Guy A. Rouleau, M.D., Ph.D. - Publications

Affiliations: 
Université de Montréal, Montréal, Canada 
Area:
Neurogenetics

460 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC, McConkie-Rosell A, McDonald M, Freedman SF, ... ... Rouleau GA, et al. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. American Journal of Human Genetics. 105: 854-868. PMID 31585109 DOI: 10.1016/j.ajhg.2019.09.005  0.64
2019 Liao C, Laporte AD, Spiegelman D, Akçimen F, Joober R, Dion PA, Rouleau GA. Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes. Nature Communications. 10: 4450. PMID 31575856 DOI: 10.1038/s41467-019-12450-9  0.76
2019 Sarayloo F, Dion PA, Rouleau GA. and Restless Legs Syndrome: A Comprehensive Review. Frontiers in Neurology. 10: 935. PMID 31551905 DOI: 10.3389/fneur.2019.00935  0.76
2019 Leveille E, Estiar MA, Krohn L, Spiegelman D, Dionne-Laporte A, Dupré N, Trempe JF, Rouleau GA, Gan-Or Z. SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia. Journal of Human Genetics. PMID 31515523 DOI: 10.1038/s10038-019-0669-2  0.64
2019 Zhou S, Xie P, Quoibion A, Ambalavanan A, Dionne-Laporte A, Spiegelman D, Bourassa CV, Xiong L, Dion PA, Rouleau GA. Genetic architecture and adaptations of Nunavik Inuit. Proceedings of the National Academy of Sciences of the United States of America. PMID 31332017 DOI: 10.1073/pnas.1810388116  0.76
2019 Beaudin M, Matilla-Dueñas A, Soong BW, Pedroso JL, Barsottini OG, Mitoma H, Tsuji S, Schmahmann JD, Manto M, Rouleau GA, Klein C, Dupre N. The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force. Cerebellum (London, England). PMID 31267374 DOI: 10.1007/s12311-019-01052-2  0.64
2019 Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, ... ... Rouleau GA, et al. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. American Journal of Human Genetics. 104: 1251. PMID 31173719 DOI: 10.1016/j.ajhg.2019.05.009  0.32
2019 Mullins N, Bigdeli TB, Børglum AD, Coleman JRI, Demontis D, Mehta D, Power RA, Ripke S, Stahl EA, Starnawska A, Anjorin A, Corvin A, Sanders AR, Forstner AJ, ... ... Rouleau GA, et al. GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores. The American Journal of Psychiatry. appiajp201918080957. PMID 31164008 DOI: 10.1176/appi.ajp.2019.18080957  0.88
2019 Diez-Fairen M, Bandres-Ciga S, Houle G, Nalls MA, Girard SL, Dion PA, Blauwendraat C, Singleton AB, Rouleau GA, Pastor P. Genome-wide estimates of heritability and genetic correlations in essential tremor. Parkinsonism & Related Disorders. PMID 31085086 DOI: 10.1016/j.parkreldis.2019.05.002  0.76
2019 Gama MTD, Braga-Neto P, Dutra LA, Alessi H, Maria LA, Gadelha AA, Ortiz BB, Kunii I, Correia-Silva SR, Dias da Silva MR, Dion PA, Rouleau GA, França MC, Barsottini OGP, Pedroso JL. Cognitive and Psychiatric Evaluation in SYNE1 Ataxia. Cerebellum (London, England). PMID 31049853 DOI: 10.1007/s12311-019-01033-5  0.76
2019 Stahl EA, Breen G, Forstner AJ, McQuillin A, Ripke S, Trubetskoy V, Mattheisen M, Wang Y, Coleman JRI, Gaspar HA, de Leeuw CA, Steinberg S, Pavlides JMW, Trzaskowski M, Byrne EM, ... ... Rouleau GA, et al. Genome-wide association study identifies 30 loci associated with bipolar disorder. Nature Genetics. PMID 31043756 DOI: 10.1038/s41588-019-0397-8  0.88
2019 Ross JP, Leblond CS, Catoire H, Volkening K, Strong M, Zinman L, Robertson J, Dion PA, Rouleau GA. Somatic expansion of the hexanucleotide repeat does not occur in ALS spinal cord tissues. Neurology. Genetics. 5: e317. PMID 31041398 DOI: 10.1212/NXG.0000000000000317  0.76
2019 Spataro R, Kousi M, Farhan SMK, Willer JR, Ross JP, Dion PA, Rouleau GA, Daly MJ, Neale BM, La Bella V, Katsanis N. Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion. Human Genomics. 13: 19. PMID 30992063 DOI: 10.1186/s40246-019-0203-9  0.76
2019 Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi M, ... ... Rouleau GA, et al. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. American Journal of Human Genetics. PMID 30929741 DOI: 10.1016/j.ajhg.2019.03.001  0.32
2019 Accogli A, Russell L, Sébire G, Rivière JB, St-Onge J, Addour-Boudrahem N, Laporte AD, Rouleau GA, Saint-Martin C, Srour M. Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia. Neurogenetics. PMID 30924036 DOI: 10.1007/s10048-019-00572-7  0.52
2019 Abu-Baker A, Kharma N, Perreault J, Grant A, Shekarabi M, Maios C, Dona M, Neri C, Dion PA, Parker A, Varin L, Rouleau GA. RNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement. Molecular Therapy. Nucleic Acids. 15: 12-25. PMID 30831428 DOI: 10.1016/j.omtn.2019.02.003  0.76
2019 Alcalay RN, Mallett V, Vanderperre B, Tavassoly O, Dauvilliers Y, Wu RYJ, Ruskey JA, Leblond CS, Ambalavanan A, Laurent SB, Spiegelman D, Dionne-Laporte A, Liong C, Levy OA, Fahn S, ... ... Rouleau GA, et al. SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 30788890 DOI: 10.1002/mds.27642  0.76
2018 Akçimen F, Spiegelman D, Dionne-Laporte A, Gan-Or Z, Dion PA, Rouleau GA. Screening of novel restless legs syndrome-associated genes in French-Canadian families. Neurology. Genetics. 4: e296. PMID 30637332 DOI: 10.1212/NXG.0000000000000296  0.76
2018 Shetty A, Gan-Or Z, Ashtiani S, Ruskey JA, van de Warrenburg B, Wassenberg T, Kamsteeg EJ, Rouleau GA, Suchowersky O. CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia. European Journal of Medical Genetics. PMID 30572172 DOI: 10.1016/j.ejmg.2018.12.010  0.32
2018 Lemay P, De Marco P, Traverso M, Merello E, Dionne-Laporte A, Spiegelman D, Henrion É, Diallo O, Audibert F, Michaud JL, Cama A, Rouleau GA, Kibar Z, Capra V. Whole exome sequencing identifies novel predisposing genes in neural tube defects. Molecular Genetics & Genomic Medicine. PMID 30415495 DOI: 10.1002/mgg3.467  0.64
2018 Leveille E, Gonorazky HD, Rioux MF, Hazrati LN, Ruskey JA, Carnevale A, Spiegelman D, Dionne-Laporte A, Rouleau GA, Yoon G, Gan-Or Z. Triple A syndrome presenting as complicated hereditary spastic paraplegia. Molecular Genetics & Genomic Medicine. PMID 30381913 DOI: 10.1002/mgg3.492  0.64
2018 Ambalavanan A, Chaumette B, Zhou S, Xie P, He Q, Spiegelman D, Dionne-Laporte A, Bourassa CV, Therrien M, Rochefort D, Xiong L, Dion PA, Joober R, Rapoport JL, Girard SL, ... Rouleau GA, et al. Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 30378261 DOI: 10.1002/ajmg.b.32683  0.76
2018 Liao C, Houle G, He Q, Laporte AD, Girard SL, Dion PA, Rouleau GA. Investigating the association and causal relationship between restless legs syndrome and essential tremor. Parkinsonism & Related Disorders. PMID 30366831 DOI: 10.1016/j.parkreldis.2018.10.022  0.76
2018 Schmouth JF, Houle G, Ambalavanan A, Leblond CS, Spiegelman D, Laurent SB, Bourassa CV, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Dion PA, Rouleau GA. Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases. Molecular Neurobiology. PMID 30315477 DOI: 10.1007/s12035-018-1369-1  0.76
2018 Catoire H, Sarayloo F, Mourabit Amari K, Apuzzo S, Grant A, Rochefort D, Xiong L, Montplaisir J, Earley CJ, Turecki G, Dion PA, Rouleau GA. A direct interaction between two Restless Legs Syndrome predisposing genes: MEIS1 and SKOR1. Scientific Reports. 8: 12173. PMID 30111810 DOI: 10.1038/s41598-018-30665-6  0.88
2018 Ouled Amar Bencheikh B, Leveille E, Ruskey JA, Spiegelman D, Liong C, Fon EA, Rouleau GA, Dauvilliers Y, Dupre N, Alcalay RN, Gan-Or Z. Sequencing of the GBA coactivator, Saposin C, in Parkinson disease. Neurobiology of Aging. PMID 30037697 DOI: 10.1016/j.neurobiolaging.2018.06.034  0.48
2018 Kalman JL, Papiol S, Forstner AJ, Heilbronner U, Degenhardt F, Strohmaier J, Adli M, Adorjan K, Akula N, Alda M, Anderson-Schmidt H, Andlauer TF, Anghelescu IG, Ardau R, Arias B, ... ... Rouleau GA, et al. Investigating polygenic burden in age at disease onset in bipolar disorder: Findings from an international multicentric study. Bipolar Disorders. PMID 29956436 DOI: 10.1111/bdi.12659  0.88
2018 Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, ... ... Rouleau GA, et al. Analysis of shared heritability in common disorders of the brain. Science (New York, N.Y.). 360. PMID 29930110 DOI: 10.1126/science.aap8757  0.84
2018 Reinbold CS, Forstner AJ, Hecker J, Fullerton JM, Hoffmann P, Hou L, Heilbronner U, Degenhardt F, Adli M, Akiyama K, Akula N, Ardau R, Arias B, Backlund L, Benabarre A, ... ... Rouleau GA, et al. Analysis of the Influence of microRNAs in Lithium Response in Bipolar Disorder. Frontiers in Psychiatry. 9: 207. PMID 29904359 DOI: 10.3389/fpsyt.2018.00207  0.88
2018 Chaumette B, Ferrafiat V, Ambalavanan A, Goldenberg A, Dionne-Laporte A, Spiegelman D, Dion PA, Gerardin P, Laurent C, Cohen D, Rapoport J, Rouleau GA. Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia. Molecular Psychiatry. PMID 29895895 DOI: 10.1038/s41380-018-0103-8  0.76
2018 Walcott BP, Winkler EA, Zhou S, Birk H, Guo D, Koch MJ, Stapleton CJ, Spiegelman D, Dionne-Laporte A, Dion PA, Kahle KT, Rouleau GA, Lawton MT. Identification of a rare pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing. Human Genome Variation. 5: 18001. PMID 29844917 DOI: 10.1038/hgv.2018.1  0.76
2018 Gama MTD, Piccinin CC, Rezende TJR, Dion PA, Rouleau GA, França Junior MC, Barsottini OGP, Pedroso JL. Multimodal neuroimaging analysis in patients with SYNE1 Ataxia. Journal of the Neurological Sciences. 390: 227-230. PMID 29801895 DOI: 10.1016/j.jns.2018.05.003  0.76
2018 Li J, Ruskey JA, Arnulf I, Dauvilliers Y, Hu MTM, Högl B, Leblond CS, Zhou S, Ambalavanan A, Ross JP, Bourassa CV, Spiegelman D, Laurent SB, Stefani A, Charley Monaca C, ... ... Rouleau GA, et al. Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 29756641 DOI: 10.1002/mds.27385  0.76
2018 Lyahyai J, Bencheikh BOA, Elalaoui SC, Mansouri M, Boualla L, DIonne-Laporte A, Spiegelman D, Dion PA, Cossette P, Rouleau GA, Sefiani A. Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report. Bmc Pediatrics. 18: 138. PMID 29665810 DOI: 10.1186/s12887-018-1114-y  0.76
2018 Wang B, Bao S, Zhang Z, Zhou X, Wang J, Fan Y, Zhang Y, Li Y, Chen L, Jia Y, Li J, Li M, Zheng W, Mu N, Wang L, ... ... Rouleau GA, et al. A rare variant in MLKL confers susceptibility to ApoE ɛ4-negative Alzheimer's disease in Hong Kong Chinese population. Neurobiology of Aging. PMID 29656768 DOI: 10.1016/j.neurobiolaging.2018.03.006  0.76
2018 Ouled Amar Bencheikh B, Ruskey JA, Arnulf I, Dauvilliers Y, Monaca CC, De Cock VC, Gagnon JF, Spiegelman D, Hu MTM, Högl B, Stefani A, Ferini-Strambi L, Plazzi G, Antelmi E, Young P, ... ... Rouleau GA, et al. LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder. Parkinsonism & Related Disorders. PMID 29576439 DOI: 10.1016/j.parkreldis.2018.03.019  0.76
2018 Zhou S, Gan-Or Z, Ambalavanan A, Lai D, Xie P, Bourassa CV, Strong S, Ross JP, Dionne-Laporte A, Spiegelman D, Dupré N, Foroud TM, Xiong L, Dion PA, Rouleau GA. Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population. Scientific Reports. 8: 4356. PMID 29531279 DOI: 10.1038/s41598-018-21603-7  0.76
2018 Gauthier J, Meijer IA, Lessel D, Mencacci NE, Krainc D, Hempel M, Tsiakas K, Prokisch H, Rossignol E, Helm MH, Rodan LH, Karamchandani J, Carecchio M, Lubbe SJ, Telegrafi A, ... ... Rouleau GA, et al. Recessive mutations in VPS13D cause childhood-onset movement disorders. Annals of Neurology. PMID 29518281 DOI: 10.1002/ana.25204  0.4
2018 Lyahyai J, Oulad Amar Bencheikh B, Elalaoui SC, Mansouri M, Boualla L, DIonne-Laporte A, Spiegelman D, Dion PA, Cossette P, Rouleau GA, Sefiani A. Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report. Bmc Pediatrics. 18: 90. PMID 29486744 DOI: 10.1186/s12887-018-1063-5  0.76
2018 Gan-Or Z, Alcalay RN, Rouleau GA, Postuma RB. Sleep disorders and Parkinson disease; lessons from genetics. Sleep Medicine Reviews. PMID 29449121 DOI: 10.1016/j.smrv.2018.01.006  0.32
2018 Zhou S, Dion PA, Rouleau GA. Genetics of Intracranial Aneurysms. Stroke. PMID 29437983 DOI: 10.1161/STROKEAHA.117.018152  0.76
2018 Accogli A, Hamdan FF, Poulin C, Nassif C, Rouleau GA, Michaud JL, Srour M. A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies. American Journal of Medical Genetics. Part A. PMID 29430868 DOI: 10.1002/ajmg.a.38628  0.4
2018 Mohtashami S, He Q, Ruskey JA, Zhou S, Dion PA, Allen RP, Earley CJ, Fon EA, Xiong L, Dupre N, Dauvilliers Y, Rouleau GA, Gan-Or Z. TOX3 Variants Are Involved in Restless Legs Syndrome and Parkinson's Disease with Opposite Effects. Journal of Molecular Neuroscience : Mn. PMID 29404899 DOI: 10.1007/s12031-018-1031-4  0.76
2018 Ross JP, Mohtashami S, Leveille E, Johnson AM, Xiong L, Dion PA, Fon E, Dauvilliers Y, Dupré N, Rouleau GA, Gan-Or Z. Association study of essential tremor genetic loci in Parkinson's disease. Neurobiology of Aging. PMID 29398123 DOI: 10.1016/j.neurobiolaging.2018.01.001  0.76
2017 Houle G, Ambalavanan A, Schmouth JF, Leblond CS, Spiegelman D, Laurent SB, Bourassa CV, Grayson C, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Girard SL, Dion PA, ... Rouleau GA, et al. No rare deleterious variants from , , and are associated with essential tremor. Neurology. Genetics. 3: e195. PMID 30584593 DOI: 10.1212/NXG.0000000000000195  0.76
2017 Boissel S, Fallet-Bianco C, Chitayat D, Kremer V, Nassif C, Rypens F, Delrue MA, Dal Soglio D, Oligny LL, Patey N, Flori E, Cloutier M, Dyment D, Campeau P, Karalis A, ... ... Rouleau GA, et al. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29261186 DOI: 10.1038/gim.2017.173  0.4
2017 Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, et al. POLR3A variants in hereditary spastic paraplegia and ataxia. Brain : a Journal of Neurology. PMID 29228109 DOI: 10.1093/brain/awx290  0.68
2017 Mühleisen TW, Reinbold CS, Forstner AJ, Abramova LI, Alda M, Babadjanova G, Bauer M, Brennan P, Chuchalin A, Cruceanu C, Czerski PM, Degenhardt F, Fischer SB, Fullerton JM, Gordon SD, ... ... Rouleau GA, et al. Gene set enrichment analysis and expression pattern exploration implicate an involvement of neurodevelopmental processes in bipolar disorder. Journal of Affective Disorders. 228: 20-25. PMID 29197740 DOI: 10.1016/j.jad.2017.11.068  0.88
2017 Mühleisen TW, Reinbold CS, Forstner AJ, Abramova LI, Alda M, Babadjanova G, Bauer M, Brennan P, Chuchalin A, Cruceanu C, Czerski PM, Degenhardt F, Fischer SB, Fullerton JM, Gordon SD, ... ... Rouleau GA, et al. Gene set enrichment analysis and expression pattern exploration implicate an involvement of neurodevelopmental processes in bipolar disorder. Journal of Affective Disorders. 228: 20-25. PMID 29197740 DOI: 10.1016/j.jad.2017.11.068  0.88
2017 Amare AT, Schubert KO, Hou L, Clark SR, Papiol S, Heilbronner U, Degenhardt F, Tekola-Ayele F, Hsu YH, Shekhtman T, Adli M, Akula N, Akiyama K, Ardau R, ... ... Rouleau GA, et al. 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. Jama Psychiatry. PMID 29121268 DOI: 10.1001/jamapsychiatry.2017.3433  0.88
2017 Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, ... ... Rouleau GA, et al. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. American Journal of Human Genetics. 101: 664-685. PMID 29100083 DOI: 10.1016/j.ajhg.2017.09.008  0.52
2017 Schormair B, Zhao C, Bell S, Tilch E, Salminen AV, Pütz B, Dauvilliers Y, Stefani A, Högl B, Poewe W, Kemlink D, Sonka K, Bachmann CG, Paulus W, Trenkwalder C, ... ... Rouleau GA, et al. Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis. The Lancet. Neurology. 16: 898-907. PMID 29029846 DOI: 10.1016/S1474-4422(17)30327-7  0.48
2017 Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, et al. FOXP1-related intellectual disability syndrome: a recognisable entity. Journal of Medical Genetics. PMID 28735298 DOI: 10.1136/jmedgenet-2017-104579  0.76
