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 遺伝性疾患の環境要因を識別するゲノミクスを活用します。 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 拡大ATXN3フレームシフトのイベントは、ショウジョウバエと哺乳類のニューロンモデルに有毒である Human Molecular Genetics. Feb, 2012 | Pubmed ID: 22337953 知的障害と橋小脳萎縮SPTAN1でのde Novo変異のフレームで、新規の同定 European Journal of Human Genetics : EJHG. Jan, 2012 | Pubmed ID: 22258530 少年筋萎縮性側索硬化症患者における小説FUS削除 Archives of Neurology. Jan, 2012 | Pubmed ID: 22248478 ExomeシーケンシングはJuvenile ALSを引き起こしSPG11遺伝子変異を明らかに Neurobiology of Aging. Apr, 2012 | Pubmed ID: 22154821 脳梁欠損症患者における先天性ミラー運動の神経生理学的研究 Brain Stimulation. Mar, 2011 | Pubmed ID: 22037131 電位依存性Na +チャンネルβ1B:ヒトてんかんに関与する分泌細胞接着分子 The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. Oct, 2011 | Pubmed ID: 21994374 神経変性におけるユビキリン2突然変異の役割 Nature Reviews. Neurology. Nov, 2011 | Pubmed ID: 21989241 筋萎縮性側索硬化症:新遺伝子、新モデル、新機構 F1000 Biology Reports. 2011 | Pubmed ID: 21941597 機能XPNPEP2プロモーターハプロタイプは削減プラズマアミノペプチダーゼP及びACE阻害薬誘発性血管浮腫のリスクの増加に導く Human Mutation. Nov, 2011 | Pubmed ID: 21898657 フランス系カナダ人のパーキンソン病コホートにおけるグルコセレブロシダーゼ遺伝子変異 The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. Sep, 2011 | Pubmed ID: 21856586 片頭痛:TRESK二細孔のカリウムチャネルの役割 The International Journal of Biochemistry & Cell Biology. Nov, 2011 | Pubmed ID: 21855646 編集者への手紙: "メキシコの家族でHSN2遺伝子における新規変異による遺伝性感覚自律神経障害II"へのコメント Journal of Neurology. Aug, 2011 | Pubmed ID: 21847616 FUSとTARDBPはなく、筋萎縮性側索硬化症の遺伝的モデルにおけるSOD1アクト PLoS Genetics. Aug, 2011 | Pubmed ID: 21829392 KIF1A、シナプス小胞の軸索輸送体は、遺伝性感覚自律神経障害2型に変異している American Journal of Human Genetics. Aug, 2011 | Pubmed ID: 21820098 悲しみの神経基板上へのRs4675690の初期の影響 Journal of Affective Disorders. Dec, 2011 | Pubmed ID: 21807415 ゲノムワイド関連研究では、2p14と16q12.1に新規レストレスレッグス症候群感受性遺伝子座の同定 PLoS Genetics. Jul, 2011 | Pubmed ID: 21779176 TDP-43のゲノム断片をプロデューストランスジェニックマウスにおける筋萎縮性側索硬化症/前頭側頭葉変性症の病理学的ホールマーク Brain : a Journal of Neurology. Sep, 2011 | Pubmed ID: 21752789 統合失調症患者で増加したエクソンのde Novo突然変異率 Nature Genetics. Sep, 2011 | Pubmed ID: 21743468 自閉症スペクトラム障害の遺伝的構造の継続的な解剖 Molecular Autism. 2011 | Pubmed ID: 21740537 むずむず脚症候群関連MEIS1リスクバリアント型(Variant)は、鉄の恒常性に影響を与える Annals of Neurology. Jul, 2011 | Pubmed ID: 21710629 筋萎縮性側索硬化症のリスク増加とロングATXN2 CAGリピートのサイズ協会 Archives of Neurology. Jun, 2011 | Pubmed ID: 21670397 人間の家族内との間のゲノムワイドな突然変異率の変動 Nature Genetics. Jul, 2011 | Pubmed ID: 21666693 カリウム塩化物共トランスポーター3の通過障害は脳梁欠損症と遺伝性運動感覚性ニューロパチーの主要な病原性メカニズムです。 The Journal of Biological Chemistry. Aug, 2011 | Pubmed ID: 21628467 遺伝子座特異的データベースの事例 Nature Reviews. Genetics. Jun, 2011 | Pubmed ID: 21540879 自閉症と部分てんかんでSYN1の機能喪失変異はシナプス機能障害の原因 Human Molecular Genetics. Jun, 2011 | Pubmed ID: 21441247 特発性精神遅滞のコピー数多型の検出のためのゲノムワイドアレイゲノムハイブリダイゼーションプラットフォームの比較 BMC Medical Genomics. 2011 | Pubmed ID: 21439053 自閉症スペクトラム障害と統合失調症でNRXN2とNRXN1に変異を切り捨てる Human Genetics. Oct, 2011 | Pubmed ID: 21424692 TARDPまたはFUS変異SOD1によるスプライシングに影響なし Archives of Neurology. Mar, 2011 | Pubmed ID: 21403029 ディープ順序制御を用いた神経障害の遺伝子のマッピングへの人口遺伝学的アプローチ PLoS Genetics. Feb, 2011 | Pubmed ID: 21383861 症候性知的障害におけるグルタミン酸システムに関連する遺伝子のde Novoの有害な突然変異の過剰 American Journal of Human Genetics. Mar, 2011 | Pubmed ID: 21376300 STXBP1破壊に関連付けられているてんかんなし知的障害 European Journal of Human Genetics : EJHG. May, 2011 | Pubmed ID: 21364700 A382P TDP-43変異を有する患者における感覚運動神経細胞傷害 Orphanet Journal of Rare Diseases. 