| Year |
Citation |
Score |
| 2024 |
Ou AH, Rosenthal SB, Adli M, Akiyama K, Akula N, Alda M, Amare AT, Ardau R, Arias B, Aubry JM, Backlund L, Bauer M, Baune BT, Bellivier F, Benabarre A, ... ... Rouleau GA, et al. Lithium response in bipolar disorder is associated with focal adhesion and PI3K-Akt networks: a multi-omics replication study. Translational Psychiatry. 14: 109. PMID 38395906 DOI: 10.1038/s41398-024-02811-4 |
0.657 |
|
| 2023 |
Akçimen F, Chia R, Saez-Atienzar S, Ruffo P, Rasheed M, Ross JP, Liao C, Ray A, Dion PA, Scholz SW, Rouleau GA, Traynor BJ. Genomic analysis identifies risk factors in restless legs syndrome. Medrxiv : the Preprint Server For Health Sciences. PMID 38168192 DOI: 10.1101/2023.12.19.23300211 |
0.815 |
|
| 2023 |
Herrera-Rivero M, Adli M, Akiyama K, Akula N, Amare AT, Ardau R, Arias B, Aubry JM, Backlund L, Bellivier F, Benabarre A, Bengesser S, Bhattacharjee AK, Biernacka JM, Birner A, ... ... Rouleau GA, et al. Exploring the genetics of lithium response in bipolar disorders. Research Square. PMID 38077040 DOI: 10.21203/rs.3.rs-3677630/v1 |
0.777 |
|
| 2023 |
Schmilovich Z, Bourque VR, Douard E, Huguet G, Poulain C, Ross JP, Alipour P, Castonguay CÉ, Younis N, Jean-Louis M, Saci Z, Pausova Z, Paus T, Schuman G, Porteous D, ... ... Rouleau GA, et al. Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability. Medrxiv : the Preprint Server For Health Sciences. PMID 38076919 DOI: 10.1101/2023.11.29.23299190 |
0.632 |
|
| 2023 |
Kelsoe J, Ou A, Rosenthal S, Adli M, Akiyama K, Akula N, Alda M, Amare AT, Ardau R, Arias B, Aubry JM, Backlund L, Banzato C, Bauer M, Baune B, ... ... Rouleau G, et al. Lithium Response in Bipolar Disorder is Associated with Focal Adhesion and PI3K-Akt Networks: A Multi-omics Replication Study. Research Square. PMID 37886563 DOI: 10.21203/rs.3.rs-3258813/v1 |
0.769 |
|
| 2023 |
Docherty AR, Mullins N, Ashley-Koch AE, Qin X, Coleman JRI, Shabalin A, Kang J, Murnyak B, Wendt F, Adams M, Campos AI, DiBlasi E, Fullerton JM, Kranzler HR, Bakian AV, ... ... Rouleau GA, et al. GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors. The American Journal of Psychiatry. 180: 723-738. PMID 37777856 DOI: 10.1176/appi.ajp.21121266 |
0.772 |
|
| 2023 |
Ross JP, Akçimen F, Liao C, Kwan K, Phillips DE, Schmilovich Z, Spiegelman D, Genge A, Dupré N, Dion PA, Farhan SMK, Rouleau GA. Rare variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 100967. PMID 37638500 DOI: 10.1016/j.gim.2023.100967 |
0.805 |
|
| 2023 |
Alkhalifa A, Chen S, Hasiloglu ZI, Filosto M, Cali E, Houlden H, Sgobbi de Souza P, Alavi A, Goizet C, Stevanin G, Taithe F, Nicita F, Vasco G, Tozza S, Cocozza S, ... ... Rouleau G, et al. White matter abnormalities in 15 subjects with SPG76. Journal of Neurology. PMID 37578488 DOI: 10.1007/s00415-023-11918-5 |
0.502 |
|
| 2023 |