2017 Bowerman M, Salsac C, Bernard V, Soulard C, Dionne A, Coque E, Benlefki S, Hince P, Dion PA, Butler-Browne G, Camu W, Bouchard JP, Delpire E, Rouleau GA, Raoul C, et al. KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects. Neurobiology of Disease. PMID 28647557 DOI: 10.1016/j.nbd.2017.06.013  0.76
2017 Rivera B, Di Iorio M, Frankum J, Nadaf J, Fahiminiya S, Arcand SL, Burk DL, Grapton D, Tomiak E, Hastings V, Hamel N, Wagener R, Aleynikova O, Giroux S, Hamdan FF, ... ... Rouleau GA, et al. Functionally null RAD51D missense mutation associates strongly with ovarian carcinoma. Cancer Research. PMID 28646019 DOI: 10.1158/0008-5472.CAN-17-0190  0.64
2017 Skotte L, Koch A, Yakimov V, Zhou S, Søborg B, Andersson M, Michelsen SW, Navne JE, Mistry JM, Dion PA, Pedersen ML, Børresen ML, Rouleau GA, Geller F, Melbye M, et al. CPT1A Missense Mutation Associated With Fatty Acid Metabolism and Reduced Height in Greenlanders. Circulation. Cardiovascular Genetics. 10. PMID 28611031 DOI: 10.1161/CIRCGENETICS.116.001618  0.76
2017 Srour M, Shimokawa N, Hamdan FF, Nassif C, Poulin C, Al Gazali L, Rosenfeld JA, Koibuchi N, Rouleau GA, Al Shamsi A, Michaud JL. Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy. American Journal of Human Genetics. PMID 28434495 DOI: 10.1016/j.ajhg.2017.03.009  0.4
2017 Gan-Or Z, Ruskey JA, Spiegelman D, Arnulf I, Dauvilliers Y, Högl B, Monaca-Charley C, Postuma RB, Montplaisir JY, Rouleau GA. Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder. Brain : a Journal of Neurology. PMID 28379291 DOI: 10.1093/brain/awx076  0.76
2017 Lemay P, De Marco P, Emond A, Spiegelman D, Dionne-Laporte A, Laurent S, Merello E, Accogli A, Rouleau GA, Capra V, Kibar Z. Rare deleterious variants in GRHL3 are associated with human spina bifida. Human Mutation. PMID 28276201 DOI: 10.1002/humu.23214  0.64
2017 Beaudin M, Klein CJ, Rouleau GA, Dupré N. Systematic review of autosomal recessive ataxias and proposal for a classification. Cerebellum & Ataxias. 4: 3. PMID 28250961 DOI: 10.1186/s40673-017-0061-y  0.48
2017 Forstner AJ, Hecker J, Hofmann A, Maaser A, Reinbold CS, Mühleisen TW, Leber M, Strohmaier J, Degenhardt F, Treutlein J, Mattheisen M, Schumacher J, Streit F, Meier S, Herms S, ... ... Rouleau GA, et al. Identification of shared risk loci and pathways for bipolar disorder and schizophrenia. Plos One. 12: e0171595. PMID 28166306 DOI: 10.1371/journal.pone.0171595  0.88
2017 Houle G, Schmouth JF, Leblond CS, Ambalavanan A, Spiegelman D, Laurent SB, Bourassa CV, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Dion PA, Rouleau GA. Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 28158909 DOI: 10.1002/mds.26753  0.76
2017 Ross JP, Dupré N, Dauvilliers Y, Strong S, Dionne-Laporte A, Dion PA, Rouleau GA, Gan-Or Z. RIC3 variants are not associated with Parkinson's disease in French-Canadians and French. Neurobiology of Aging. PMID 28153381 DOI: 10.1016/j.neurobiolaging.2017.01.005  0.76
2017 Chrestian N, Dupré N, Gan-Or Z, Szuto A, Chen S, Venkitachalam A, Brisson JD, Warman-Chardon J, Ahmed S, Ashtiani S, MacDonald H, Mohsin N, Mourabit-Amari K, Provencher P, Boycott KM, ... ... Rouleau GA, et al. Clinical and genetic study of hereditary spastic paraplegia in Canada. Neurology. Genetics. 3: e122. PMID 27957547 DOI: 10.1212/NXG.0000000000000122  0.76
2016 Gan-Or Z, Zhou S, Johnson A, Montplaisir JY, Allen RP, Earley CJ, Desautels A, Dion PA, Xiong L, Rouleau GA. Case-Control and Family-Based Association Study of Specific Variants in Restless Legs Syndrome. Movement Disorders Clinical Practice. 3: 460-464. PMID 30363591 DOI: 10.1002/mdc3.12306  0.76
2016 Winkelmann J, Schormair B, Xiong L, Dion PA, Rye DB, Rouleau GA. Genetics of restless legs syndrome. Sleep Medicine. PMID 28065402 DOI: 10.1016/j.sleep.2016.10.012  0.76
2016 Gan-Or Z, Yoon G, Suchowersky O, Dupré N, Rouleau GA. KCNA2 mutations are rare in hereditary spastic paraplegia. Annals of Neurology. PMID 28019661 DOI: 10.1002/ana.24855  0.48
2016 Gan-Or Z, Rouleau GA, Benarroch EE. Dynamics of microtubules and their associated proteins: Recent insights and clinical implications. Neurology. 87: 2173. PMID 27906661 DOI: 10.1212/WNL.0000000000003444  0.32
2016 Gan-Or Z, Montplaisir JY, Ross JP, Poirier J, Warby SC, Arnulf I, Strong S, Dauvilliers Y, Leblond CS, Hu MT, Högl B, Stefani A, Monaca CC, De Cock VC, Boivin M, ... ... Rouleau GA, et al. The dementia-associated APOE ε4 allele is not associated with rapid eye movement sleep behavior disorder. Neurobiology of Aging. PMID 27814994 DOI: 10.1016/j.neurobiolaging.2016.10.002  0.76
2016 Müller SH, Girard SL, Hopfner F, Merner ND, Bourassa CV, Lorenz D, Clark LN, Tittmann L, Soto-Ortolaza AI, Klebe S, Hallett M, Schneider SA, Hodgkinson CA, Lieb W, Wszolek ZK, ... ... Rouleau GA, et al. Genome-wide association study in essential tremor identifies three new loci. Brain : a Journal of Neurology. PMID 27797806 DOI: 10.1093/brain/aww242  0.76
2016 Zhou S, Ambalavanan A, Rochefort D, Xie P, Bourassa CV, Hince P, Dionne-Laporte A, Spiegelman D, Gan-Or Z, Mirarchi C, Zaharieva V, Dupré N, Kobayashi H, Hitomi T, Harada K, ... ... Rouleau GA, et al. RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population. American Journal of Human Genetics. PMID 27745834 DOI: 10.1016/j.ajhg.2016.09.001  0.76
2016 Diomedi M, Gan-Or Z, Placidi F, Dion PA, Szuto A, Bengala M, Rouleau GA, Gigli GL. A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia. European Journal of Medical Genetics. PMID 27725288 DOI: 10.1016/j.ejmg.2016.10.003  0.76
2016 Girard SL, Bourassa CV, Lemieux Perreault LP, Legault MA, Barhdadi A, Ambalavanan A, Brendgen M, Vitaro F, Noreau A, Dionne G, Tremblay RE, Dion PA, Boivin M, Dubé MP, Rouleau GA. Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals. Plos One. 11: e0164212. PMID 27723766 DOI: 10.1371/journal.pone.0164212  1
2016 Pal GD, Hall D, Ouyang B, Phelps J, Alcalay R, Pauciulo MW, Nichols WC, Clark L, Mejia-Santana H, Blasucci L, Goetz CG, Comella C, Colcher A, Gan-Or Z, Rouleau GA, et al. Genetic and Clinical Predictors of Deep Brain Stimulation in Young-Onset Parkinson's Disease. Movement Disorders Clinical Practice. 3: 465-471. PMID 27709117 DOI: 10.1002/mdc3.12309  0.32
2016 Gama MT, Houle G, Noreau A, Dionne-Laporte A, Dion PA, Rouleau GA, Barsottini OG, Pedroso JL. SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 27671794 DOI: 10.1002/mds.26810  0.76
2016 Mallett V, Ross JP, Alcalay RN, Ambalavanan A, Sidransky E, Dion PA, Rouleau GA, Gan-Or Z. GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis. Neurology. Genetics. 2: e104. PMID 27648471 DOI: 10.1212/NXG.0000000000000104  0.76
2016 Gan-Or Z, Rouleau GA. Calpain 1 in neurodegeneration: a therapeutic target? The Lancet. Neurology. 15: 1118. PMID 27647640 DOI: 10.1016/S1474-4422(16)30175-2  0.32
2016 Mahmud AA, Nahid NA, Nassif C, Sayeed MS, Ahmed MU, Parveen M, Khalil MI, Islam MM, Nahar Z, Rypens F, Hamdan FF, Rouleau GA, Hasnat A, Michaud JL. Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures. Clinical Genetics. PMID 27607563 DOI: 10.1111/cge.12850  0.4
2016 Cruceanu C, Kutsarova E, Chen ES, Checknita DR, Nagy C, Lopez JP, Alda M, Rouleau GA, Turecki G. DNA hypomethylation of Synapsin II CpG islands associates with increased gene expression in bipolar disorder and major depression. Bmc Psychiatry. 16: 286. PMID 27515700 DOI: 10.1186/s12888-016-0989-0  0.88
2016 Thomas RA, Ambalavanan A, Rouleau GA, Barker PA. Identification of genetic variants of LGI1 and RTN4R (NgR1) linked to schizophrenia that are defective in NgR1-LGI1 signaling. Molecular Genetics & Genomic Medicine. 4: 447-456. PMID 27468420 DOI: 10.1002/mgg3.215  0.48
2016 Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, ... ... Rouleau GA, et al. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nature Genetics. PMID 27455347 DOI: 10.1038/ng.3626  1
2016 Walcott BP, Winkler EA, Rouleau GA, Lawton MT. Molecular, Cellular, and Genetic Determinants of Sporadic Brain Arteriovenous Malformations. Neurosurgery. 63: 37-42. PMID 27399362 DOI: 10.1227/NEU.0000000000001300  1
2016 Hou L, Bergen SE, Akula N, Song J, Hultman CM, Landén M, Adli M, Alda M, Ardau R, Arias B, Aubry JM, Backlund L, Badner JA, Barrett TB, Bauer M, ... ... Rouleau GA, et al. Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder. Human Molecular Genetics. PMID 27329760 DOI: 10.1093/hmg/ddw181  0.88
2016 Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Vérièpe J, Androschuk A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, ... ... Rouleau GA, et al. Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. American Journal of Human Genetics. 98: 1271. PMID 27259058 DOI: 10.1016/j.ajhg.2016.05.009  0.76
2016 Ross JP, Dupre N, Dauvilliers Y, Strong S, Ambalavanan A, Spiegelman D, Dionne-Laporte A, Pourcher E, Langlois M, Boivin M, Leblond CS, Dion PA, Rouleau GA, Gan-Or Z. Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease. Neurobiology of Aging. PMID 27236598 DOI: 10.1016/j.neurobiolaging.2016.04.023  0.76
2016 Auer RN, Laganière JL, Robitaille YO, Richardson J, Dion PA, Rouleau GA, Shekarabi M. KCC3 axonopathy: neuropathological features in the central and peripheral nervous system. Modern Pathology : An Official Journal of the United States and Canadian Academy of Pathology, Inc. PMID 27230413 DOI: 10.1038/modpathol.2016.90  0.76
2016 Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Vérièpe J, Androschuck A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, ... ... Rouleau GA, et al. Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. American Journal of Human Genetics. 98: 1038-1046. PMID 27153400 DOI: 10.1016/j.ajhg.2016.04.002  1
2016 Gan-Or Z, Mohsin N, Girard SL, Montplaisir JY, Ambalavanan A, Strong S, Mallett V, Laurent SB, Bourassa CV, Boivin M, Langlois M, Arnulf I, Högl B, Frauscher B, Monaca C, ... ... Rouleau GA, et al. The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder. Neurobiology of Aging. PMID 27131830 DOI: 10.1016/j.neurobiolaging.2016.03.029  1
2016 Leblond CS, Webber A, Gan-Or Z, Moore F, Dagher A, Dion PA, Rouleau GA. De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia. Neurology. Genetics. 2: e63. PMID 27123482 DOI: 10.1212/NXG.0000000000000063  0.76
2016 Therrien M, Rouleau GA, Dion PA, Parker JA. FET proteins regulate lifespan and neuronal integrity. Scientific Reports. 6: 25159. PMID 27117089 DOI: 10.1038/srep25159  1
2016 Therrien M, Dion PA, Rouleau GA. ALS: Recent Developments from Genetics Studies. Current Neurology and Neuroscience Reports. 16: 59. PMID 27113253 DOI: 10.1007/s11910-016-0658-1  1
2016 Alcalay RN, Levy OA, Wolf P, Oliva P, Zhang XK, Waters CH, Fahn S, Kang U, Liong C, Ford B, Mazzoni P, Kuo S, Johnson A, Xiong L, Rouleau GA, et al. SCARB2 variants and glucocerebrosidase activity in Parkinson's disease. Npj Parkinson's Disease. 2. PMID 27110593 DOI: 10.1038/npjparkd.2016.4  0.48
2016 Williams KL, Topp S, Yang S, Smith B, Fifita JA, Warraich ST, Zhang KY, Farrawell N, Vance C, Hu X, Chesi A, Leblond CS, Lee A, Rayner SL, Sundaramoorthy V, ... ... Rouleau GA, et al. CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia. Nature Communications. 7: 11253. PMID 27080313 DOI: 10.1038/ncomms11253  1
2016 Kahle KT, Schmouth JF, Lavastre V, Latremoliere A, Zhang J, Andrews N, Omura T, Laganière J, Rochefort D, Hince P, Castonguay G, Gaudet R, Mapplebeck JC, Sotocinal SG, Duan J, ... ... Rouleau GA, et al. Inhibition of the kinase WNK1/HSN2 ameliorates neuropathic pain by restoring GABA inhibition. Science Signaling. 9: ra32. PMID 27025876 DOI: 10.1126/scisignal.aad0163  0.76
2016 Merner ND, Mercado A, Khanna AR, Hodgkinson A, Bruat V, Awadalla P, Gamba G, Rouleau GA, Kahle KT. Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia. Journal of Psychiatric Research. 77: 22-26. PMID 26955005 DOI: 10.1016/j.jpsychires.2016.02.016  1
2016 Niblock M, Smith BN, Lee YB, Sardone V, Topp S, Troakes C, Al-Sarraj S, Leblond CS, Dion PA, Rouleau GA, Shaw CE, Gallo JM. Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD. Acta Neuropathologica Communications. 4: 18. PMID 26916632 DOI: 10.1186/s40478-016-0289-4  0.76
2016 Hou L, Heilbronner U, Degenhardt F, Adli M, Akiyama K, Akula N, Ardau R, Arias B, Backlund L, Banzato CE, Benabarre A, Bengesser S, Bhattacharjee AK, Biernacka JM, Birner A, ... ... Rouleau GA, et al. Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study. Lancet (London, England). PMID 26806518 DOI: 10.1016/S0140-6736(16)00143-4  1
2016 Merner N, Forgeot d'Arc B, Bell SC, Maussion G, Peng H, Gauthier J, Crapper L, Hamdan FF, Michaud JL, Mottron L, Rouleau GA, Ernst C. A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. American Journal of Medical Genetics. Part A. PMID 26789910 DOI: 10.1002/ajmg.a.37566  1
2016 Julien C, Lissouba A, Madabattula S, Fardghassemi Y, Rosenfelt C, Androschuk A, Strautman J, Wong C, Bysice A, O'Sullivan J, Rouleau GA, Drapeau P, Parker JA, Bolduc FV. Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms. Human Molecular Genetics. PMID 26744324 DOI: 10.1093/hmg/ddv632  1
2015 Benedet AL, Labbe A, Lemay P, Zimmer ER, Pascoal TA, Leuzy A, Mathotaarachchi S, Mohades S, Shin M, Dionne-Laporte A, Beaudry T, Picard C, Gauthier S, Poirier J, Rouleau G, et al. Epistasis analysis links immune cascades and cerebral amyloidosis. Journal of Neuroinflammation. 12: 227. PMID 26626881 DOI: 10.1186/s12974-015-0436-z  1
2015 Choquet K, Tétreault M, Yang S, La Piana R, Dicaire MJ, Vanstone MR, Mathieu J, Bouchard JP, Rioux MF, Rouleau GA, Boycott KM, Majewski J, Brais B. SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. European Journal of Human Genetics : Ejhg. PMID 26626314 DOI: 10.1038/ejhg.2015.240  1
2015 Richer F, Daghfal R, Rouleau GA, Lespérance P, Chouinard S. Clinical features associated with an early onset in chronic tic disorders. Psychiatry Research. PMID 26596364 DOI: 10.1016/j.psychres.2015.11.018  1
2015 Forstner AJ, Hofmann A, Maaser A, Sumer S, Khudayberdiev S, Mühleisen TW, Leber M, Schulze TG, Strohmaier J, Degenhardt F, Treutlein J, Mattheisen M, Schumacher J, Breuer R, Meier S, ... ... Rouleau GA, et al. Genome-wide analysis implicates microRNAs and their target genes in the development of bipolar disorder. Translational Psychiatry. 5: e678. PMID 26556287 DOI: 10.1038/tp.2015.159  1
2015 Hamdan FF, Perrault I, Rio M, Capo-Chichi JM, Boddaert N, Décarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gérard X, Barcia G, Berquin P, ... ... Rouleau GA, et al. Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. International Journal of Developmental Neuroscience : the Official Journal of the International Society For Developmental Neuroscience. 47: 119-20. PMID 26531641 DOI: 10.1016/j.ijdevneu.2015.04.319  0.4
2015 Merner ND, Chandler MR, Bourassa C, Liang B, Khanna AR, Dion P, Rouleau GA, Kahle KT. Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia. Frontiers in Cellular Neuroscience. 9: 386. PMID 26528127 DOI: 10.3389/fncel.2015.00386  1
2015 Ambalavanan A, Girard SL, Ahn K, Zhou S, Dionne-Laporte A, Spiegelman D, Bourassa CV, Gauthier J, Hamdan FF, Xiong L, Dion PA, Joober R, Rapoport J, Rouleau GA. De novo variants in sporadic cases of childhood onset schizophrenia. European Journal of Human Genetics : Ejhg. PMID 26508570 DOI: 10.1038/ejhg.2015.218  1
2015 Leblond CS, Gan-Or Z, Spiegelman D, Laurent SB, Szuto A, Hodgkinson A, Dionne-Laporte A, Provencher P, de Carvalho M, Orrù S, Brunet D, Bouchard JP, Awadalla P, Dupré N, Dion PA, ... Rouleau GA, et al. Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis. Neurobiology of Aging. PMID 26493020 DOI: 10.1016/j.neurobiolaging.2015.09.013  0.76
2015 Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, ... ... Rouleau GA, et al. Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. American Journal of Human Genetics. PMID 26477546 DOI: 10.1016/j.ajhg.2015.09.009  1