2011 | Pubmed ID: 21294910 統合失調症の遺伝パズルの欠けている部分はどこですか? Current Opinion in Genetics & Development. Jun, 2011 | Pubmed ID: 21277191 フランス系カナダ人の人口でLINGO1バリアント PloS One. 2011 | Pubmed ID: 21264305 筋萎縮性側索硬化症の散発例における新規FUS変異の同定 Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. Mar, 2011 | Pubmed ID: 21261515 TAR DNA結合タンパク質43(TDP-43)G3BPとTIA-1の差動規制経由ストレス顆粒のダイナミクスを調節する Human Molecular Genetics. Apr, 2011 | Pubmed ID: 21257637 症候性知的障害と自閉症のデノボSYNGAP1変異 Biological Psychiatry. May, 2011 | Pubmed ID: 21237447 家族性および散発性筋萎縮性側索硬化症患者の29候補遺伝子の再配列 Archives of Neurology. May, 2011 | Pubmed ID: 21220648 P2RY11の共通のバリアントは、ナルコレプシーと関連している Nature Genetics. Jan, 2011 | Pubmed ID: 21170044 筋萎縮性側索硬化症と大家族でFUSスプライシング変異の同定 Journal of Human Genetics. Mar, 2011 | Pubmed ID: 21160488 マウスの中枢神経系におけるK +-CL-共輸送体のKCC3の細胞発現 Brain Research. Feb, 2011 | Pubmed ID: 21147077 RNF170遺伝子の変異は、常染色体優性感覚失調症の原因 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 筋萎縮性側索硬化症の原因遺伝子として、OPTNの解析 Neurobiology of Aging. Mar, 2011 | Pubmed ID: 21074290 むずむず脚症候群の母親と注意欠陥障害の子供:それらの間に何が起こった? Sleep Medicine. Jan, 2011 | Pubmed ID: 20851048 NSDHL原因CK症候群のHypomorphic温度感受性アレル American Journal of Human Genetics. Dec, 2010 | Pubmed ID: 21129721 知的障害、自閉症、言語障害のある症例でFOXP1のde Novoの変異 American Journal of Human Genetics. Nov, 2010 | Pubmed ID: 20950788 TRESKカリウムチャネルのドミナントネガティブ変異は、オーラと家族頭痛にリンクされています Nature Medicine. Oct, 2010 | Pubmed ID: 20871611 悲しみの神経相関の5-HTTLPR多型の初期の影響 Neuroscience Letters. 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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 [非症候性精神遅滞に関連付けられているSYNGAP1でのde Novo変異] Médecine Sciences : M/S. Feb, 2010 | Pubmed ID: 20188038 トゥレット症候群のフランス系カナダ人の家族のゲノムワイドなTDT解析 The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. Jan, 2010 | Pubmed ID: 20169783 筋ジストロフィー蛋白質を発現する線虫のサーチュイン阻害剤の特性は、特定のSirtinol類縁体による筋細胞と行動の保護を明らかに Journal of Medicinal Chemistry. Feb, 2010 | Pubmed ID: 20041717 DPP6の分析と筋萎縮性側索硬化症の候補遺伝子としてFGGY Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. Aug, 2010 | Pubmed ID: 20001489 TARDBP(TDP-43)のALSに関連する変異の関数のゲインと損失は、in Vivoで運動障害を引き起こす 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 筋萎縮性側索硬化症の危険因子と疾患発症の修飾子としてクロモグラニンB P413Lバリアント Proceedings of the National Academy of Sciences of the United States of America. Dec, 2009 | Pubmed ID: 20007371 500 K SNPアレイゲノムハイブリダイゼーションを用いた特発性知的障害児における病原コピー数多型の検出 BMC Genomics. 2009 | Pubmed ID: 19917086 SOD1にPseudoexonを作成変異は家族性ALSの原因 Annals of Human Genetics. Nov, 2009 | Pubmed ID: 19847927 運動ニューロン疾患の遺伝学:病原性のメカニズムに新たな洞察 Nature Reviews. Genetics. Nov, 2009 | Pubmed ID: 19823194 トゥレット症候群BTBD9遺伝子のイントロンの変異との関連 Archives of Neurology. Oct, 2009 | Pubmed ID: 19822783 神経変性疾患のショウジョウバエモデルにおけるクライミング欠陥の定量分析 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 신경과학
神経変性疾患のショウジョウバエモデルにおけるクライミング欠陥の定量分析 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 신경과학