Herrera-Rivero M, Gutiérrez-Fragoso K, Thalamuthu A, Amare AT, Adli M, Akiyama K, Akula N, Ardau R, Arias B, Aubry JM, Backlund L, Bellivier F, Benabarre A, Bengesser S, Abesh B, ... ... Rouleau G, et al. Immunogenetics of lithium response and psychiatric phenotypes in patients with bipolar disorder. Research Square. PMID 37461719 DOI: 10.21203/rs.3.rs-3068352/v1 |
0.783 |
|
| 2023 |
Amare AT, Thalamuthu A, Schubert KO, Fullerton JM, Ahmed M, Hartmann S, Papiol S, Heilbronner U, Degenhardt F, Tekola-Ayele F, Hou L, Hsu YH, Shekhtman T, Adli M, Akula N, ... ... Rouleau GA, et al. Association of polygenic score and the involvement of cholinergic and glutamatergic pathways with lithium treatment response in patients with bipolar disorder. Molecular Psychiatry. PMID 37433967 DOI: 10.1038/s41380-023-02149-1 |
0.777 |
|
| 2023 |
Mascheretti S, Forni D, Lampis V, Fumagalli L, Paquin S, Andlauer TFM, Wang W, Dionne G, Brendgen MR, Vitaro F, Ouellet-Morin I, Rouleau G, Gouin JP, Côté S, Tremblay RE, et al. Adolescent anxiety and pain problems: A joint, genome-wide investigation and pathway-based analysis. Plos One. 18: e0285263. PMID 37146008 DOI: 10.1371/journal.pone.0285263 |
0.358 |
|
| 2023 |
Liao C, Moyses-Oliveira M, De Esch CEF, Bhavsar R, Nuttle X, Li A, Yu A, Burt ND, Erdin S, Fu JM, Wang M, Morley T, Han L, Dion PA, Rouleau GA, et al. Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies. Cell Genomics. 3: 100277. PMID 37082147 DOI: 10.1016/j.xgen.2023.100277 |
0.672 |
|
| 2023 |
Zwicker A, Fullerton JM, Mullins N, Rice F, Hafeman DM, van Haren NEM, Setiaman N, Merranko JA, Goldstein BI, Ferrera AG, Stapp EK, de la Serna E, Moreno D, Sugranyes G, Herrero SM, ... ... Rouleau G, et al. Polygenic Scores and Onset of Major Mood or Psychotic Disorders Among Offspring of Affected Parents. The American Journal of Psychiatry. appiajp20220476. PMID 36856707 DOI: 10.1176/appi.ajp.20220476 |
0.58 |
|
| 2023 |
Amare A, Thalamuthu A, Schubert KO, Fullerton J, Ahmed M, Hartmann S, Papiol S, Heilbronner U, Degenhardt F, Tekola-Ayele F, Hou L, Hsu YH, Shekhtman T, Adli M, Akula N, ... ... Rouleau G, et al. Association of Polygenic Score and the involvement of Cholinergic and Glutamatergic Pathways with Lithium Treatment Response in Patients with Bipolar Disorder. Research Square. PMID 36824922 DOI: 10.21203/rs.3.rs-2580252/v1 |
0.778 |
|
| 2023 |
Tamaki Y, Ross JP, Alipour P, Castonguay CÉ, Li B, Catoire H, Rochefort D, Urushitani M, Takahashi R, Sonnen JA, Stifani S, Dion PA, Rouleau GA. Spinal cord extracts of amyotrophic lateral sclerosis spread TDP-43 pathology in cerebral organoids. Plos Genetics. 19: e1010606. PMID 36745687 DOI: 10.1371/journal.pgen.1010606 |
0.635 |
|
| 2022 |
Alipour P, Senkevich K, Ross JP, Spiegelman D, Manousaki D, Dion PA, Rouleau GA. Investigation of the causal relationship between ALS and autoimmune disorders: a Mendelian randomization study. Bmc Medicine. 20: 382. PMID 36320012 DOI: 10.1186/s12916-022-02578-9 |
0.66 |
|
| 2022 |