2015 Gan-Or Z, Mirelman A, Postuma RB, Arnulf I, Bar-Shira A, Dauvilliers Y, Desautels A, Gagnon JF, Leblond CS, Frauscher B, Alcalay RN, Saunders-Pullman R, Bressman SB, Marder K, Monaca C, ... ... Rouleau GA, et al. GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder. Annals of Clinical and Translational Neurology. 2: 941-5. PMID 26401515 DOI: 10.1002/acn3.228  0.76
2015 Gan-Or Z, Orr-Urtreger A, Alcalay RN, Bressman S, Giladi N, Rouleau GA. The emerging role of SMPD1 mutations in Parkinson's disease: Implications for future studies. Parkinsonism & Related Disorders. 21: 1294-5. PMID 26320887 DOI: 10.1016/j.parkreldis.2015.08.018  1
2015 Gan-Or Z, Zhou S, Ambalavanan A, Leblond CS, Xie P, Johnson A, Spiegelman D, Allen RP, Earley CJ, Desautels A, Montplaisir JY, Dion PA, Xiong L, Rouleau GA. Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome. Sleep Medicine. 16: 1151-5. PMID 26298793 DOI: 10.1016/j.sleep.2015.06.002  1
2015 Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Chardon JW, Chitayat D, Deladoëy J, Fernandez BA, ... ... Rouleau GA, et al. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clinical Genetics. PMID 26283276 DOI: 10.1111/cge.12654  1
2015 Daoud H, Papadima EM, Bencheikh BO, Katsila T, Dionne-Laporte A, Spiegelman D, Dion PA, Patrinos GP, Orrù S, Rouleau GA. Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia. European Journal of Medical Genetics. PMID 26260707 DOI: 10.1016/j.ejmg.2015.08.001  1
2015 Noreau A, La Piana R, Marcoux C, Dion PA, Brais B, Bernard G, Rouleau GA. Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family. Neurogenetics. PMID 26260654 DOI: 10.1007/s10048-015-0455-z  1
2015 Bourassa CV, Raskin S, Serafini S, Teive HA, Dion PA, Rouleau GA. A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia. Jama Neurology. 72: 942-3. PMID 26258735 DOI: 10.1001/jamaneurol.2015.0888  1
2015 Cruceanu C, Tan PP, Rogic S, Lopez JP, Torres-Platas SG, Gigek CO, Alda M, Rouleau GA, Pavlidis P, Turecki G. Transcriptome Sequencing of the Anterior Cingulate in Bipolar Disorder: Dysregulation of G Protein-Coupled Receptors. The American Journal of Psychiatry. appiajp201514101279. PMID 26238605 DOI: 10.1176/appi.ajp.2015.14101279  1
2015 Gan-Or Z, Dion PA, Rouleau GA. Genetic perspective on the role of the Autophagy-Lysosome Pathway in Parkinson disease. Autophagy. 0. PMID 26207393 DOI: 10.1080/15548627.2015.1067364  1
2015 Jouan L, Ouled Amar Bencheikh B, Daoud H, Dionne-Laporte A, Dobrzeniecka S, Spiegelman D, Rochefort D, Hince P, Szuto A, Lassonde M, Barbelanne M, Tsang WY, Dion PA, Théoret H, Rouleau GA. Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum. European Journal of Human Genetics : Ejhg. PMID 26197979 DOI: 10.1038/ejhg.2015.156  1
2015 Madabattula ST, Strautman JC, Bysice AM, O'Sullivan JA, Androschuk A, Rosenfelt C, Doucet K, Rouleau G, Bolduc F. Quantitative Analysis of Climbing Defects in a Drosophila Model of Neurodegenerative Disorders. Journal of Visualized Experiments : Jove. e52741. PMID 26132637 DOI: 10.3791/52741  1
2015 Alcalay RN, Levy OA, Waters CC, Fahn S, Ford B, Kuo SH, Mazzoni P, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Wolf P, Oliva P, Keutzer J, et al. Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations. Brain : a Journal of Neurology. PMID 26117366 DOI: 10.1093/brain/awv179  1
2015 Girard SL, Dion PA, Bourassa CV, Geoffroy S, Lachance-Touchette P, Barhdadi A, Langlois M, Joober R, Krebs MO, Dubé MP, Rouleau GA. Mutation burden of rare variants in schizophrenia candidate genes. Plos One. 10: e0128988. PMID 26039597 DOI: 10.1371/journal.pone.0128988  1
2015 Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, ... ... Rouleau G, et al. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain : a Journal of Neurology. PMID 26026163 DOI: 10.1093/brain/awv143  1
2015 Zhou S, Xiong L, Xie P, Ambalavanan A, Bourassa CV, Dionne-Laporte A, Spiegelman D, Turcotte Gauthier M, Henrion E, Diallo O, Dion PA, Rouleau GA. Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population. Plos One. 10: e0128255. PMID 26010953 DOI: 10.1371/journal.pone.0128255  1
2015 Gan-Or Z, Leblond CS, Mallett V, Orr-Urtreger A, Dion PA, Rouleau GA. LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis. Parkinsonism & Related Disorders. 21: 778-82. PMID 25962553 DOI: 10.1016/j.parkreldis.2015.05.002  1
2015 Srour M, Hamdan FF, Gan-Or Z, Labuda D, Nassif C, Oskoui M, Gana-Weisz M, Orr-Urtreger A, Rouleau GA, Michaud JL. A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. Clinical Genetics. 88: e1-4. PMID 25930971 DOI: 10.1111/cge.12605  1
2015 Gan-Or Z, Girard SL, Noreau A, Leblond CS, Gagnon JF, Arnulf I, Mirarchi C, Dauvilliers Y, Desautels A, Mitterling T, Cochen De Cock V, Frauscher B, Monaca C, Hogl B, Dion PA, ... ... Rouleau GA, et al. Parkinson's Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder. Journal of Molecular Neuroscience : Mn. 56: 617-22. PMID 25929833 DOI: 10.1007/s12031-015-0569-7  1
2015 Gonzalez-Perez P, Woehlbier U, Chian RJ, Sapp P, Rouleau GA, Leblond CS, Daoud H, Dion PA, Landers JE, Hetz C, Brown RH. Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients. Gene. 566: 158-65. PMID 25913742 DOI: 10.1016/j.gene.2015.04.035  1
2015 Wright FA, Lu JP, Sliter DA, Dupré N, Rouleau GA, Wojcikiewicz RJ. 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. 290: 13948-57. PMID 25882839 DOI: 10.1074/jbc.M115.655043  1
2015 Lattante S, Ciura S, Rouleau GA, Kabashi E. Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD). Trends in Genetics : Tig. 31: 263-73. PMID 25869998 DOI: 10.1016/j.tig.2015.03.005  1
2015 Aoyagi K, Rossignol E, Hamdan FF, Mulcahy B, Xie L, Nagamatsu S, Rouleau GA, Zhen M, Michaud JL. A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis. Human Mutation. 36: 753-7. PMID 25864427 DOI: 10.1002/humu.22797  1
2015 Gan-Or Z, Alcalay RN, Bar-Shira A, Leblond CS, Postuma RB, Ben-Shachar S, Waters C, Johnson A, Levy O, Mirelman A, Gana-Weisz M, Dupré N, Montplaisir J, Giladi N, Fahn S, ... ... Rouleau GA, et al. Genetic markers of Restless Legs Syndrome in Parkinson disease. Parkinsonism & Related Disorders. 21: 582-5. PMID 25817513 DOI: 10.1016/j.parkreldis.2015.03.010  1
2015 Legault MA, Girard S, Lemieux Perreault LP, Rouleau GA, Dubé MP. Comparison of sequencing based CNV discovery methods using monozygotic twin quartets. Plos One. 10: e0122287. PMID 25812131 DOI: 10.1371/journal.pone.0122287  1
2015 Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, ... ... Rouleau GA, et al. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain : a Journal of Neurology. 138: 1505-17. PMID 25808372 DOI: 10.1093/brain/awv057  1
2015 Lemay P, Guyot MC, Tremblay É, Dionne-Laporte A, Spiegelman D, Henrion É, Diallo O, De Marco P, Merello E, Massicotte C, Désilets V, Michaud JL, Rouleau GA, Capra V, Kibar Z. Loss-of-function de novo mutations play an important role in severe human neural tube defects. Journal of Medical Genetics. 52: 493-7. PMID 25805808 DOI: 10.1136/jmedgenet-2015-103027  1
2015 Farlow JL, Lin H, Sauerbeck L, Lai D, Koller DL, Pugh E, Hetrick K, Ling H, Kleinloog R, van der Vlies P, Deelen P, Swertz MA, Verweij BH, Regli L, Rinkel GJ, et al. Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm. Plos One. 10: e0121104. PMID 25803036 DOI: 10.1371/journal.pone.0121104  1
2015 Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, Ren Z, Keebler J, Han Y, Levy SE, Boone BE, ... ... Rouleau GA, et al. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science (New York, N.Y.). 347: 1436-41. PMID 25700176 DOI: 10.1126/science.aaa3650  1
2015 Hirschtritt ME, Lee PC, Pauls DL, Dion Y, Grados MA, Illmann C, King RA, Sandor P, McMahon WM, Lyon GJ, Cath DC, Kurlan R, Robertson MM, Osiecki L, Scharf JM, et al. Lifetime prevalence, age of risk, and genetic relationships of comorbid psychiatric disorders in Tourette syndrome. Jama Psychiatry. 72: 325-33. PMID 25671412 DOI: 10.1001/jamapsychiatry.2014.2650  1
2015 Capo-Chichi JM, Boissel S, Brustein E, Pickles S, Fallet-Bianco C, Nassif C, Patry L, Dobrzeniecka S, Liao M, Labuda D, Samuels ME, Hamdan FF, Vande Velde C, Rouleau GA, Drapeau P, et al. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. Journal of Medical Genetics. 52: 303-11. PMID 25650066 DOI: 10.1136/jmedgenet-2014-102952  1
2015 Hunsberger JG, Chibane FL, Elkahloun AG, Henderson R, Singh R, Lawson J, Cruceanu C, Nagarajan V, Turecki G, Squassina A, Medeiros CD, Del Zompo M, Rouleau GA, Alda M, Chuang DM. Novel integrative genomic tool for interrogating lithium response in bipolar disorder. Translational Psychiatry. 5: e504. PMID 25646593 DOI: 10.1038/tp.2014.139  1
2015 Patten SA, Margaritte-Jeannin P, Bernard JC, Alix E, Labalme A, Besson A, Girard SL, Fendri K, Fraisse N, Biot B, Poizat C, Campan-Fournier A, Abelin-Genevois K, Cunin V, Zaouter C, ... ... Rouleau GA, et al. Functional variants of POC5 identified in patients with idiopathic scoliosis. The Journal of Clinical Investigation. 125: 1124-8. PMID 25642776 DOI: 10.1172/JCI77262  1
2015 Paré B, Touzel-Deschênes L, Lamontagne R, Lamarre MS, Scott FD, Khuong HT, Dion PA, Bouchard JP, Gould P, Rouleau GA, Dupré N, Berthod F, Gros-Louis F. Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients. Acta Neuropathologica Communications. 3: 5. PMID 25637145 DOI: 10.1186/s40478-014-0181-z  0.76
2015 Mackey J, Brown RD, Sauerbeck L, Hornung R, Moomaw CJ, Koller DL, Foroud T, Deka R, Woo D, Kleindorfer D, Flaherty ML, Meissner I, Anderson C, Rouleau G, Connolly ES, et al. Affected twins in the familial intracranial aneurysm study. Cerebrovascular Diseases (Basel, Switzerland). 39: 82-6. PMID 25571891 DOI: 10.1159/000369961  1
2015 Cruceanu C, Alda M, Dion PA, Turecki G, Rouleau GA. No evidence for GADL1 variation as a bipolar disorder susceptibility factor in a Caucasian lithium-responsive cohort. The American Journal of Psychiatry. 172: 94-5. PMID 25553497 DOI: 10.1176/appi.ajp.2014.14070855  1
2015 Kaneb HM, Folkmann AW, Belzil VV, Jao LE, Leblond CS, Girard SL, Daoud H, Noreau A, Rochefort D, Hince P, Szuto A, Levert A, Vidal S, André-Guimont C, Camu W, ... ... Rouleau GA, et al. Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis. Human Molecular Genetics. 24: 1363-73. PMID 25343993 DOI: 10.1093/hmg/ddu545  1
2015 Lee JR, Srour M, Kim D, Hamdan FF, Lim SH, Brunel-Guitton C, Décarie JC, Rossignol E, Mitchell GA, Schreiber A, Moran R, Van Haren K, Richardson R, Nicolai J, Oberndorff KM, ... ... Rouleau GA, et al. De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. Human Mutation. 36: 69-78. PMID 25265257 DOI: 10.1002/humu.22709  1
2015 Yu D, Mathews CA, Scharf JM, Neale BM, Davis LK, Gamazon ER, Derks EM, Evans P, Edlund CK, Crane J, Fagerness JA, Osiecki L, Gallagher P, Gerber G, Haddad S, ... ... Rouleau GA, et al. Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. The American Journal of Psychiatry. 172: 82-93. PMID 25158072 DOI: 10.1176/appi.ajp.2014.13101306  0.4
2014 Fasano A, Bologna M, Iezzi E, Pavone L, Srour M, Di Biasio F, Grillea G, Rouleau GA, Levert A, Sebastiano F, Colonnese C, Berardelli A. Congenital Mirror Movements in a New Italian Family. Movement Disorders Clinical Practice. 1: 180-187. PMID 30713853 DOI: 10.1002/mdc3.12066  0.48
2014 Noreau A, Beauchemin P, Dionne-Laporte A, Dion PA, Rouleau GA, Dupré N. Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum. Cerebellum & Ataxias. 1: 8. PMID 26331032 DOI: 10.1186/2053-8871-1-8  0.76
2014 Kebir O, Chaumette B, Fatjó-Vilas M, Ambalavanan A, Ramoz N, Xiong L, Mouaffak F, Millet B, Jaafari N, DeLisi LE, Levinson D, Joober R, Fañanás L, Rouleau G, Dubertret C, et al. Family-based association study of common variants, rare mutation study and epistatic interaction detection in HDAC genes in schizophrenia. Schizophrenia Research. 160: 97-103. PMID 25445625 DOI: 10.1016/j.schres.2014.09.029  1
2014 Mansouri M, Chafai Elalaoui S, Ouled Amar Bencheikh B, El Alloussi M, Dion PA, Sefiani A, Rouleau GA. A novel nonsense mutation in SCN9A in a Moroccan child with congenital insensitivity to pain. Pediatric Neurology. 51: 741-4. PMID 25439579 DOI: 10.1016/j.pediatrneurol.2014.06.009  1
2014 Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF. A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. European Journal of Human Genetics : Ejhg. PMID 25407000 DOI: 10.1038/ejhg.2014.256  1
2014 Daoud H, Postuma RB, Bourassa CV, Rochefort D, Gauthier MT, Montplaisir J, Gagnon JF, Arnulf I, Dauvilliers Y, Charley CM, Inoue Y, Sasai T, Högl B, Desautels A, Frauscher B, ... ... Rouleau GA, et al. C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 41: 759-62. PMID 25377888 DOI: 10.1017/cjn.2014.39  1
2014 Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, ... ... Rouleau GA, et al. Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. Neuron. 84: 324-31. PMID 25374358 DOI: 10.1016/j.neuron.2014.09.027  0.76
2014 Hamdan FF, Srour M, Capo-Chichi JM, Daoud H, Nassif C, Patry L, Massicotte C, Ambalavanan A, Spiegelman D, Diallo O, Henrion E, Dionne-Laporte A, Fougerat A, Pshezhetsky AV, Venkateswaran S, ... Rouleau GA, et al. De novo mutations in moderate or severe intellectual disability. Plos Genetics. 10: e1004772. PMID 25356899 DOI: 10.1371/journal.pgen.1004772  1
2014 Boughrassa F, Framarin A, Bellavance C, Carrier C, Delorme L, Déry V, Gervais Y, Girard M, Lavoie MJ, Leclerc P, Levert É, Paradis A, Rivard C, Rizcallah E, Rouleau G, et al. Recommendations for the appropriate use of 14 laboratory tests in Québec | Recommandations québécoises sur l'usage judicieux de 14 analyses biomédicales Annales De Biologie Clinique. 72: 513-526. PMID 25336125 DOI: 10.1684/abc.2014.0984  1
2014 Foroud T, Lai D, Koller D, Van't Hof F, Kurki MI, Anderson CS, Brown RD, Connolly ES, Eriksson JG, Flaherty M, Fornage M, von Und Zu Fraunberg M, Gaál EI, Laakso A, Hernesniemi J, ... ... Rouleau G, et al. Genome-wide association study of intracranial aneurysm identifies a new association on chromosome 7. Stroke; a Journal of Cerebral Circulation. 45: 3194-9. PMID 25256182 DOI: 10.1161/STROKEAHA.114.006096  1
2014 Lacerte A, Chouinard S, Jodoin N, Bernard G, Rouleau GA, Panisset M. Increased Prevalence of Non-motor Symptoms in Essential Tremor. Tremor and Other Hyperkinetic Movements (New York, N.Y.). 4: 162. PMID 25247108 DOI: 10.7916/D82V2D91  0.36
2014 Habak C, Noreau A, Nagano-Saito A, Mejía-Constaín B, Degroot C, Strafella AP, Chouinard S, Lafontaine AL, Rouleau GA, Monchi O. Dopamine transporter SLC6A3 genotype affects cortico-striatal activity of set-shifts in Parkinson's disease. Brain : a Journal of Neurology. 137: 3025-35. PMID 25212851 DOI: 10.1093/brain/awu251  0.64
2014 Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, ... ... Rouleau GA, et al. Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. Plos Genetics. 10: e1004580. PMID 25188300 DOI: 10.1371/journal.pgen.1004580  1
2014 Mottron L, Belleville S, Rouleau GA, Collignon O. Linking neocortical, cognitive, and genetic variability in autism with alterations of brain plasticity: the Trigger-Threshold-Target model. Neuroscience and Biobehavioral Reviews. 47: 735-52. PMID 25155242 DOI: 10.1016/j.neubiorev.2014.07.012  1
2014 Arkadir D, Noreau A, Goldman JS, Rouleau GA, Alcvalay RN. Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 21: e2. PMID 25133278 DOI: 10.1111/ene.12284  1
2014 Thériault MC, Lespérance P, Achim A, Tellier G, Diab S, Rouleau GA, Chouinard S, Richer F. ODD irritability is associated with obsessive-compulsive behavior and not ADHD in chronic tic disorders. Psychiatry Research. 220: 447-52. PMID 25108592 DOI: 10.1016/j.psychres.2014.07.039  1
