종 철 분 항상성을 영향을 미칩니다 Annals of Neurology. Jul, 2011 | Pubmed ID: 21710629 긴 ATXN2 CAG의 협회 루 게 릭 병 측면 경화 증의 위험을 증가 함께 크기를 반복 합니다 Archives of Neurology. Jun, 2011 | Pubmed ID: 21670397 게놈 넓은 돌연변이 요금 내 고 인간의 가족 사이에서 변화 Nature Genetics. Jul, 2011 | Pubmed ID: 21666693 염화 칼륨 Co-transporter 3의 대 중 교통 결함은 유전 모터 및 신체 Callosum의 Agenesis와 감각 신경에 주요 병원 성 메커니즘입니다 The Journal of Biological Chemistry. Aug, 2011 | Pubmed ID: 21628467 로커 스 관련 데이터베이스에 대 한 케이스입니다 Nature Reviews. Genetics. Jun, 2011 | Pubmed ID: 21540879 부분 간 질과 자폐증에서 SYN1 기능 손실 돌연변이 발생 장애 시 냅 스 기능 Human Molecular Genetics. Jun, 2011 | Pubmed ID: 21441247 Idiopathic 정신 지체 복사본 번호 변종의 검출을 위한 게놈 넓은 배열 Genomic 교 잡 플랫폼의 비교 BMC Medical Genomics. 2011 | Pubmed ID: 21439053 자폐증 스펙트럼 장애와 정신 분열 증에 있는 NRXN2 및 Nrxn1에 돌연변이 자름 Human Genetics. Oct, 2011 | Pubmed ID: 21424692 TARDP 또는 FUS 돌연변이 의해 접합 Sod1에 영향 Archives of Neurology. Mar, 2011 | Pubmed ID: 21403029 신경 장애 유전자 깊은 Resequencing를 사용 하 여 매핑을 인구 유전 접근 PLoS Genetics. Feb, 2011 | Pubmed ID: 21383861 드 노 보 Glutamatergic 시스템과 Nonsyndromic 지적 장애에 관련 된 유전자에 있는 해로운 돌연변이의 초과 American Journal of Human Genetics. Mar, 2011 | Pubmed ID: 21376300 STXBP1 붕괴와 관련 된 간 질 없이 지적 장애 European Journal of Human Genetics : EJHG. May, 2011 | Pubmed ID: 21364700 A382P TDP-43 변이 환자의 감각 및 모터 Neuronopathy Orphanet Journal of Rare Diseases. 2011 | Pubmed ID: 21294910 어디는 정신 분열 증 유전자의 누락 조각 퍼즐? Current Opinion in Genetics & Development. Jun, 2011 | Pubmed ID: 21277191 캐나다 인구에서 LINGO1 변종입니다 PloS One. 2011 | Pubmed ID: 21264305 루 게 릭 병 측면 경화 증의 산발적 인 경우에서 소설 FUS 돌연변이의 식별 Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. Mar, 2011 | Pubmed ID: 21261515 타르 DNA 의무적인 단백질 43 (TDP-43) G3bp와 티아 1 차등 규제를 통해 스트레스과 립 역학을 조절 Human Molecular Genetics. Apr, 2011 | Pubmed ID: 21257637 Nonsyndromic 지적 장애 및 자폐증에 드 노 보 SYNGAP1 돌연변이 Biological Psychiatry. May, 2011 | Pubmed ID: 21237447 가족 하 고 산발적 인 루 게 릭 병 측면 경화 증 환자에서 29 후보 유전자의 Resequencing Archives of Neurology. May, 2011 | Pubmed ID: 21220648 P2RY11 일반적인 변종 Narcolepsy와 연결 됩니다 Nature Genetics. Jan, 2011 | Pubmed ID: 21170044 루 게 릭 병 측면 경화 증 대 가족에서 돌연변이 접합 FUS의 식별 Journal of Human Genetics. Mar, 2011 | Pubmed ID: 21160488 K +의 세포 식-Cl-cotransporter KCC3 마우스의 중앙 신 경계에 Brain Research. Feb, 2011 | Pubmed ID: 21147077 RNF170 유전자에 돌연변이 Autosomal 지배적인 감각 운동 실 조 증을 발생합니다 Brain : a Journal of Neurology. Feb, 2011 | Pubmed ID: 21115467 Response to Treatment in Bipolar Disorder Current Opinion in Psychiatry. Jan, 2011 | Pubmed ID: 21088584 루 게 릭 병 측면 경화 증에 대 한 원인 유전자로 OPTN의 분석 Neurobiology of Aging. Mar, 2011 | Pubmed ID: 21074290 중 천 다리 증후군 어머니와 주의-결핍/과잉 행동 장애 어린이: 그들 사이 무슨 일이 있었는지? Sleep Medicine. Jan, 2011 | Pubmed ID: 20851048 NSDHL의 Hypomorphic 온도 민감한 대립 CK 증후군을 일으킬 American Journal of Human Genetics. Dec, 2010 | Pubmed ID: 21129721 지적 장애, 자폐증 및 언어 장애가 있는 경우 Foxp1에 드 노 보 돌연변이 American Journal of Human Genetics. Nov, 2010 | Pubmed ID: 20950788 TRESK 칼륨 채널에서 지배적인 부정적인 돌연변이 분위기와 가족 편두통에 연결 됩니다 Nature Medicine. Oct, 2010 | Pubmed ID: 20871611 슬픔의 신경 연관에 5 HTTLPR 다형성의 초기 영향 Neuroscience Letters. Nov, 2010 | Pubmed ID: 20851164 자폐증 스펙트럼 장애와 지적 장애에 Xp22.11에 PTCHD1 로커 스에서 중단 합니다 Science Translational Medicine. Sep, 2010 | Pubmed ID: 20844286 염색체 9 P 21에서 루 게 릭 병 측면 경화 증: 줄거리가 복잡 Lancet Neurology. Oct, 2010 | Pubmed ID: 20801719 자폐증과 정신 분열 증 동료에 드 노 보 돌연변이 율의 직접 측정 American Journal of Human Genetics. Sep, 2010 | Pubmed ID: 20797689 