2014 Ahmed I, Mittal K, Sheikh TI, Vasli N, Rafiq MA, Mikhailov A, Ohadi M, Mahmood H, Rouleau GA, Bhatti A, Ayub M, Srour M, John P, Vincent JB. 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. 133: 1419-29. PMID 25098561 DOI: 10.1007/s00439-014-1475-8  1
2014 Robinson MÈ, Rossignol E, Brais B, Rouleau G, Arbour JF, Bernard G. Vanishing white matter disease in French-Canadian patients from Quebec. Pediatric Neurology. 51: 225-32. PMID 25079571 DOI: 10.1016/j.pediatrneurol.2014.05.006  1
2014 McGrath LM, Yu D, Marshall C, Davis LK, Thiruvahindrapuram B, Li B, Cappi C, Gerber G, Wolf A, Schroeder FA, Osiecki L, O'Dushlaine C, Kirby A, Illmann C, Haddad S, ... ... Rouleau GA, et al. Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. Journal of the American Academy of Child and Adolescent Psychiatry. 53: 910-9. PMID 25062598 DOI: 10.1016/j.jaac.2014.04.022  1
2014 Paschou P, Yu D, Gerber G, Evans P, Tsetsos F, Davis LK, Karagiannidis I, Chaponis J, Gamazon E, Mueller-Vahl K, Stuhrmann M, Schloegelhofer M, Stamenkovic M, Hebebrand J, Noethen M, ... ... Rouleau GA, et al. Genetic association signal near NTN4 in Tourette syndrome. Annals of Neurology. 76: 310-5. PMID 25042818 DOI: 10.1002/ana.24215  1
2014 Martins S, Pearson CE, Coutinho P, Provost S, Amorim A, Dubé MP, Sequeiros J, Rouleau GA. Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes. Human Genetics. 133: 1311-8. PMID 25026993 DOI: 10.1007/s00439-014-1467-8  1
2014 Girard SL, Rouleau GA. Genome-wide association study in FTD: divide to conquer. The Lancet. Neurology. 13: 643-4. PMID 24943334 DOI: 10.1016/S1474-4422(14)70070-5  1
2014 Kahle KT, Merner ND, Friedel P, Silayeva L, Liang B, Khanna A, Shang Y, Lachance-Touchette P, Bourassa C, Levert A, Dion PA, Walcott B, Spiegelman D, Dionne-Laporte A, Hodgkinson A, ... ... Rouleau GA, et al. Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. Embo Reports. 15: 766-74. PMID 24928908 DOI: 10.15252/embr.201438840  1
2014 Jouan L, Rocheford D, Szuto A, Carney E, David K, Dion PA, Rouleau GA. An 18 alanine repeat in a severe form of oculopharyngeal muscular dystrophy. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 41: 508-11. PMID 24878479  1
2014 Schmouth JF, Dion PA, Rouleau GA. Genetics of essential tremor: from phenotype to genes, insights from both human and mouse studies. Progress in Neurobiology. 119: 1-19. PMID 24820404 DOI: 10.1016/j.pneurobio.2014.05.001  1
2014 Perrault I, Hamdan FF, Rio M, Capo-Chichi JM, Boddaert N, Décarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gérard X, Barcia G, Berquin P, ... ... Rouleau GA, et al. Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. American Journal of Human Genetics. 94: 891-7. PMID 24814191 DOI: 10.1016/j.ajhg.2014.04.012  1
2014 Michaud JL, Lachance M, Hamdan FF, Carmant L, Lortie A, Diadori P, Major P, Meijer IA, Lemyre E, Cossette P, Mefford HC, Rouleau GA, Rossignol E. The genetic landscape of infantile spasms. Human Molecular Genetics. 23: 4846-58. PMID 24781210 DOI: 10.1093/hmg/ddu199  1
2014 Leblond CS, Kaneb HM, Dion PA, Rouleau GA. Dissection of genetic factors associated with amyotrophic lateral sclerosis. Experimental Neurology. 262: 91-101. PMID 24780888 DOI: 10.1016/j.expneurol.2014.04.013  1
2014 Lemay P, Knowler SP, Bouasker S, Nédélec Y, Platt S, Freeman C, Child G, Barreiro LB, Rouleau GA, Rusbridge C, Kibar Z. Quantitative trait loci (QTL) study identifies novel genomic regions associated to Chiari-like malformation in Griffon Bruxellois dogs. Plos One. 9: e89816. PMID 24740420 DOI: 10.1371/journal.pone.0089816  1
2014 Akimoto C, Volk AE, van Blitterswijk M, Van den Broeck M, Leblond CS, Lumbroso S, Camu W, Neitzel B, Onodera O, van Rheenen W, Pinto S, Weber M, Smith B, Proven M, Talbot K, ... ... Rouleau GA, et al. 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. 51: 419-24. PMID 24706941 DOI: 10.1136/jmedgenet-2014-102360  1
2014 Noreau A, Dion PA, Rouleau GA. Molecular aspects of hereditary spastic paraplegia. Experimental Cell Research. 325: 18-26. PMID 24631291 DOI: 10.1016/j.yexcr.2014.02.021  1
2014 Mühleisen TW, Leber M, Schulze TG, Strohmaier J, Degenhardt F, Treutlein J, Mattheisen M, Forstner AJ, Schumacher J, Breuer R, Meier S, Herms S, Hoffmann P, Lacour A, Witt SH, ... ... Rouleau GA, et al. Genome-wide association study reveals two new risk loci for bipolar disorder. Nature Communications. 5: 3339. PMID 24618891 DOI: 10.1038/ncomms4339  1
2014 Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, Martin C, Meloche C, Gravel M, Drouin CA, Rouleau GA, Nguyen DK, Cossette P. Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. Jama Neurology. 71: 470-5. PMID 24566826 DOI: 10.1001/jamaneurol.2013.6337  1
2014 Esteves T, Durr A, Mundwiller E, Loureiro JL, Boutry M, Gonzalez MA, Gauthier J, El-Hachimi KH, Depienne C, Muriel MP, Acosta Lebrigio RF, Gaussen M, Noreau A, Speziani F, Dionne-Laporte A, ... ... Rouleau GA, et al. Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. American Journal of Human Genetics. 94: 268-77. PMID 24388663 DOI: 10.1016/j.ajhg.2013.12.005  1
2014 Huzayyin AA, Andreazza AC, Turecki G, Cruceanu C, Rouleau GA, Alda M, Young LT. 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). 17: 561-9. PMID 24345589 DOI: 10.1017/S1461145713001569  1
2014 Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, Smith A, Warman Chardon J, Yoon G, Rouleau GA, Suchowersky O, Siu V, Murphy L, Hegele RA, Marshall CR, Bulman DE, et al. Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Human Mutation. 35: 45-9. PMID 24108619 DOI: 10.1002/humu.22451  1
2014 Corradi A, Fadda M, Piton A, Patry L, Marte A, Rossi P, Cadieux-Dion M, Gauthier J, Lapointe L, Mottron L, Valtorta F, Rouleau GA, Fassio A, Benfenati F, Cossette P. SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth. Human Molecular Genetics. 23: 90-103. PMID 23956174 DOI: 10.1093/hmg/ddt401  1
2013 Blumen SC, Kesler A, Dabby R, Shalev S, Khayat M, Almog Y, Zoldan J, Benninger F, Drory VE, Gurevich M, Sadeh M, Brais B, Braverman I. Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster? The Israel Medical Association Journal : Imaj. 15: 748-52. PMID 24449978 DOI: 10.1007/978-1-4614-6567-6_60  1
2013 Therrien M, Rouleau GA, Dion PA, Parker JA. Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans. Plos One. 8: e83450. PMID 24349511 DOI: 10.1371/journal.pone.0083450  1
2013 Alda M, Shao L, Wang JF, Lopez de Lara C, Jaitovich-Groisman I, Lebel V, Sun X, Duffy A, Grof P, Rouleau GA, Turecki G, Young LT. Alterations in phosphorylated cAMP response element-binding protein (pCREB) signaling: an endophenotype of lithium-responsive bipolar disorder? Bipolar Disorders. 15: 824-31. PMID 24238631 DOI: 10.1111/bdi.12131  1
2013 Cruceanu C, Ambalavanan A, Spiegelman D, Gauthier J, Lafrenière RG, Dion PA, Alda M, Turecki G, Rouleau GA. 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. 56: 634-40. PMID 24237345 DOI: 10.1139/gen-2013-0081  1
2013 Davis LK, Yu D, Keenan CL, Gamazon ER, Konkashbaev AI, Derks EM, Neale BM, Yang J, Lee SH, Evans P, Barr CL, Bellodi L, Benarroch F, Berrio GB, Bienvenu OJ, ... ... Rouleau GA, et al. Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. Plos Genetics. 9: e1003864. PMID 24204291 DOI: 10.1371/journal.pgen.1003864  0.4
2013 Manchia M, Cullis J, Turecki G, Rouleau GA, Uher R, Alda M. The impact of phenotypic and genetic heterogeneity on results of genome wide association studies of complex diseases. Plos One. 8: e76295. PMID 24146854 DOI: 10.1371/journal.pone.0076295  1
2013 Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, ... ... Rouleau GA, et al. Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron. 80: 429-41. PMID 24139043 DOI: 10.1016/j.neuron.2013.08.013  1
2013 Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, Kurppa K, Moritoyo H, Belzil VV, Dion PA, Higasa K, Doi K, Ishiura H, Mitsui J, Date H, Ahsan B, Matsukawa T, ... ... Rouleau GA, et al. ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. American Journal of Human Genetics. 93: 900-5. PMID 24119685 DOI: 10.1016/j.ajhg.2013.09.008  1
2013 Abu-Baker A, Laganiere J, Gaudet R, Rochefort D, Brais B, Neri C, Dion PA, Rouleau GA. Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/β-catenin pathway. Cell Death & Disease. 4: e821. PMID 24091664 DOI: 10.1038/cddis.2013.342  1
2013 Casals F, Hodgkinson A, Hussin J, Idaghdour Y, Bruat V, de Maillard T, Grenier JC, Grenier JC, Gbeha E, Hamdan FF, Girard S, Spinella JF, Larivière M, Saillour V, Healy J, ... ... Rouleau GA, et al. Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans. Plos Genetics. 9: e1003815. PMID 24086152 DOI: 10.1371/journal.pgen.1003815  1
2013 Srour M, Chitayat D, Caron V, Chassaing N, Bitoun P, Patry L, Cordier MP, Capo-Chichi JM, Francannet C, Calvas P, Ragge N, Dobrzeniecka S, Hamdan FF, Rouleau GA, Tremblay A, et al. Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. American Journal of Human Genetics. 93: 765-72. PMID 24075189 DOI: 10.1016/j.ajhg.2013.08.014  1
2013 Noreau A, Bourassa CV, Szuto A, Levert A, Dobrzeniecka S, Gauthier J, Forlani S, Durr A, Anheim M, Stevanin G, Brice A, Bouchard JP, Dion PA, Dupré N, Rouleau GA. SYNE1 mutations in autosomal recessive cerebellar ataxia. Jama Neurology. 70: 1296-31. PMID 23959263 DOI: 10.1001/jamaneurol.2013.3268  1
2013 Manchia M, Adli M, Akula N, Ardau R, Aubry JM, Backlund L, Banzato CE, Baune BT, Bellivier F, Bengesser S, Biernacka JM, Brichant-Petitjean C, Bui E, Calkin CV, Cheng AT, ... ... Rouleau GA, et al. Assessment of Response to Lithium Maintenance Treatment in Bipolar Disorder: A Consortium on Lithium Genetics (ConLiGen) Report. Plos One. 8: e65636. PMID 23840348 DOI: 10.1371/journal.pone.0065636  1
2013 Squassina A, Manchia M, Chillotti C, Deiana V, Congiu D, Paribello F, Roncada P, Soggiu A, Piras C, Urbani A, Robertson GS, Keddy P, Turecki G, Rouleau GA, Alda M, et al. 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). 16: 2209-18. PMID 23768751 DOI: 10.1017/S1461145713000655  1
2013 Boukhris A, Schule R, Loureiro JL, Lourenço CM, Mundwiller E, Gonzalez MA, Charles P, Gauthier J, Rekik I, Acosta Lebrigio RF, Gaussen M, Speziani F, Ferbert A, Feki I, Caballero-Oteyza A, ... ... Rouleau GA, et al. Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. American Journal of Human Genetics. 93: 118-23. PMID 23746551 DOI: 10.1016/j.ajhg.2013.05.006  1
2013 Pickles S, Destroismaisons L, Peyrard SL, Cadot S, Rouleau GA, Brown RH, Julien JP, Arbour N, Vande Velde C. Mitochondrial damage revealed by immunoselection for ALS-linked misfolded SOD1. Human Molecular Genetics. 22: 3947-59. PMID 23736301 DOI: 10.1093/hmg/ddt249  1
2013 Salin-Cantegrel A, Shekarabi M, Rasheed S, Charron FM, Laganière J, Gaudet R, Dion PA, Lapointe JY, Rouleau GA. Potassium-chloride cotransporter 3 interacts with Vav2 to synchronize the cell volume decrease response with cell protrusion dynamics. Plos One. 8: e65294. PMID 23724134 DOI: 10.1371/journal.pone.0065294  1
2013 Capo-Chichi JM, Tcherkezian J, Hamdan FF, Décarie JC, Dobrzeniecka S, Patry L, Nadon MA, Mucha BE, Major P, Shevell M, Bencheikh BO, Joober R, Samuels ME, Rouleau GA, Roux PP, et al. Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. Journal of Medical Genetics. 50: 740-4. PMID 23687350 DOI: 10.1136/jmedgenet-2013-101680  1
2013 Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, ... ... Rouleau G, et al. Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Human Mutation. 34: 1160-71. PMID 23649844 DOI: 10.1002/humu.22348  1
2013 Lattante S, Rouleau GA, Kabashi E. TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update. Human Mutation. 34: 812-26. PMID 23559573 DOI: 10.1002/humu.22319  1
2013 Khoury S, Chouchou F, Amzica F, Giguère JF, Denis R, Rouleau GA, Lavigne GJ. Rapid EEG activity during sleep dominates in mild traumatic brain injury patients with acute pain. Journal of Neurotrauma. 30: 633-41. PMID 23510169 DOI: 10.1089/neu.2012.2519  1
2013 Shekarabi M, Lafrenière RG, Gaudet R, Laganière J, Marcinkiewicz MM, Dion PA, Rouleau GA. Comparative analysis of the expression profile of Wnk1 and Wnk1/Hsn2 splice variants in developing and adult mouse tissues. Plos One. 8: e57807. PMID 23451271 DOI: 10.1371/journal.pone.0057807  1
2013 Kabashi E, El Oussini H, Bercier V, Gros-Louis F, Valdmanis PN, McDearmid J, Mejier IA, Dion PA, Dupre N, Hollinger D, Sinniger J, Dirrig-Grosch S, Camu W, Meininger V, Loeffler JP, ... ... Rouleau GA, et al. Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis. Human Molecular Genetics. 22: 2350-60. PMID 23446633 DOI: 10.1093/hmg/ddt080  1
2013 Jouan L, Girard SL, Dobrzeniecka S, Ambalavanan A, Krebs MO, Joober R, Gauthier J, Dion PA, Rouleau GA. 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. 9: 9. PMID 23425335 DOI: 10.1186/1744-9081-9-9  1
2013 Lesage S, Le Ber I, Condroyer C, Broussolle E, Gabelle A, Thobois S, Pasquier F, Mondon K, Dion PA, Rochefort D, Rouleau GA, Dürr A, Brice A. C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain : a Journal of Neurology. 136: 385-91. PMID 23413259 DOI: 10.1093/brain/aws357  1
2013 Bercier V, Brustein E, Liao M, Dion PA, Lafrenière RG, Rouleau GA, Drapeau P. WNK1/HSN2 mutation in human peripheral neuropathy deregulates KCC2 expression and posterior lateral line development in zebrafish (Danio rerio). Plos Genetics. 9: e1003124. PMID 23300475 DOI: 10.1371/journal.pgen.1003124  1
2013 Daoud H, Noreau A, Rochefort D, Paquin-Lanthier G, Gauthier MT, Provencher P, Pourcher E, Dupré N, Chouinard S, Jodoin N, Soland V, Fon EA, Dion PA, Rouleau GA. Investigation of C9orf72 repeat expansions in Parkinson's disease. Neurobiology of Aging. 34: 1710.e7-9. PMID 23273600 DOI: 10.1016/j.neurobiolaging.2012.11.025  1
2013 Piton A, Jouan L, Rochefort D, Dobrzeniecka S, Lachapelle K, Dion PA, Gauthier J, Rouleau GA. 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. 21: 749-56. PMID 23169495 DOI: 10.1038/ejhg.2012.243  1
2013 Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, ... ... Rouleau GA, et al. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Human Mutation. 34: 385-94. PMID 23161826 DOI: 10.1002/humu.22248  1
2013 Cruceanu C, Freemantle E, Alda M, Rouleau GA, Turecki G. Epigenetic regulation of synapsin genes in mood disorders. Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. 38: 239-41. PMID 23147482 DOI: 10.1038/npp.2012.186  1
2013 Daoud H, Dobrzeniecka S, Camu W, Meininger V, Dupré N, Dion PA, Rouleau GA. Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients. Neurobiology of Aging. 34: 1311.e1-2. PMID 23062600 DOI: 10.1016/j.neurobiolaging.2012.09.001  1
2013 Capo-Chichi JM, Bharti SK, Sommers JA, Yammine T, Chouery E, Patry L, Rouleau GA, Samuels ME, Hamdan FF, Michaud JL, Brosh RM, Mégarbane A, Kibar Z. Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome. Human Mutation. 34: 103-7. PMID 23033317 DOI: 10.1002/humu.22226  1
2013 Cadieux-Dion M, Andermann E, Lachance-Touchette P, Ansorge O, Meloche C, Barnabé A, Kuzniecky RI, Andermann F, Faught E, Leonberg S, Damiano JA, Berkovic SF, Rouleau GA, Cossette P. Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. Clinical Genetics. 83: 571-5. PMID 22978711 DOI: 10.1111/cge.12020  1
2013 Yauk CL, Lucas Argueso J, Auerbach SS, Awadalla P, Davis SR, Demarini DM, Douglas GR, Dubrova YE, Elespuru RK, Glover TW, Hales BF, Hurles ME, Klein CB, Lupski JR, Manchester DK, ... ... Rouleau GA, et al. Harnessing genomics to identify environmental determinants of heritable disease. Mutation Research. 752: 6-9. PMID 22935230 DOI: 10.1016/j.mrrev.2012.08.002  1
2013 Sauerbeck L, Hornung R, Woo D, Moomaw CJ, Anderson C, Connolly ES, Rouleau GA, Brown RD, Broderick JP. Mortality and causes of death in the Familial Intracranial Aneurysm study. International Journal of Stroke : Official Journal of the International Stroke Society. 8: 696-700. PMID 22928607 DOI: 10.1111/j.1747-4949.2012.00857.x  1
2013 Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, ... ... Rouleau GA, et al. Genome-wide association study of Tourette's syndrome. Molecular Psychiatry. 18: 721-8. PMID 22889924 DOI: 10.1038/mp.2012.69  0.4
2013 Belzil VV, Daoud H, Camu W, Strong MJ, Dion PA, Rouleau GA. Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia. European Journal of Human Genetics : Ejhg. 21: 237-9. PMID 22739338 DOI: 10.1038/ejhg.2012.135  1
2013 Hamdan FF, Daoud H, Patry L, Dionne-Laporte A, Spiegelman D, Dobrzeniecka S, Rouleau GA, Michaud JL. Parent-child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability. Clinical Genetics. 83: 198-200. PMID 22670824 DOI: 10.1111/j.1399-0004.2012.01890.x  1
2013 Cruceanu C, Alda M, Nagy C, Freemantle E, Rouleau GA, Turecki G. 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). 16: 289-99. PMID 22571925 DOI: 10.1017/S1461145712000363  1
2012 Jouan L, Gauthier J, Dion PA, Rouleau GA. Rare variants in complex traits: novel identification strategies and the role of de novo mutations. Human Heredity. 74: 215-25. PMID 23594499 DOI: 10.1159/000346478  1
2012 Belzil VV, Rouleau GA. Endoplasmic reticulum lipid rafts and upper motor neuron degeneration. Annals of Neurology. 72: 479-80. PMID 23109142 DOI: 10.1002/ana.23678  1
2012 Kaneb HM, Dion PA, Rouleau GA. The FUS about arginine methylation in ALS and FTLD. The Embo Journal. 31: 4249-51. PMID 23085990 DOI: 10.1038/emboj.2012.291  1
2012 Lafrenière RG, Rouleau GA. Identification of novel genes involved in migraine. Headache. 52: 107-10. PMID 23030542 DOI: 10.1111/j.1526-4610.2012.02237.x  1
2012 Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, ... ... Rouleau GA, et al. Mutations in TMEM231 cause Joubert syndrome in French Canadians. Journal of Medical Genetics. 49: 636-41. PMID 23012439 DOI: 10.1136/jmedgenet-2012-101132  1
2012 Gauthier J, Rouleau GA. De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention. Genome Medicine. 4: 71. PMID 23009675 DOI: 10.1186/gm372  1
2012 Daoud H, Suhail H, Sabbagh M, Belzil V, Szuto A, Dionne-Laporte A, Khoris J, Camu W, Salachas F, Meininger V, Mathieu J, Strong M, Dion PA, Rouleau GA. C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia. Archives of Neurology. 69: 1159-63. PMID 22964911 DOI: 10.1001/archneurol.2012.377  1
2012 Bourassa CV, Meijer IA, Merner ND, Grewal KK, Stefanelli MG, Hodgkinson K, Ives EJ, Pryse-Phillips W, Jog M, Boycott K, Grimes DA, Goobie S, Leckey R, Dion PA, Rouleau GA. VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. American Journal of Human Genetics. 91: 548-52. PMID 22958904 DOI: 10.1016/j.ajhg.2012.07.018  1
2012 Merner ND, Girard SL, Catoire H, Bourassa CV, Belzil VV, Rivière JB, Hince P, Levert A, Dionne-Laporte A, Spiegelman D, Noreau A, Diab S, Szuto A, Fournier H, Raelson J, ... ... Rouleau GA, et al. Exome sequencing identifies FUS mutations as a cause of essential tremor. American Journal of Human Genetics. 91: 313-9. PMID 22863194 DOI: 10.1016/j.ajhg.2012.07.002  1
2012 Belzil VV, Rouleau GA. Familial ALS: less common than we think? Journal of Neurology, Neurosurgery, and Psychiatry. 83: 1133. PMID 22791902 DOI: 10.1136/jnnp-2012-303127  1
2012 Williams KL, Warraich ST, Yang S, Solski JA, Fernando R, Rouleau GA, Nicholson GA, Blair IP. UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis. Neurobiology of Aging. 33: 2527.e3-10. PMID 22717235 DOI: 10.1016/j.neurobiolaging.2012.05.008  1
2012 Daoud H, Suhail H, Szuto A, Camu W, Salachas F, Meininger V, Bouchard JP, Dupré N, Dion PA, Rouleau GA. UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis. Neurobiology of Aging. 33: 2230.e1-2230.e5. PMID 22560112 DOI: 10.1016/j.neurobiolaging.2012.03.015  1
2012 Corcia P, Valdmanis P, Millecamps S, Lionnet C, Blasco H, Mouzat K, Daoud H, Belzil V, Morales R, Pageot N, Danel-Brunaud V, Vandenberghe N, Pradat PF, Couratier P, Salachas F, ... ... Rouleau GA, et al. Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations. Neurology. 78: 1519-26. PMID 22539580 DOI: 10.1212/WNL.0b013e3182553c88  1
2012 Lourenço CM, Dupré N, Rivière JB, Rouleau GA, Marques VD, Genari AB, Santos AC, Barreira AA, Marques W. Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome. Journal of the Peripheral Nervous System : Jpns. 17: 123-7. PMID 22462673 DOI: 10.1111/j.1529-8027.2012.00374.x  1
2012 Girard SL, Dion PA, Rouleau GA. Schizophrenia genetics: putting all the pieces together. Current Neurology and Neuroscience Reports. 12: 261-6. PMID 22456906 DOI: 10.1007/s11910-012-0266-7  1
2012 Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Désilets V, ... ... Rouleau GA, et al. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. American Journal of Human Genetics. 90: 693-700. PMID 22425360 DOI: 10.1016/j.ajhg.2012.02.011  1
2012 Shekarabi M, Moldrich RX, Rasheed S, Salin-Cantegrel A, Laganière J, Rochefort D, Hince P, Huot K, Gaudet R, Kurniawan N, Sotocinal SG, Ritchie J, Dion PA, Mogil JS, Richards LJ, ... Rouleau GA, et al. 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. 32: 3865-76. PMID 22423107 DOI: 10.1523/JNEUROSCI.3679-11.2012  1
2012 Noreau A, Dion PA, Szuto A, Levert A, Thibodeau P, Brais B, Dupré N, Rioux MF, Rouleau GA. CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 39: 91-4. PMID 22384504  1
2012 Cruceanu C, Alda M, Grof P, Rouleau GA, Turecki G. Synapsin II is involved in the molecular pathway of lithium treatment in bipolar disorder. Plos One. 7: e32680. PMID 22384280 DOI: 10.1371/journal.pone.0032680  1
2012 Belzil VV, André-Guimont C, Atallah MR, Daoud H, Dupré N, Bouchard JP, Camu W, Dion PA, Rouleau GA. Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis. Neurobiology of Aging. 33: 1845.e7-9. PMID 22361451 DOI: 10.1016/j.neurobiolaging.2012.01.011  1
2012 Andres-Enguix I, Shang L, Stansfeld PJ, Morahan JM, Sansom MS, Lafrenière RG, Roy B, Griffiths LR, Rouleau GA, Ebers GC, Cader ZM, Tucker SJ. Functional analysis of missense variants in the TRESK (KCNK18) K channel. Scientific Reports. 2: 237. PMID 22355750 DOI: 10.1038/srep00237  1
2012 Hand CK, Bernard G, Dubé MP, Shevell MI, Rouleau GA. A novel PLP1 mutation further expands the clinical heterogeneity at the locus. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 39: 220-4. PMID 22343157  1
2012 Belzil VV, Rouleau GA. SOD1 mutations: more to learn. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 39: 132-3. PMID 22343144  1
2012 Stochmanski SJ, Therrien M, Laganière J, Rochefort D, Laurent S, Karemera L, Gaudet R, Vyboh K, Van Meyel DJ, Di Cristo G, Dion PA, Gaspar C, Rouleau GA. Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models. Human Molecular Genetics. 21: 2211-8. PMID 22337953 DOI: 10.1093/hmg/dds036  1
2012 Hamdan FF, Saitsu H, Nishiyama K, Gauthier J, Dobrzeniecka S, Spiegelman D, Lacaille JC, Décarie JC, Matsumoto N, Rouleau GA, Michaud JL. Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy. European Journal of Human Genetics : Ejhg. 20: 796-800. PMID 22258530 DOI: 10.1038/ejhg.2011.271  1
2012 Belzil VV, Langlais JS, Daoud H, Dion PA, Brais B, Rouleau GA. Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis. Archives of Neurology. 69: 653-6. PMID 22248478 DOI: 10.1001/archneurol.2011.2499  1
2012 Daoud H, Zhou S, Noreau A, Sabbagh M, Belzil V, Dionne-Laporte A, Tranchant C, Dion P, Rouleau GA. Exome sequencing reveals SPG11 mutations causing juvenile ALS. Neurobiology of Aging. 33: 839.e5-9. PMID 22154821 DOI: 10.1016/j.neurobiolaging.2011.11.012  1
2012 Shekarabi M, Dion PA, Rouleau GA. 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. 259: 565-6. PMID 21847616 DOI: 10.1007/s00415-011-6206-7  1
2012 Addington AM, Gauthier J, Piton A, Hamdan FF, Raymond A, Gogtay N, Miller R, Tossell J, Bakalar J, Inoff-Germain G, Gochman P, Long R, Rapoport JL, Rouleau GA. A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders (Molecular Psychiatry (2011) 16, (238-239) DOI:10.1038/mp.2010.59) Molecular Psychiatry. 17: 468. DOI: 10.1038/mp.2010.76  1
2012 Noreau A, Rouleau GA, Dupré N. Clinical and genetic aspects of recessive ataxias Ataxia: Causes, Symptoms and Treatment. 109-122.  1
2011 Tarabeux J, Kebir O, Gauthier J, Hamdan FF, Xiong L, Piton A, Spiegelman D, Henrion É, Millet B, Fathalli F, Joober R, Rapoport JL, DeLisi LE, Fombonne É, ... ... Rouleau GA, et al. Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. Translational Psychiatry. 1: e55. PMID 22833210 DOI: 10.1038/tp.2011.52  1
2011 Patino GA, Brackenbury WJ, Bao Y, Lopez-Santiago LF, O'Malley HA, Chen C, Calhoun JD, Lafrenière RG, Cossette P, Rouleau GA, Isom LL. 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. 31: 14577-91. PMID 21994374 DOI: 10.1523/JNEUROSCI.0361-11.2011  1
2011 Daoud H, Rouleau GA. A role for ubiquilin 2 mutations in neurodegeneration. Nature Reviews. Neurology. 7: 599-600. PMID 21989241 DOI: 10.1038/nrneurol.2011.163  1
2011 Vande Velde C, Dion PA, Rouleau GA. Amyotrophic lateral sclerosis: new genes, new models, and new mechanisms. F1000 Biology Reports. 3: 18. PMID 21941597 DOI: 10.3410/B3-18  1
2011 Cilia La Corte AL, Carter AM, Rice GI, Duan QL, Rouleau GA, Adam A, Grant PJ, Hooper NM. A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema. Human Mutation. 32: 1326-31. PMID 21898657 DOI: 10.1002/humu.21579  1
2011 Noreau A, Rivière JB, Diab S, Dion PA, Panisset M, Soland V, Jodoin N, Langlois M, Chouinard S, Dupré N, Rouleau GA. Glucocerebrosidase mutations in a French-Canadian Parkinson's disease cohort. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 38: 772-3. PMID 21856586  1
2011 Lafrenière RG, Rouleau GA. Migraine: Role of the TRESK two-pore potassium channel. The International Journal of Biochemistry & Cell Biology. 43: 1533-6. PMID 21855646 DOI: 10.1016/j.biocel.2011.08.002  1
2011 Kabashi E, Bercier V, Lissouba A, Liao M, Brustein E, Rouleau GA, Drapeau P. FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis. Plos Genetics. 7: e1002214. PMID 21829392 DOI: 10.1371/journal.pgen.1002214  1
2011 Rivière JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, ... ... Rouleau GA, et al. KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. American Journal of Human Genetics. 89: 219-30. PMID 21820098 DOI: 10.1016/j.ajhg.2011.06.013  1
2011 Fortier E, Noreau A, Lepore F, Boivin M, Pérusse D, Rouleau GA, Beauregard M. Early influence of the rs4675690 on the neural substrates of sadness. Journal of Affective Disorders. 135: 336-40. PMID 21807415 DOI: 10.1016/j.jad.2011.06.039  1
2011 Winkelmann J, Czamara D, Schormair B, Knauf F, Schulte EC, Trenkwalder C, Dauvilliers Y, Polo O, Högl B, Berger K, Fuhs A, Gross N, Stiasny-Kolster K, Oertel W, Bachmann CG, ... ... Rouleau GA, et al. Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1. Plos Genetics. 7: e1002171. PMID 21779176 DOI: 10.1371/journal.pgen.1002171  1
2011 Swarup V, Phaneuf D, Bareil C, Robertson J, Rouleau GA, Kriz J, Julien JP. Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments. Brain : a Journal of Neurology. 134: 2610-26. PMID 21752789 DOI: 10.1093/brain/awr159  1
2011 Girard SL, Gauthier J, Noreau A, Xiong L, Zhou S, Jouan L, Dionne-Laporte A, Spiegelman D, Henrion E, Diallo O, Thibodeau P, Bachand I, Bao JY, Tong AH, Lin CH, ... ... Rouleau GA, et al. Increased exonic de novo mutation rate in individuals with schizophrenia. Nature Genetics. 43: 860-3. PMID 21743468 DOI: 10.1038/ng.886  1
2011 Gillis RF, Rouleau GA. The ongoing dissection of the genetic architecture of autistic spectrum disorder. Molecular Autism. 2: 12. PMID 21740537 DOI: 10.1186/2040-2392-2-12  1
2011 Julie G, Hamdan FF, Rouleau GA. A strategy to identify de novo mutations in common disorders such as autism and schizophrenia. Journal of Visualized Experiments : Jove. PMID 21712793 DOI: 10.3791/2534  1
2011 Catoire H, Dion PA, Xiong L, Amari M, Gaudet R, Girard SL, Noreau A, Gaspar C, Turecki G, Montplaisir JY, Parker JA, Rouleau GA. Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis. Annals of Neurology. 70: 170-5. PMID 21710629 DOI: 10.1002/ana.22435  1
2011 Daoud H, Belzil V, Martins S, Sabbagh M, Provencher P, Lacomblez L, Meininger V, Camu W, Dupré N, Dion PA, Rouleau GA. Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis. Archives of Neurology. 68: 739-42. PMID 21670397 DOI: 10.1001/archneurol.2011.111  1
2011 Conrad DF, Keebler JE, DePristo MA, Lindsay SJ, Zhang Y, Casals F, Idaghdour Y, Hartl CL, Torroja C, Garimella KV, Zilversmit M, Cartwright R, Rouleau GA, Daly M, Stone EA, et al. Variation in genome-wide mutation rates within and between human families. Nature Genetics. 43: 712-4. PMID 21666693 DOI: 10.1038/ng.862  1
2011 Salin-Cantegrel A, Rivière JB, Shekarabi M, Rasheed S, Dacal S, Laganière J, Gaudet R, Rochefort D, Lesca G, Gaspar C, Dion PA, Lapointe JY, Rouleau GA. 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. 286: 28456-65. PMID 21628467 DOI: 10.1074/jbc.M111.226894  1
2011 Rouleau GA. Addendum to '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'. Clinical Genetics. 79: 601-3. PMID 21542836 DOI: 10.1111/j.1399-0004.2011.01665.x  1
2011 Samuels ME, Rouleau GA. The case for locus-specific databases. Nature Reviews. Genetics. 12: 378-9. PMID 21540879 DOI: 10.1038/nrg3011  1
2011 Fassio A, Patry L, Congia S, Onofri F, Piton A, Gauthier J, Pozzi D, Messa M, Defranchi E, Fadda M, Corradi A, Baldelli P, Lapointe L, St-Onge J, Meloche C, ... ... Rouleau GA, et al. SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. Human Molecular Genetics. 20: 2297-307. PMID 21441247 DOI: 10.1093/hmg/ddr122  1
2011 Tucker T, Montpetit A, Chai D, Chan S, Chénier S, Coe BP, Delaney A, Eydoux P, Lam WL, Langlois S, Lemyre E, Marra M, Qian H, Rouleau GA, Vincent D, et al. Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation. Bmc Medical Genomics. 4: 25. PMID 21439053 DOI: 10.1186/1755-8794-4-25  1
2011 Gauthier J, Siddiqui TJ, Huashan P, Yokomaku D, Hamdan FF, Champagne N, Lapointe M, Spiegelman D, Noreau A, Lafrenière RG, Fathalli F, Joober R, Krebs MO, DeLisi LE, Mottron L, ... ... Rouleau GA, et al. Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Human Genetics. 130: 563-73. PMID 21424692 DOI: 10.1007/s00439-011-0975-z  1
2011 Belzil VV, Daoud H, Dion PA, Rouleau GA. No effect on SOD1 splicing by TARDP or FUS mutations. Archives of Neurology. 68: 395-6. PMID 21403029 DOI: 10.1001/archneurol.2011.1  1
2011 Myers RA, Casals F, Gauthier J, Hamdan FF, Keebler J, Boyko AR, Bustamante CD, Piton AM, Spiegelman D, Henrion E, Zilversmit M, Hussin J, Quinlan J, Yang Y, Lafrenière RG, ... ... Rouleau GA, et al. A population genetic approach to mapping neurological disorder genes using deep resequencing. Plos Genetics. 7: e1001318. PMID 21383861 DOI: 10.1371/journal.pgen.1001318  1
2011 Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A, Tomitori H, Daoud H, Massicotte C, Henrion E, Diallo O, ... ... Rouleau GA, et al. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. American Journal of Human Genetics. 88: 306-16. PMID 21376300 DOI: 10.1016/j.ajhg.2011.02.001  1
2011 Hamdan FF, Gauthier J, Dobrzeniecka S, Lortie A, Mottron L, Vanasse M, D'Anjou G, Lacaille JC, Rouleau GA, Michaud JL. Intellectual disability without epilepsy associated with STXBP1 disruption. European Journal of Human Genetics : Ejhg. 19: 607-9. PMID 21364700 DOI: 10.1038/ejhg.2010.183  1