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 드 노 보 Kinesin 17 정신 분열 증과 관련 된 돌연변이 자름 Biological Psychiatry. Oct, 2010 | Pubmed ID: 20646681 가족성 루 게 릭 병 측면 경화 증에서 SOD1, 중앙, VAPB, TARDBP, 및 FUS 변이: 유전자 형 형 상관 관계 Journal of Medical Genetics. Aug, 2010 | Pubmed ID: 20577002 새로 발견된 된 순수 소 뇌 운동 실 조 증후군 ARCA 1에서 인지 장애 Cerebellum (London, England). Sep, 2010 | Pubmed ID: 20559786 인간의 질병 바이오 마커의 식별을 위한 통합 유전자 조직 Microarray 기반 접근 방식: 루 게 릭 병 측면 경화 증을 응용 프로그램 Human Molecular Genetics. Aug, 2010 | Pubmed ID: 20530642 NPAS3 Exonic 유사 정신 분열 증의 협회입니다 Schizophrenia Research. Jul, 2010 | Pubmed ID: 20466522 4 가족 ALS 혈통 두 SOD1 돌연변이 대 한 귀에 거슬리는: 병원 성 모든 SOD1 돌연변이? Journal of Neurology, Neurosurgery, and Psychiatry. May, 2010 | Pubmed ID: 20460594 퀘벡, 캐나다의 중 천 다리 증후군의 가족 연구: 671 가족 경우의 임상 특성 Archives of Neurology. May, 2010 | Pubmed ID: 20457962 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 DCC의 변이 원인이 선 천 성 미러 움직임 Science (New York, N.Y.). Apr, 2010 | Pubmed ID: 20431009 산발적 인 루 게 릭 병 측면 경화 증의 위험 요인으로 UNC13A 유전자의 분석 Archives of Neurology. Apr, 2010 | Pubmed ID: 20385924 드 노 보 인코딩 시 냅 스 캐 폴딩 단백질 유전자에 돌연변이 정신 분열 증 환자에서 SHANK3 Ascertained Proceedings of the National Academy of Sciences of the United States of America. Apr, 2010 | Pubmed ID: 20385823 정식 Wnt 신호 및 Sirtuin FoxO 장 수 통로 C. Elegans에 돌연변이 PABPN1 식에 의해 유도 된 근육 병 리에 대 한 보호 사이의 크로스 토크 Neurobiology of Disease. Jun, 2010 | Pubmed ID: 20227501 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 [SYNGAP1-syndromic 정신 지체와 관련 된에 드 노 보 돌연변이] Médecine Sciences : M/S. Feb, 2010 | Pubmed ID: 20188038 게놈 넓은 캐나다를 동반한 증후군에서 TDT 분석 The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. Jan, 2010 | Pubmed ID: 20169783 근 위축 증 단백질을 표현 하는 선 충에 Sirtuin 억제제의 특정 Sirtinol Analogues, 근육 세포 및 행동 보호를 보여준다 Journal of Medicinal Chemistry. Feb, 2010 | Pubmed ID: 20041717 루 게 릭 병 측면 경화 증에 대 한 후보 유전자로 DPP6 및 FGGY의 분석 Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. Aug, 2010 | Pubmed ID: 20001489 이득 및 TARDBP (TDP-43)의 루 게 릭 병 관련 돌연변이의 기능의 손실 원인 모터 적자 Vivo에서 Human Molecular Genetics. Feb, 2010 | Pubmed ID: 19959528 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 위험 요소와 루 게 릭 병 측면 경화 증의 질병 발병의 한정자 Chromogranin B P413L 변종 Proceedings of the National Academy of Sciences of the United States of America. Dec, 2009 | Pubmed ID: 20007371 사용 하 여 500 K SNP 배열 Genomic 교 잡 Idiopathic 지적 장애를 가진 아이 들에서 병원 성 복사본 번호 변종의 검출 BMC Genomics. 2009 | Pubmed ID: 19917086 Sod1에는 Pseudoexon를 생성 하는 돌연변이 가족성 루 게 릭 병의 원인 Annals of Human Genetics. Nov, 2009 | Pubmed ID: 19847927 모터 신경 질환의 유전학: 병원 성 메커니즘에 대 한 새로운 통찰력 Nature Reviews. Genetics. Nov, 2009 | Pubmed ID: 19823194 증후군와 BTBD9 유전자의 Intronic 이체의 협회 Archives of Neurology. Oct, 2009 | Pubmed ID: 19822783 퇴행성 신경 질환의 초파리 모델에서 등반 결함의 정량 분석 Surya T. Madabattula1, Joel C. Strautman1, Andrew M. Bysice1, Julia A. O’Sullivan1, Alaura Androschuk1, Cory Rosenfelt1, Kacy Doucet1, Guy Rouleau2, Francois Bolduc1 1Department of Pediatrics, University of Alberta, 2Montreal Neurological Institute and Hospital, McGill University Neuroscience
퇴행성 신경 질환의 초파리 모델에서 등반 결함의 정량 분석 Surya T. Madabattula1, Joel C. Strautman1, Andrew M. Bysice1, Julia A. O’Sullivan1, Alaura Androschuk1, Cory Rosenfelt1, Kacy Doucet1, Guy Rouleau2, Francois Bolduc1 1Department of Pediatrics, University of Alberta, 2Montreal Neurological Institute and Hospital, McGill University Neuroscience