2011 Camdessanché JP, Belzil VV, Jousserand G, Rouleau GA, Créac'h C, Convers P, Antoine JC. Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation. Orphanet Journal of Rare Diseases. 6: 4. PMID 21294910 DOI: 10.1186/1750-1172-6-4  1
2011 Girard SL, Xiong L, Dion PA, Rouleau GA. Where are the missing pieces of the schizophrenia genetics puzzle? Current Opinion in Genetics & Development. 21: 310-6. PMID 21277191 DOI: 10.1016/j.gde.2011.01.001  1
2011 Bourassa CV, Rivière JB, Dion PA, Bernard G, Diab S, Panisset M, Chouinard S, Dupré N, Fournier H, Raelson J, Belouchi M, Rouleau GA. LINGO1 variants in the French-Canadian population. Plos One. 6: e16254. PMID 21264305 DOI: 10.1371/journal.pone.0016254  1
2011 Belzil VV, Daoud H, St-Onge J, Desjarlais A, Bouchard JP, Dupre N, Lacomblez L, Salachas F, Pradat PF, Meininger V, Camu W, Dion PA, Rouleau GA. 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. 12: 113-7. PMID 21261515 DOI: 10.3109/17482968.2010.536840  1
2011 McDonald KK, Aulas A, Destroismaisons L, Pickles S, Beleac E, Camu W, Rouleau GA, Vande Velde C. TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1. Human Molecular Genetics. 20: 1400-10. PMID 21257637 DOI: 10.1093/hmg/ddr021  1
2011 Hamdan FF, Daoud H, Piton A, Gauthier J, Dobrzeniecka S, Krebs MO, Joober R, Lacaille JC, Nadeau A, Milunsky JM, Wang Z, Carmant L, Mottron L, Beauchamp MH, Rouleau GA, et al. De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. Biological Psychiatry. 69: 898-901. PMID 21237447 DOI: 10.1016/j.biopsych.2010.11.015  1
2011 Daoud H, Valdmanis PN, Gros-Louis F, Belzil V, Spiegelman D, Henrion E, Diallo O, Desjarlais A, Gauthier J, Camu W, Dion PA, Rouleau GA. Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis. Archives of Neurology. 68: 587-93. PMID 21220648 DOI: 10.1001/archneurol.2010.351  1
2011 Crane J, Fagerness J, Osiecki L, Gunnell B, Stewart SE, Pauls DL, Scharf JM. Family-based genetic association study of DLGAP3 in Tourette Syndrome. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 156: 108-14. PMID 21184590 DOI: 10.1002/ajmg.b.31134  1
2011 Kornum BR, Kawashima M, Faraco J, Lin L, Rico TJ, Hesselson S, Axtell RC, Kuipers H, Weiner K, Hamacher A, Kassack MU, Han F, Knudsen S, Li J, Dong X, ... ... Rouleau GA, et al. Common variants in P2RY11 are associated with narcolepsy. Nature Genetics. 43: 66-71. PMID 21170044 DOI: 10.1038/ng.734  1
2011 Belzil VV, St-Onge J, Daoud H, Desjarlais A, Bouchard JP, Dupré N, Camu W, Dion PA, Rouleau GA. Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis. Journal of Human Genetics. 56: 247-9. PMID 21160488 DOI: 10.1038/jhg.2010.162  1
2011 Shekarabi M, Salin-Cantegrel A, Laganière J, Gaudet R, Dion P, Rouleau GA. Cellular expression of the K+-Cl- cotransporter KCC3 in the central nervous system of mouse. Brain Research. 1374: 15-26. PMID 21147077 DOI: 10.1016/j.brainres.2010.12.010  1
2011 Merner ND, Dion PA, Rouleau GA. 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. Clinical Genetics. 79: 23-34. PMID 21143467 DOI: 10.1111/j.1399-0004.2010.01591.x  1
2011 Valdmanis PN, Dupré N, Lachance M, Stochmanski SJ, Belzil VV, Dion PA, Thiffault I, Brais B, Weston L, Saint-Amant L, Samuels ME, Rouleau GA. A mutation in the RNF170 gene causes autosomal dominant sensory ataxia. Brain : a Journal of Neurology. 134: 602-7. PMID 21115467 DOI: 10.1093/brain/awq329  1
2011 Belzil VV, Daoud H, Desjarlais A, Bouchard JP, Dupré N, Camu W, Dion PA, Rouleau GA. Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis. Neurobiology of Aging. 32: 555.e13-4. PMID 21074290 DOI: 10.1016/j.neurobiolaging.2010.10.001  1
2011 Xiong L, Rouleau GA. Restless legs syndrome mothers and attention-deficit/hyperactivity disorder children: what happened between them? Sleep Medicine. 12: 5-6. PMID 20851048 DOI: 10.1016/j.sleep.2010.07.002  1
2011 Piton A, Gauthier J, Hamdan FF, Lafrenière RG, Yang Y, Henrion E, Laurent S, Noreau A, Thibodeau P, Karemera L, Spiegelman D, Kuku F, Duguay J, Destroismaisons L, Jolivet P, ... ... Rouleau GA, et al. Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Molecular Psychiatry. 16: 867-80. PMID 20479760 DOI: 10.1038/mp.2010.54  1
2011 Addington AM, Gauthier J, Piton A, Hamdan FF, Raymond A, Gogtay N, Miller R, Tossell J, Bakalar J, Inoff-Germain G, Germain G, Gochman P, Long R, Rapoport JL, Rouleau GA. A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders. Molecular Psychiatry. 16: 238-9. PMID 20479756 DOI: 10.1038/mp.2010.59  1
2011 Girard SL, Rouleau GA. How de novo mutation studies will change our view of the genetics of neurological and psychiatric disorders Future Neurology. 6: 719-721. DOI: 10.2217/fnl.11.52  1
2010 McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, ... ... Rouleau GA, et al. Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. American Journal of Human Genetics. 87: 905-14. PMID 21129721 DOI: 10.1016/j.ajhg.2010.11.004  1
2010 Hamdan FF, Daoud H, Rochefort D, Piton A, Gauthier J, Langlois M, Foomani G, Dobrzeniecka S, Krebs MO, Joober R, Lafrenière RG, Lacaille JC, Mottron L, Drapeau P, Beauchamp MH, ... ... Rouleau GA, et al. De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. American Journal of Human Genetics. 87: 671-8. PMID 20950788 DOI: 10.1016/j.ajhg.2010.09.017  1
2010 Lafrenière RG, Cader MZ, Poulin JF, Andres-Enguix I, Simoneau M, Gupta N, Boisvert K, Lafrenière F, McLaughlan S, Dubé MP, Marcinkiewicz MM, Ramagopalan S, Ansorge O, Brais B, Sequeiros J, ... ... Rouleau GA, et al. A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura. Nature Medicine. 16: 1157-60. PMID 20871611 DOI: 10.1038/nm.2216  1
2010 Fortier E, Noreau A, Lepore F, Boivin M, Pérusse D, Rouleau GA, Beauregard M. Early impact of 5-HTTLPR polymorphism on the neural correlates of sadness. Neuroscience Letters. 485: 261-5. PMID 20851164 DOI: 10.1016/j.neulet.2010.09.026  1
2010 Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, Orlic-Milacic M, Lionel AC, Sato D, Pinto D, Drmic I, Noakes C, Senman L, Zhang X, Mo R, ... ... Rouleau GA, et al. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Science Translational Medicine. 2: 49ra68. PMID 20844286 DOI: 10.1126/scitranslmed.3001267  1
2010 Daoud H, Belzil V, Dion PA, Rouleau GA. Chromosome 9p21 in amyotrophic lateral sclerosis: the plot thickens. The Lancet. Neurology. 9: 945-7. PMID 20801719 DOI: 10.1016/S1474-4422(10)70211-8  1
2010 Awadalla P, Gauthier J, Myers RA, Casals F, Hamdan FF, Griffing AR, Côté M, Henrion E, Spiegelman D, Tarabeux J, Piton A, Yang Y, Boyko A, Bustamante C, Xiong L, ... ... Rouleau GA, et al. Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. American Journal of Human Genetics. 87: 316-24. PMID 20797689 DOI: 10.1016/j.ajhg.2010.07.019  1
2010 Tarabeux J, Champagne N, Brustein E, Hamdan FF, Gauthier J, Lapointe M, Maios C, Piton A, Spiegelman D, Henrion E, Millet B, Rapoport JL, Delisi LE, Joober R, ... ... Rouleau GA, et al. De novo truncating mutation in Kinesin 17 associated with schizophrenia. Biological Psychiatry. 68: 649-56. PMID 20646681 DOI: 10.1016/j.biopsych.2010.04.018  1
2010 Laforce R, Buteau JP, Bouchard JP, Rouleau GA, Bouchard RW, Dupré N. Cognitive impairment in ARCA-1, a newly discovered pure cerebellar ataxia syndrome. Cerebellum (London, England). 9: 443-53. PMID 20559786 DOI: 10.1007/s12311-010-0184-7  1
2010 Kudo LC, Parfenova L, Vi N, Lau K, Pomakian J, Valdmanis P, Rouleau GA, Vinters HV, Wiedau-Pazos M, Karsten SL. Integrative gene-tissue microarray-based approach for identification of human disease biomarkers: application to amyotrophic lateral sclerosis. Human Molecular Genetics. 19: 3233-53. PMID 20530642 DOI: 10.1093/hmg/ddq232  1
2010 Macintyre G, Alford T, Xiong L, Rouleau GA, Tibbo PG, Cox DW. Association of NPAS3 exonic variation with schizophrenia. Schizophrenia Research. 120: 143-9. PMID 20466522 DOI: 10.1016/j.schres.2010.04.002  0.48
2010 Xiong L, Montplaisir J, Desautels A, Barhdadi A, Turecki G, Levchenko A, Thibodeau P, Dubé MP, Gaspar C, Rouleau GA. Family study of restless legs syndrome in Quebec, Canada: clinical characterization of 671 familial cases. Archives of Neurology. 67: 617-22. PMID 20457962 DOI: 10.1001/archneurol.2010.67  1
2010 Srour M, Rivière JB, Pham JM, Dubé MP, Girard S, Morin S, Dion PA, Asselin G, Rochefort D, Hince P, Diab S, Sharafaddinzadeh N, Chouinard S, Théoret H, Charron F, ... Rouleau GA, et al. Mutations in DCC cause congenital mirror movements. Science (New York, N.Y.). 328: 592. PMID 20431009 DOI: 10.1126/science.1186463  1
2010 Daoud H, Belzil V, Desjarlais A, Camu W, Dion PA, Rouleau GA. Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis. Archives of Neurology. 67: 516-7. PMID 20385924 DOI: 10.1001/archneurol.2010.46  1
2010 Gauthier J, Champagne N, Lafrenière RG, Xiong L, Spiegelman D, Brustein E, Lapointe M, Peng H, Côté M, Noreau A, Hamdan FF, Addington AM, Rapoport JL, Delisi LE, Krebs MO, ... ... Rouleau GA, et al. 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. 107: 7863-8. PMID 20385823 DOI: 10.1073/pnas.0906232107  1
2010 Pasco MY, Catoire H, Parker JA, Brais B, Rouleau GA, Néri C. 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. 38: 425-33. PMID 20227501 DOI: 10.1016/j.nbd.2010.03.002  1
2010 Hamdan FF, Gauthier J, Rouleau GA, Michaud JL. [De novo mutations in SYNGAP1 associated with non-syndromic mental retardation]. MéDecine Sciences : M/S. 26: 133-5. PMID 20188038 DOI: 10.1051/medsci/2010262133  1
2010 Rivière JB, St-Onge J, Gaspar C, Diab S, Dion Y, Lespérance P, Tellier G, Richer F, Chouinard S, Dubé MP, Rouleau GA. Genome-wide TDT analysis in French-Canadian families with Tourette syndrome. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 37: 110-2. PMID 20169783  1
2010 Pasco MY, Rotili D, Altucci L, Farina F, Rouleau GA, Mai A, Néri C. 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. 53: 1407-11. PMID 20041717 DOI: 10.1021/jm9013345  0.48
2010 Daoud H, Valdmanis PN, Dion PA, Rouleau GA. 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. 11: 389-91. PMID 20001489 DOI: 10.3109/17482960903358857  1
2010 Kabashi E, Lin L, Tradewell ML, Dion PA, Bercier V, Bourgouin P, Rochefort D, Bel Hadj S, Durham HD, Vande Velde C, Rouleau GA, Drapeau P. Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo. Human Molecular Genetics. 19: 671-83. PMID 19959528 DOI: 10.1093/hmg/ddp534  1
2010 Graeni C, Stepper F, Sturzenegger M, Merlo A, Verlaan DJ, Andermann F, Baumann CR, Bonassin F, Georgiadis D, Baumgartner RW, Rouleau GA, Siegel AM. Inherited cavernous malformations of the central nervous system: clinical and genetic features in 19 Swiss families. Neurosurgical Review. 33: 47-51. PMID 19760287 DOI: 10.1007/s10143-009-0225-1  1
2010 Cossette P, Rouleau GA. Mutated GABAA receptor subunits in idiopathic generalized epilepsy Epilepsia. 51: 62. DOI: 10.1111/j.1528-1167.2010.02848.x  1
2010 Ferraro TN, Serratosa JM, Pal DK, Rouleau GA, Buono RJ. Strategies for studying the epilepsy genome Epilepsia. 51: 58. DOI: 10.1111/j.1528-1167.2010.02844.x  1
2010 Ruttledge MH, Rouleau GA. Neurofibromatosis Type 2: Further Questions and Answers Encyclopedia of Neuroscience. 427-432. DOI: 10.1016/B978-008045046-9.00597-0  1
2009 Gros-Louis F, Andersen PM, Dupre N, Urushitani M, Dion P, Souchon F, D'Amour M, Camu W, Meininger V, Bouchard JP, Rouleau GA, Julien JP. 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. 106: 21777-82. PMID 20007371 DOI: 10.1073/pnas.0902174106  1
2009 Friedman J, Adam S, Arbour L, Armstrong L, Baross A, Birch P, Boerkoel C, Chan S, Chai D, Delaney AD, Flibotte S, Gibson WT, Langlois S, Lemyre E, Li HI, ... ... Rouleau GA, et al. Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization. Bmc Genomics. 10: 526. PMID 19917086 DOI: 10.1186/1471-2164-10-526  1
2009 Valdmanis PN, Belzil VV, Lee J, Dion PA, St-Onge J, Hince P, Funalot B, Couratier P, Clavelou P, Camu W, Rouleau GA. A mutation that creates a pseudoexon in SOD1 causes familial ALS. Annals of Human Genetics. 73: 652-7. PMID 19847927 DOI: 10.1111/j.1469-1809.2009.00546.x  1
2009 Dion PA, Daoud H, Rouleau GA. Genetics of motor neuron disorders: new insights into pathogenic mechanisms. Nature Reviews. Genetics. 10: 769-82. PMID 19823194 DOI: 10.1038/nrg2680  1
2009 Rivière JB, Xiong L, Levchenko A, St-Onge J, Gaspar C, Dion Y, Lespérance P, Tellier G, Richer F, Chouinard S, Rouleau GA. Association of intronic variants of the BTBD9 gene with Tourette syndrome. Archives of Neurology. 66: 1267-72. PMID 19822783 DOI: 10.1001/archneurol.2009.213  1
2009 Belzil VV, Valdmanis PN, Dion PA, Daoud H, Kabashi E, Noreau A, Gauthier J, Hince P, Desjarlais A, Bouchard JP, Lacomblez L, Salachas F, Pradat PF, Camu W, ... ... Rouleau GA, et al. Mutations in FUS cause FALS and SALS in French and French Canadian populations. Neurology. 73: 1176-9. PMID 19741216 DOI: 10.1212/WNL.0b013e3181bbfeef  1
2009 Srour M, Philibert M, Dion MH, Duquette A, Richer F, Rouleau GA, Chouinard S. Familial congenital mirror movements: report of a large 4-generation family. Neurology. 73: 729-31. PMID 19720981 DOI: 10.1212/WNL.0b013e3181b59bda  1
2009 Sequeira A, Mamdani F, Ernst C, Vawter MP, Bunney WE, Lebel V, Rehal S, Klempan T, Gratton A, Benkelfat C, Rouleau GA, Mechawar N, Turecki G. Global brain gene expression analysis links glutamatergic and GABAergic alterations to suicide and major depression. Plos One. 4: e6585. PMID 19668376 DOI: 10.1371/journal.pone.0006585  1
2009 Hamdan FF, Piton A, Gauthier J, Lortie A, Dubeau F, Dobrzeniecka S, Spiegelman D, Noreau A, Pellerin S, Côté M, Henrion E, Fombonne E, Mottron L, Marineau C, Drapeau P, ... ... Rouleau GA, et al. De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. Annals of Neurology. 65: 748-53. PMID 19557857 DOI: 10.1002/ana.21625  1
2009 Laforce R, Valdmanis PN, Dupré N, Rouleau GA, Turgeon AF, Savard M. A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy. Clinical Neurology and Neurosurgery. 111: 691-4. PMID 19523753 DOI: 10.1016/j.clineuro.2009.05.005  1
2009 Hamdan FF, Gauthier J, Pellerin S, Dobrzeniecka S, Marineau C, Fombonne E, Mottron L, Lafrenière RG, Drapeau P, Lacaille JC, Rouleau GA, Michaud JL. No association between SRGAP3/MEGAP haploinsufficiency and mental retardation. Archives of Neurology. 66: 675-6. PMID 19433673 DOI: 10.1001/archneurol.2009.65  1
2009 Hallmayer J, Faraco J, Lin L, Hesselson S, Winkelmann J, Kawashima M, Mayer G, Plazzi G, Nevsimalova S, Bourgin P, Hong SC, Hong SS, Honda Y, Honda M, Högl B, ... ... Rouleau GA, et al. Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nature Genetics. 41: 708-11. PMID 19412176 DOI: 10.1038/ng.372  1
2009 Rivière JB, Dion P, Shekarabi M, Girard N, Faivre L, Lafrenière RG, Samuels M, Rouleau GA. [Mutations in the HSN2 exon of WNK1 cause hereditary sensory neuropathy type II]. MéDecine Sciences : M/S. 25: 235-8. PMID 19361385 DOI: 10.1051/medsci/2009253235  0.68
2009 Valdmanis PN, Daoud H, Dion PA, Rouleau GA. Recent advances in the genetics of amyotrophic lateral sclerosis. Current Neurology and Neuroscience Reports. 9: 198-205. PMID 19348708 DOI: 10.1007/s11910-009-0030-9  1
2009 Wills AM, Cronin S, Slowik A, Kasperaviciute D, Van Es MA, Morahan JM, Valdmanis PN, Meininger V, Melki J, Shaw CE, Rouleau GA, Fisher EM, Shaw PJ, Morrison KE, Pamphlett R, et al. A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS. Neurology. 73: 16-24. PMID 19321847 DOI: 10.1212/WNL.0b013e3181a18674  1
2009 Messaed C, Rouleau GA. Molecular mechanisms underlying polyalanine diseases. Neurobiology of Disease. 34: 397-405. PMID 19269323 DOI: 10.1016/j.nbd.2009.02.013  0.56
2009 Kwiatkowski TJ, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science (New York, N.Y.). 323: 1205-8. PMID 19251627 DOI: 10.1126/science.1166066  1
2009 Kabashi E, Daoud H, Rivière JB, Valdmanis PN, Valdamanis PN, Bourgouin P, Provencher P, Pourcher E, Dion P, Dupré N, Rouleau GA. No TARDBP mutations in a French Canadian population of patients with Parkinson disease. Archives of Neurology. 66: 281-2. PMID 19204172 DOI: 10.1001/archneurol.2008.568  0.68
2009 Hamdan FF, Gauthier J, Spiegelman D, Noreau A, Yang Y, Pellerin S, Dobrzeniecka S, Côté M, Perreau-Linck E, Perreault-Linck E, Carmant L, D'Anjou G, Fombonne E, Addington AM, Rapoport JL, ... ... Rouleau GA, et al. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. The New England Journal of Medicine. 360: 599-605. PMID 19196676 DOI: 10.1056/NEJMoa0805392  1
2009 Xiong L, Catoire H, Dion P, Gaspar C, Lafrenière RG, Girard SL, Levchenko A, Rivière JB, Fiori L, St-Onge J, Bachand I, Thibodeau P, Allen R, Earley C, Turecki G, ... ... Rouleau GA, et al. MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels. Human Molecular Genetics. 18: 1065-74. PMID 19126776 DOI: 10.1093/hmg/ddn443  1
2009 Levchenko A, Montplaisir JY, Asselin G, Provost S, Girard SL, Xiong L, Lemyre E, St-Onge J, Thibodeau P, Desautels A, Turecki G, Gaspar C, Dubé MP, Rouleau GA. Autosomal-dominant locus for Restless Legs Syndrome in French-Canadians on chromosome 16p12.1. Movement Disorders : Official Journal of the Movement Disorder Society. 24: 40-50. PMID 18946881 DOI: 10.1002/mds.22263  1
2009 Daoud H, Valdmanis PN, Kabashi E, Dion P, Dupré N, Camu W, Meininger V, Rouleau GA. Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis. Journal of Medical Genetics. 46: 112-4. PMID 18931000 DOI: 10.1136/jmg.2008.062463  0.68
2009 McCaffery JM, Duan QL, Frasure-Smith N, Barhdadi A, Lespérance F, Théroux P, Rouleau GA, Dubé MP. Genetic predictors of depressive symptoms in cardiac patients. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 150: 381-8. PMID 18618671 DOI: 10.1002/ajmg.b.30824  1
2009 Gauthier J, Spiegelman D, Piton A, Lafrenière RG, Laurent S, St-Onge J, Lapointe L, Hamdan FF, Cossette P, Mottron L, Fombonne E, Joober R, Marineau C, Drapeau P, Rouleau GA. Novel de novo SHANK3 mutation in autistic patients. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 150: 421-4. PMID 18615476 DOI: 10.1002/ajmg.b.30822  1
2008 Meijer IA, Simoes-Lopes AA, Laurent S, Katz T, St-Onge J, Verlaan DJ, Dupré N, Thibault M, Mathurin J, Bouchard JP, Rouleau GA. A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy. Archives of Neurology. 65: 1496-501. PMID 19001169 DOI: 10.1001/archneur.65.11.1496  0.52
2008 Piton A, Michaud JL, Peng H, Aradhya S, Gauthier J, Mottron L, Champagne N, Lafrenière RG, Hamdan FF, Joober R, Fombonne E, Marineau C, Cossette P, Dubé MP, ... ... Rouleau GA, et al. Mutations in the calcium-related gene IL1RAPL1 are associated with autism. Human Molecular Genetics. 17: 3965-74. PMID 18801879 DOI: 10.1093/hmg/ddn300  1
2008 Chrestian N, Valdmanis PN, Echahidi N, Brunet D, Bouchard JP, Gould P, Rouleau GA, Champagne J, Dupré N. A novel mutation in a large French-Canadian family with LGMD1B. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 35: 331-4. PMID 18714801  0.52
2008 Valdmanis PN, Kabashi E, Dyck A, Hince P, Lee J, Dion P, D'Amour M, Souchon F, Bouchard JP, Salachas F, Meininger V, Andersen PM, Camu W, Dupré N, Rouleau GA. Association of paraoxonase gene cluster polymorphisms with ALS in France, Quebec, and Sweden. Neurology. 71: 514-20. PMID 18695162 DOI: 10.1212/01.wnl.0000324997.21272.0c  0.68
2008 Broom WJ, Greenway M, Sadri-Vakili G, Russ C, Auwarter KE, Glajch KE, Dupre N, Swingler RJ, Purcell S, Hayward C, Sapp PC, McKenna-Yasek D, Valdmanis PN, Bouchard JP, Meininger V, ... ... Rouleau GA, et al. 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. Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group On Motor Neuron Diseases. 9: 229-37. PMID 18608091 DOI: 10.1080/17482960802103107  1
2008 Salin-Cantegrel A, Shekarabi M, Holbert S, Dion P, Rochefort D, Laganière J, Dacal S, Hince P, Karemera L, Gaspar C, Lapointe JY, Rouleau GA. HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3. Human Molecular Genetics. 17: 2703-11. PMID 18566107 DOI: 10.1093/hmg/ddn172  1
2008 Gros-Louis F, Kriz J, Kabashi E, McDearmid J, Millecamps S, Urushitani M, Lin L, Dion P, Zhu Q, Drapeau P, Julien JP, Rouleau GA. Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish. Human Molecular Genetics. 17: 2691-702. PMID 18558633 DOI: 10.1093/hmg/ddn171  1
2008 Shekarabi M, Girard N, Rivière JB, Dion P, Houle M, Toulouse A, Lafrenière RG, Vercauteren F, Hince P, Laganiere J, Rochefort D, Faivre L, Samuels M, Rouleau GA. Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. The Journal of Clinical Investigation. 118: 2496-505. PMID 18521183 DOI: 10.1172/JCI34088  1
2008 Khoury S, Rouleau GA, Rompré PH, Mayer P, Montplaisir JY, Lavigne GJ. A significant increase in breathing amplitude precedes sleep bruxism. Chest. 134: 332-7. PMID 18490400 DOI: 10.1378/chest.08-0115  1
2008 Catoire H, Pasco MY, Abu-Baker A, Holbert S, Tourette C, Brais B, Rouleau GA, Parker JA, Néri C. Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1. Human Molecular Genetics. 17: 2108-17. PMID 18397876 DOI: 10.1093/hmg/ddn109  1
2008 Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nature Genetics. 40: 572-4. PMID 18372902 DOI: 10.1038/ng.132  0.68
2008 Klein AF, Ebihara M, Alexander C, Dicaire MJ, Sasseville AM, Langelier Y, Rouleau GA, Brais B. PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression. Experimental Cell Research. 314: 1652-66. PMID 18367172 DOI: 10.1016/j.yexcr.2008.02.005  1
2008 Dupré N, Chrestian N, Thiffault I, Brais B, Rouleau GA, Bouchard JP. [Hereditary ataxias, spastic parapareses and neuropathies in Eastern Canada]. Revue Neurologique. 164: 12-21. PMID 18342054 DOI: 10.1016/j.neurol.2007.08.006  1
2008 Kinirons P, Verlaan DJ, Dubé MP, Poirier J, Deacon C, Lortie A, Clément JF, Desbiens R, Carmant L, Cieuta-Walti C, Shevell M, Rouleau GA, Cossette P. A novel locus for idiopathic generalized epilepsy in French-Canadian families maps to 10p11. American Journal of Medical Genetics. Part A. 146: 578-84. PMID 18241056 DOI: 10.1002/ajmg.a.32139  1
2008 Valdmanis PN, Kabashi E, Dion PA, Rouleau GA. ALS predisposition modifiers: knock NOX, who's there? SOD1 mice still are. European Journal of Human Genetics : Ejhg. 16: 140-2. PMID 18043718 DOI: 10.1038/sj.ejhg.5201961  1
2008 Fathalli F, Rouleau GA, Xiong L, Tabbane K, Benkelfat C, Deguzman R, Zoltan D, Lal S, D'cruz S, Joober R. No association between the DRD3 Ser9Gly polymorphism and schizophrenia. Schizophrenia Research. 98: 98-104. PMID 17698325 DOI: 10.1016/j.schres.2007.07.002  0.48
2008 Xiong L, Levchenko A, Montplaisir J, Rivière JB, Thibodeau P, St-Onge J, Gaspar C, Desautels A, Lespérance P, Chouinard S, Turecki G, Rouleau GA. Genetic association studies of neurotensin gene and restless legs syndrome in French Canadians. Sleep Medicine. 9: 273-82. PMID 17644423 DOI: 10.1016/j.sleep.2007.03.020  1
2007 Kabashi E, Valdmanis PN, Dion P, Rouleau GA. Oxidized/misfolded superoxide dismutase-1: the cause of all amyotrophic lateral sclerosis? Annals of Neurology. 62: 553-9. PMID 18074357 DOI: 10.1002/ana.21319  1
2007 Martins S, Calafell F, Gaspar C, Wong VC, Silveira I, Nicholson GA, Brunt ER, Tranebjaerg L, Stevanin G, Hsieh M, Soong BW, Loureiro L, Dürr A, Tsuji S, Watanabe M, ... ... Rouleau GA, et al. Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Archives of Neurology. 64: 1502-8. PMID 17923634 DOI: 10.1001/archneur.64.10.1502  1
2007 Martin I, Gauthier J, D'Amelio M, Védrine S, Vourc'h P, Rouleau GA, Persico AM, Andres CR. Transmission disequilibrium study of an oligodendrocyte and myelin glycoprotein gene allele in 431 families with an autistic proband. Neuroscience Research. 59: 426-30. PMID 17897745 DOI: 10.1016/j.neures.2007.08.009  1
2007 Salin-Cantegrel A, Rivière JB, Dupré N, Charron FM, Shekarabi M, Karéméra L, Gaspar C, Horst J, Tekin M, Deda G, Krause A, Lippert MM, Willemsen MA, Jarrar R, Lapointe JY, ... Rouleau GA, et al. Distal truncation of KCC3 in non-French Canadian HMSN/ACC families. Neurology. 69: 1350-5. PMID 17893295 DOI: 10.1212/01.wnl.0000291779.35643.15  1
2007 Dupré N, Rivière JB, Myers RH, Provencher P, Pourcher E, Emond F, Rouleau GA. LRRK2 is not a significant cause of Parkinson's disease in French-Canadians. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 34: 333-5. PMID 17803032  1
2007 Francks C, Maegawa S, Laurén J, Abrahams BS, Velayos-Baeza A, Medland SE, Colella S, Groszer M, McAuley EZ, Caffrey TM, Timmusk T, Pruunsild P, Koppel I, Lind PA, Matsumoto-Itaba N, ... ... Rouleau GA, et al. LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia. Molecular Psychiatry. 12: 1129-39, 1057. PMID 17667961 DOI: 10.1038/sj.mp.4002053  1
2007 Meijer IA, Dupré N, Brais B, Cossette P, St-Onge J, Rioux MF, Benard M, Rouleau GA. SPG4 founder effect in French Canadians with hereditary spastic paraplegia. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 34: 211-4. PMID 17598600  1
2007 Ahmad S, Dahllund L, Eriksson AB, Hellgren D, Karlsson U, Lund PE, Meijer IA, Meury L, Mills T, Moody A, Morinville A, Morten J, O'donnell D, Raynoschek C, Salter H, ... Rouleau GA, et al. A stop codon mutation in SCN9A causes lack of pain sensation. Human Molecular Genetics. 16: 2114-21. PMID 17597096 DOI: 10.1093/hmg/ddm160  1
2007 Xiong L, Dion P, Montplaisir J, Levchenko A, Thibodeau P, Karemera L, Rivière JB, St-Onge J, Gaspar C, Dubé MP, Desautels A, Turecki G, Rouleau GA. Molecular genetic studies of DMT1 on 12q in French-Canadian restless legs syndrome patients and families. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 144: 911-7. PMID 17510944 DOI: 10.1002/ajmg.b.30528  1
2007 Dupré N, Gros-Louis F, Chrestian N, Verreault S, Brunet D, de Verteuil D, Brais B, Bouchard JP, Rouleau GA. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Annals of Neurology. 62: 93-8. PMID 17503513 DOI: 10.1002/ana.21143  1
2007 Xiong L, Jang K, Montplaisir J, Levchenko A, Thibodeau P, Gaspar C, Turecki G, Rouleau GA. Canadian restless legs syndrome twin study. Neurology. 68: 1631-3. PMID 17485653 DOI: 10.1212/01.wnl.0000261016.90374.fd  0.88
2007 Meijer IA, Dion P, Laurent S, Dupré N, Brais B, Levert A, Puymirat J, Rioux MF, Sylvain M, Zhu PP, Soderblom C, Stadler J, Blackstone C, Rouleau GA. Characterization of a novel SPG3A deletion in a French-Canadian family. Annals of Neurology. 61: 599-603. PMID 17427918 DOI: 10.1002/ana.21114  1
2007 Messaed C, Dion PA, Abu-Baker A, Rochefort D, Laganiere J, Brais B, Rouleau GA. Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy. Neurobiology of Disease. 26: 546-57. PMID 17418585 DOI: 10.1016/j.nbd.2007.02.004  1
2007 Dupré N, Valdmanis PN, Bouchard JP, Rouleau GA. Autosomal dominant primary lateral sclerosis. Neurology. 68: 1156-7. PMID 17404201 DOI: 10.1212/01.wnl.0000258678.58808.86  0.52
2007 Sequeira A, Klempan T, Canetti L, ffrench-Mullen J, Benkelfat C, Rouleau GA, Turecki G. Patterns of gene expression in the limbic system of suicides with and without major depression. Molecular Psychiatry. 12: 640-55. PMID 17353912 DOI: 10.1038/sj.mp.4001969  0.88
2007 Duan QL, Dubé MP, Frasure-Smith N, Barhdadi A, Lesperance F, Théroux P, St-Onge J, Rouleau GA, McCaffery JM. Additive effects of obesity and TCF7L2 variants on risk for type 2 diabetes among cardiac patients. Diabetes Care. 30: 1621-3. PMID 17351281 DOI: 10.2337/dc06-2421  1
2007 Dupré N, Bouchard JP, Gros-Louis F, Rouleau GA. [Mutations in SYNE-1 lead to a newly discovered form of autosomal recessive cerebellar ataxia]. MéDecine Sciences : M/S. 23: 261-2. PMID 17349286 DOI: 10.1051/medsci/2007233261  0.52
2007 Beetz C, Zuchner S, Ashley-Koch A, Auer-Grumbach M, Byrne P, Chinnery PF, Hutchinson M, McDermott CJ, Meijer IA, Nygren AO, Pericak-Vance M, Pyle A, Rouleau GA, Schickel J, Shaw PJ, et al. Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause. Human Mutation. 28: 739-40. PMID 17345589 DOI: 10.1002/humu.20508  0.4
2007 Lemay M, Termoz N, Lesperance P, Chouinard S, Rouleau GA, Richer F. Postural control anomalies in children with Tourette syndrome. Experimental Brain Research. 179: 525-30. PMID 17342479 DOI: 10.1007/s00221-007-0882-7  1
2007 Valdmanis PN, Dupre N, Bouchard JP, Camu W, Salachas F, Meininger V, Strong M, Rouleau GA. Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p. Archives of Neurology. 64: 240-5. PMID 17296840 DOI: 10.1001/archneur.64.2.240  0.52
2007 Felbor U, Gaetzner S, Verlaan DJ, Vijzelaar R, Rouleau GA, Siegel AM. Large germline deletions and duplication in isolated cerebral cavernous malformation patients. Neurogenetics. 8: 149-53. PMID 17211633 DOI: 10.1007/s10048-006-0076-7  1
2007 Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. American Journal of Human Genetics. 80: 152-61. PMID 17160902 DOI: 10.1086/510782  1
2007 Gros-Louis F, Dupré N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nature Genetics. 39: 80-5. PMID 17159980 DOI: 10.1038/ng1927  1
2007 Abu-Baker A, Rouleau GA. Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies. Biochimica Et Biophysica Acta. 1772: 173-85. PMID 17110089 DOI: 10.1016/j.bbadis.2006.10.003  0.64
2006 Lauf PK, Adragna NC, Dupre N, Bouchard JP, Rouleau GA. K-Cl cotransport in red blood cells from patients with KCC3 isoform mutants. Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire. 84: 1034-44. PMID 17215889 DOI: 10.1139/o06-203  1
2006 Valdmanis PN, Brunet D, St-Onge J, Weston L, Rouleau GA, Dupré N. A founder haplotype for autosomal dominant sensory ataxia in Eastern Canada. Neurology. 67: 2239-42. PMID 17190954 DOI: 10.1212/01.wnl.0000249314.96183.48  0.44
2006 Jindal HK, Yoshinaga K, Seo PS, Lutchman M, Dion PA, Rouleau GA, Hanada T, Chishti AH. Purification of the NF2 tumor suppressor protein from human erythrocytes. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 33: 394-402. PMID 17168165  0.76
2006 Molinaro G, Duan QL, Chagnon M, Moreau ME, Simon P, Clavel P, Lavaud S, Boileau G, Rouleau GA, Lepage Y, Adam A, Chanard J. Kinin-dependent hypersensitivity reactions in hemodialysis: metabolic and genetic factors. Kidney International. 70: 1823-31. PMID 17003818 DOI: 10.1038/sj.ki.5001873  1
2006 Levchenko A, Provost S, Montplaisir JY, Xiong L, St-Onge J, Thibodeau P, Rivière JB, Desautels A, Turecki G, Dubé MP, Rouleau GA. A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13. Neurology. 67: 900-1. PMID 16966564 DOI: 10.1212/01.wnl.0000233991.20410.b6  1
2006 Marie-Josée Sasseville A, Caron AW, Bourget L, Klein AF, Dicaire MJ, Rouleau GA, Massie B, Langelier Y, Brais B. The dynamism of PABPN1 nuclear inclusions during the cell cycle. Neurobiology of Disease. 23: 621-9. PMID 16860991 DOI: 10.1016/j.nbd.2006.05.015  1
2006 Verlaan DJ, Dubé MP, St-Onge J, Noreau A, Roussel J, Satgé N, Wallace MC, Rouleau GA. A new locus for autosomal dominant intracranial aneurysm, ANIB4, maps to chromosome 5p15.2-14.3. Journal of Medical Genetics. 43: e31. PMID 16740915 DOI: 10.1136/jmg.2005.033209  0.64
2006 Dupré N, Bouchard JP, Brais B, Rouleau GA. Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 33: 149-57. PMID 16736723  1
2006 Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B. A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. Brain : a Journal of Neurology. 129: 2332-40. PMID 16672289 DOI: 10.1093/brain/awl110  1
2006 McCaffery JM, Frasure-Smith N, Dubé MP, Théroux P, Rouleau GA, Duan Q, Lespérance F. Common genetic vulnerability to depressive symptoms and coronary artery disease: a review and development of candidate genes related to inflammation and serotonin. Psychosomatic Medicine. 68: 187-200. PMID 16554382 DOI: 10.1097/01.psy.0000208630.79271.a0  1
2006 Brinkman RR, Dubé MP, Rouleau GA, Orr AC, Samuels ME. Human monogenic disorders - a source of novel drug targets. Nature Reviews. Genetics. 7: 249-60. PMID 16534513 DOI: 10.1038/nrg1828  1
2006 Gros-Louis F, Gaspar C, Rouleau GA. Genetics of familial and sporadic amyotrophic lateral sclerosis. Biochimica Et Biophysica Acta. 1762: 956-72. PMID 16503123 DOI: 10.1016/j.bbadis.2006.01.004  0.44
2006 Cossette P, Rouleau GA. Monogenic epilepsies in humans: molecular mechanisms and relevance for the study of intractable epilepsy. Advances in Neurology. 97: 381-8. PMID 16383149  1
2006 Gauthier J, Joober R, Dubé MP, St-Onge J, Bonnel A, Gariépy D, Laurent S, Najafee R, Lacasse H, St-Charles L, Fombonne E, Mottron L, Rouleau GA. Autism spectrum disorders associated with X chromosome markers in French-Canadian males. Molecular Psychiatry. 11: 206-13. PMID 16261168 DOI: 10.1038/sj.mp.4001756  1
2005 Verlaan DJ, Roussel J, Laurent SB, Elger CE, Siegel AM, Rouleau GA. CCM3 mutations are uncommon in cerebral cavernous malformations. Neurology. 65: 1982-3. PMID 16380626 DOI: 10.1212/01.wnl.0000188903.75144.49  1
2005 Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA. Sacred disease secrets revealed: the genetics of human epilepsy. Human Molecular Genetics. 14: 2491-2500. PMID 16278970  0.4
2005 Gauthier J, de Amorim G, Mnatzakanian GN, Saunders C, Vincent JB, Toupin S, Kauffman D, St-Onge J, Laurent S, Macleod PM, Minassian BA, Rouleau GA. Clinical stringency greatly improves mutation detection in Rett syndrome. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 32: 321-6. PMID 16225173  0.4
2005 Duan QL, Nikpoor B, Dube MP, Molinaro G, Meijer IA, Dion P, Rochefort D, Saint-Onge J, Flury L, Brown NJ, Gainer JV, Rouleau JL, Agostoni A, Cugno M, Simon P, ... ... Rouleau GA, et al. A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors. American Journal of Human Genetics. 77: 617-26. PMID 16175507 DOI: 10.1086/496899  1
2005 Díaz-Anzaldúa A, Rivière JB, Dubé MP, Joober R, Saint-Onge J, Dion Y, Lespérance P, Richer F, Chouinard S, Rouleau GA. Chromosome 11-q24 region in Tourette syndrome: association and linkage disequilibrium study in the French Canadian population. American Journal of Medical Genetics. Part A. 138: 225-8. PMID 16158425 DOI: 10.1002/ajmg.a.30928  1
2005 Abu-Baker A, Laganiere S, Fan X, Laganiere J, Brais B, Rouleau GA. Cytoplasmic targeting of mutant poly(A)-binding protein nuclear 1 suppresses protein aggregation and toxicity in oculopharyngeal muscular dystrophy. Traffic (Copenhagen, Denmark). 6: 766-79. PMID 16101680 DOI: 10.1111/j.1600-0854.2005.00315.x  1
2005 Toulouse A, Au-Yeung F, Gaspar C, Roussel J, Dion P, Rouleau GA. Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts. Human Molecular Genetics. 14: 2649-60. PMID 16087686 DOI: 10.1093/hmg/ddi299  1
2005 Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA. Sacred disease secrets revealed: the genetics of human epilepsy. Human Molecular Genetics. 14: 2491-500. PMID 16049035 DOI: 10.1093/hmg/ddi250  1
2005 Krampfl K, Maljevic S, Cossette P, Ziegler E, Rouleau GA, Lerche H, Bufler J. Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy. The European Journal of Neuroscience. 22: 10-20. PMID 16029191 DOI: 10.1111/j.1460-9568.2005.04168.x  1
2005 Joober R, Rouleau GA, Lal S, Bloom D, Lalonde P, Labelle A, Benkelfat C. Increased prevalence of schizophrenia spectrum disorders in relatives of neuroleptic-nonresponsive schizophrenic patients. Schizophrenia Research. 77: 35-41. PMID 16005383 DOI: 10.1016/j.schres.2005.01.008  0.44
2005 Alda M, Grof P, Rouleau GA, Turecki G, Young LT. Investigating responders to lithium prophylaxis as a strategy for mapping susceptibility genes for bipolar disorder. Progress in Neuro-Psychopharmacology & Biological Psychiatry. 29: 1038-45. PMID 15946781 DOI: 10.1016/j.pnpbp.2005.03.021  0.88
2005 Roddier K, Thomas T, Marleau G, Gagnon AM, Dicaire MJ, St-Denis A, Gosselin I, Sarrazin AM, Larbrisseau A, Lambert M, Vanasse M, Gaudet D, Rouleau GA, Brais B. Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. Neurology. 64: 1762-7. PMID 15911806 DOI: 10.1212/01.WNL.0000161849.29944.43  1
2005 Desautels A, Turecki G, Montplaisir J, Xiong L, Walters AS, Ehrenberg BL, Brisebois K, Desautels AK, Gingras Y, Johnson WG, Lugaresi E, Coccagna G, Picchietti DL, Lazzarini A, Rouleau GA. Restless legs syndrome: confirmation of linkage to chromosome 12q, genetic heterogeneity, and evidence of complexity. Archives of Neurology. 62: 591-6. PMID 15824258 DOI: 10.1001/archneur.62.4.591  1
2005 Corbeil-Girard LP, Klein AF, Sasseville AM, Lavoie H, Dicaire MJ, Saint-Denis A, Pagé M, Duranceau A, Codère F, Bouchard JP, Karpati G, Rouleau GA, Massie B, Langelier Y, Brais B. PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions. Neurobiology of Disease. 18: 551-67. PMID 15755682 DOI: 10.1016/j.nbd.2004.10.019  1
2005 Dion P, Shanmugam V, Gaspar C, Messaed C, Meijer I, Toulouse A, Laganiere J, Roussel J, Rochefort D, Laganiere S, Allen C, Karpati G, Bouchard JP, Brais B, Rouleau GA. Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice. Neurobiology of Disease. 18: 528-36. PMID 15755680 DOI: 10.1016/j.nbd.2004.09.021  1
2005 Siegel AM, Bertalanffy H, Dichgans JJ, Elger CE, Hopf H, Hopf N, Keidel M, Kleider A, Nowak G, Pfeiffer RA, Schramm J, Spuck S, Stefan H, Sure U, Baumann CR, ... Rouleau GA, et al. [Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families]. Der Nervenarzt. 76: 175-80. PMID 15702360 DOI: 10.1007/s00115-004-1779-3  1
2005 Xiong L, Rouleau GA, Delisi LE, St-Onge J, Najafee R, Rivière JB, Benkelfat C, Tabbane K, Fathalli F, Danics Z, Labelle A, Lal S, Joober R. CAA insertion polymorphism in the 3'UTR of Nogo gene on 2p14 is not associated with schizophrenia. Brain Research. Molecular Brain Research. 133: 153-6. PMID 15661375 DOI: 10.1016/j.molbrainres.2004.08.024  0.48
2005 Cossette P, Lortie A, Vanasse M, Saint-Hilaire JM, Rouleau GA. Autosomal dominant juvenile myoclonic epilepsy and GABRA1. Advances in Neurology. 95: 255-63. PMID 15508928  1
2004 Verlaan DJ, Laurent SB, Rouleau GA, Siegel AM. No CCM2 mutations in a cohort of 31 sporadic cases. Neurology. 63: 1979. PMID 15557534  1
2004 Grewal KK, Stefanelli MG, Meijer IA, Hand CK, Rouleau GA, Ives EJ. A founder effect in three large Newfoundland families with a novel clinically variable spastic ataxia and supranuclear gaze palsy. American Journal of Medical Genetics. Part A. 131: 249-54. PMID 15523628 DOI: 10.1002/ajmg.a.30397  0.4
2004 Meijer IA, Cossette P, Roussel J, Benard M, Toupin S, Rouleau GA. A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1. Annals of Neurology. 56: 579-82. PMID 15455396 DOI: 10.1002/ana.20239  1
2004 Levchenko A, Montplaisir JY, Dubé MP, Riviere JB, St-Onge J, Turecki G, Xiong L, Thibodeau P, Desautels A, Verlaan DJ, Rouleau GA. The 14q restless legs syndrome locus in the French Canadian population. Annals of Neurology. 55: 887-91. PMID 15174026 DOI: 10.1002/ana.20140  1
2004 Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O'Driscoll M, Brais B, Meilleur S, Brinkman RR, Dadivas O, Pape T, Platon C, Radomski C, Risler J, Thompson J, Guerra-Escobio AM, ... ... Rouleau GA, et al. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. American Journal of Human Genetics. 74: 1064-73. PMID 15060842 DOI: 10.1086/420795  1
2004 Desautels A, Turecki G, Xiong L, Rochefort D, Montplaisir J, Rouleau GA. Mutational analysis of neurotensin in familial restless legs syndrome. Movement Disorders : Official Journal of the Movement Disorder Society. 19: 90-4. PMID 14743366 DOI: 10.1002/mds.10617  1
2004 Sun X, Young LT, Wang JF, Grof P, Turecki G, Rouleau GA, Alda M. Identification of lithium-regulated genes in cultured lymphoblasts of lithium responsive subjects with bipolar disorder. Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. 29: 799-804. PMID 14735134 DOI: 10.1038/sj.npp.1300383  0.88
2003 Desautels A, Turecki G, Montplaisir J, Brisebois K, Desautels AK, Adam B, Rouleau GA. Analysis of CAG repeat expansions in restless legs syndrome. Sleep. 26: 1055-7. PMID 14746390  1
2003 Lavoie H, Debeane F, Trinh QD, Turcotte JF, Corbeil-Girard LP, Dicaire MJ, Saint-Denis A, Pagé M, Rouleau GA, Brais B. Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains. Human Molecular Genetics. 12: 2967-79. PMID 14519685 DOI: 10.1093/hmg/ddg329  1
2003 Fan X, Messaed C, Dion P, Laganiere J, Brais B, Karpati G, Rouleau GA. HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 30: 244-51. PMID 12945950  1
2003 Abu-Baker A, Messaed C, Laganiere J, Gaspar C, Brais B, Rouleau GA. Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy. Human Molecular Genetics. 12: 2609-23. PMID 12944420 DOI: 10.1093/hmg/ddg293  1
2003 Dupré N, Howard HC, Mathieu J, Karpati G, Vanasse M, Bouchard JP, Carpenter S, Rouleau GA. Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. Annals of Neurology. 54: 9-18. PMID 12838516 DOI: 10.1002/ana.77777  1
2003 Howard HC, Dupré N, Mathieu J, Bouchard JP, Rouleau GA. [Severe neuropathy with agenesis of the corpus callosum]. MéDecine Sciences : M/S. 19: 414-6. PMID 12836214 DOI: 10.1051/medsci/2003194414  1
2003 Segurado R, Detera-Wadleigh SD, Levinson DF, Lewis CM, Gill M, Nurnberger JI, Craddock N, DePaulo JR, Baron M, Gershon ES, Ekholm J, Cichon S, Turecki G, Claes S, Kelsoe JR, ... ... Rouleau GA, et al. Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. American Journal of Human Genetics. 73: 49-62. PMID 12802785 DOI: 10.1086/376547  1
2003 Fan X, Rouleau GA. Progress in understanding the pathogenesis of oculopharyngeal muscular dystrophy. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 30: 8-14. PMID 12619777  1
2003 Gros-Louis F, Meijer IA, Hand CK, Dubé MP, MacGregor DL, Seni MH, Devon RS, Hayden MR, Andermann F, Andermann E, Rouleau GA. An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred. Annals of Neurology. 53: 144-5. PMID 12509863 DOI: 10.1002/ana.10422  0.4
2002 Howard HC, Mount DB, Rochefort D, Byun N, Dupré N, Lu J, Fan X, Song L, Rivière JB, Prévost C, Horst J, Simonati A, Lemcke B, Welch R, England R, ... ... Rouleau GA, et al. The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nature Genetics. 32: 384-92. PMID 12368912 DOI: 10.1038/ng1002  1
2002 Howard HC, Dubé MP, Prévost C, Bouchard JP, Mathieu J, Rouleau GA. Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population. European Journal of Human Genetics : Ejhg. 10: 406-12. PMID 12107814 DOI: 10.1038/sj.ejhg.5200815  1
2001 Fan X, Dion P, Laganiere J, Brais B, Rouleau GA. Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death. Human Molecular Genetics. 10: 2341-51. PMID 11689481  1
2001 Jannatipour M, Dion P, Khan S, Jindal H, Fan X, Laganière J, Chishti AH, Rouleau GA. Schwannomin isoform-1 interacts with syntenin via PDZ domains. The Journal of Biological Chemistry. 276: 33093-100. PMID 11432873 DOI: 10.1074/jbc.M105792200  1
2000 Blumen SC, Korczyn AD, Lavoie H, Medynski S, Chapman J, Asherov A, Nisipeanu P, Inzelberg R, Carasso RL, Bouchard JP, Tomé FM, Rouleau GA, Brais B. Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene. Neurology. 55: 1267-70. PMID 11087766  1
2000 Shanmugam V, Dion P, Rochefort D, Laganière J, Brais B, Rouleau GA. PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy. Annals of Neurology. 48: 798-802. PMID 11079546 DOI: 10.1002/1531-8249(200011)48:5<798::AID-ANA16>3.0.CO;2-U  1
2000 Kibar Z, Dubé MP, Powell J, McCuaïg C, Hayflick SJ, Zonana J, Hovnanian A, Radhakrishna U, Antonarakis SE, Benohanian A, Sheeran AD, Stephan ML, Gosselin R, Kelsell DP, Christianson AL, ... ... Rouleau GA, et al. Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping. European Journal of Human Genetics : Ejhg. 8: 372-80. PMID 10854098 DOI: 10.1038/sj.ejhg.5200471  0.52
1998 Chishti AH, Kim AC, Marfatia SM, Lutchman M, Hanspal M, Jindal H, Liu SC, Low PS, Rouleau GA, Mohandas N, Chasis JA, Conboy JG, Gascard P, Takakuwa Y, Huang SC, et al. The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane. Trends in Biochemical Sciences. 23: 281-2. PMID 9757824 DOI: 10.1016/S0968-0004(98)01237-7  1
1997 Lafrenière RG, Kibar Z, Rochefort DL, Han FY, Fon EA, Dubé MP, Kang X, Baird S, Korneluk RG, Rommens JM, Rouleau GA. Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3. Gene. 198: 313-21. PMID 9370297 DOI: 10.1016/S0378-1119(97)00333-8  1
1997 Dubé MP, Mlodzienski MA, Kibar Z, Farlow MR, Ebers G, Harper P, Kolodny EH, Rouleau GA, Figlewicz DA. Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait. American Journal of Human Genetics. 60: 625-9. PMID 9042923  1
1996 Fink JK, Heiman-Patterson T, Bird T, Cambi F, Dubé MP, Figlewicz DA, Fink JK, Haines JL, Heiman-Patterson T, Hentati A, Pericak-Vance MA, Raskind W, Rouleau GA, Siddique T. Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. Neurology. 46: 1507-14. PMID 8649538  1
1991 Fontaine B, Rouleau GA, Seizinger BR, Menon AG, Jewell AF, Martuza RL, Gusella JF. Molecular genetics of neurofibromatosis 2 and related tumors (acoustic neuroma and meningioma). Annals of the New York Academy of Sciences. 615: 338-43. PMID 2039155  1
1991 Brown RH, Horvitz HR, Rouleau GA, McKenna-Yasek D, Beard C, Sapp P, Haines JL, Gusella JF, Figlewicz DA. Gene linkage in familial amyotrophic lateral sclerosis: a progress report. Advances in Neurology. 56: 215-26. PMID 1853758  1
1991 Fontaine B, Trofatter J, Rouleau GA, Khurana TS, Haines J, Brown R, Gusella JF. Different gene loci for hyperkalemic and hypokalemic periodic paralysis. Neuromuscular Disorders : Nmd. 1: 235-8. PMID 1822800  0.44
1990 Rouleau GA, Bazanowski A, Gusella JF, Haines JL. A genetic map of chromosome 1: comparison of different data sets and linkage programs. Genomics. 7: 313-8. PMID 2365352  0.44
1990 Fontaine B, Rouleau GA, Seizinger B, Jewell AF, Hanson MP, Martuza RL, Gusella JF. Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting. American Journal of Human Genetics. 47: 823-7. PMID 2220822  1
1990 Rouleau GA, Seizinger BR, Wertelecki W, Haines JL, Superneau DW, Martuza RL, Gusella JF. Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22. American Journal of Human Genetics. 46: 323-8. PMID 2105641  1
1990 Fontaine B, Hanson MP, Liou HC, Glimcher LH, Rouleau GA, Gusella JF. BanI polymorphism at the XBP1 locus. Nucleic Acids Research. 18: 5578. PMID 1977120 DOI: 10.1093/nar/18.18.5578-a  1
1989 Rouleau GA, Haines JL, Bazanowski A, Colella-Crowley A, Trofatter JA, Wexler NS, Conneally PM, Gusella JF. A genetic linkage map of the long arm of human chromosome 22. Genomics. 4: 1-6. PMID 2563348 DOI: 10.1016/0888-7543(89)90306-6  1
1988 Wertelecki W, Rouleau GA, Superneau DW, Forehand LW, Williams JP, Haines JL, Gusella JF. Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred. The New England Journal of Medicine. 319: 278-83. PMID 3134615 DOI: 10.1056/NEJM198808043190505  0.44
1988 Rouleau GA, Bazanowski A, Cohen EH, Guellaen G, Gusella JF. Gamma-glutamyl transferase locus (GGT) displays a PvuII polymorphism. Nucleic Acids Research. 16: 11848. PMID 2905445  0.44
1988 Rouleau GA, Kurnit DM, Neve RL, Bazanowsky A, Patterson D, Gusella JF. D22S15--a fetal brain cDNA with BanII and SacI RFLP. Nucleic Acids Research. 16: 1646. PMID 2894636  0.44
1988 Martuza RL, Seizinger BR, Jacoby LB, Rouleau GA, Gusella JF. The molecular biology of human glial tumors. Trends in Neurosciences. 11: 22-7. PMID 2469150 DOI: 10.1016/0166-2236(88)90045-8  1
1987 Rouleau GA, Wertelecki W, Haines JL, Hobbs WJ, Trofatter JA, Seizinger BR, Martuza RL, Superneau DW, Conneally PM, Gusella JF. Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature. 329: 246-8. PMID 2888021 DOI: 10.1038/329246a0  1
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