Peretz I, Ross J, Bourassa CV, Perreault LL, Dion PA, Weiss MW, Felezeu M, Rouleau GA, Dubé MP. Do variants in the coding regions of FOXP2, a gene implicated in speech disorder, confer a risk for congenital amusia? Annals of the New York Academy of Sciences. PMID 35980667 DOI: 10.1111/nyas.14883 |
0.764 |
|
| 2022 |
Castonguay CE, Liao C, Khayachi A, Liu Y, Medeiros M, Houle G, Ross JP, Dion PA, Rouleau GA. Transcriptomic effects of propranolol and primidone converge on molecular pathways relevant to essential tremor. Npj Genomic Medicine. 7: 46. PMID 35927430 DOI: 10.1038/s41525-022-00318-9 |
0.813 |
|
| 2022 |
Ross JP, Akçimen F, Liao C, Spiegelman D, Weisburd B, Dupré N, Dion PA, Rouleau GA, Farhan SMK. Questioning the Association of the Dinucleotide Repeat With Amyotrophic Lateral Sclerosis. Neurology. Genetics. 8: e678. PMID 35923349 DOI: 10.1212/NXG.0000000000000678 |
0.793 |
|
| 2022 |
Salmon K, Ross JP, Bertone V, Gobbo M, Anoja N, Karamchandani J, Dion PA, Rouleau GA, Genge A. The value of testing for ATXN2 intermediate repeat expansions in routine clinical practice for amyotrophic lateral sclerosis. European Journal of Human Genetics : Ejhg. PMID 35864146 DOI: 10.1038/s41431-022-01146-2 |
0.594 |
|
| 2022 |
Schubert KO, Thalamuthu A, Amare AT, Frank J, Streit F, Adl M, Akula N, Akiyama K, Ardau R, Arias B, Aubry JM, Backlund L, Bhattacharjee AK, Bellivier F, Benabarre A, ... ... Rouleau GA, et al. Correction: Combining schizophrenia and depression polygenic risk scores improves the genetic prediction of lithium response in bipolar disorder patients. Translational Psychiatry. 12: 278. PMID 35817769 DOI: 10.1038/s41398-022-02037-2 |
0.765 |
|
| 2022 |
Akçimen F, Dion PA, Rouleau GA. Progress in the genetics of RLS: the path ahead in the era of WGS. Sleep. PMID 35675840 DOI: 10.1093/sleep/zsac136 |
0.698 |
|
| 2022 |
Cearns M, Amare AT, Schubert KO, Thalamuthu A, Frank J, Streit F, Adli M, Akula N, Akiyama K, Ardau R, Arias B, Aubry J, Backlund L, Bhattacharjee AK, Bellivier F, ... ... Rouleau GA, et al. Using polygenic scores and clinical data for bipolar disorder patient stratification and lithium response prediction: machine learning approach - CORRIGENDUM. The British Journal of Psychiatry : the Journal of Mental Science. 1. PMID 35505515 DOI: 10.1192/bjp.2022.55 |
0.745 |
|
| 2022 |
Duncan CJA, Skouboe MK, Howarth S, Hollensen AK, Chen R, Børresen ML, Thompson BJ, Stremenova Spegarova J, Hatton CF, Stæger FF, Andersen MK, Whittaker J, Paludan SR, Jørgensen SE, Thomsen MK, ... ... Rouleau G, et al. Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic. The Journal of Experimental Medicine. 219. PMID 35442417 DOI: 10.1084/jem.20212427 |
0.589 |
|
| 2022 |
Liao C, Vuokila V, Catoire H, Akçimen F, Ross JP, Bourassa CV, Dion PA, Meijer IA, Rouleau GA. Transcriptome-wide association study reveals increased neuronal FLT3 expression is associated with Tourette's syndrome. Communications Biology. 5: 289. PMID 35354918 DOI: 10.1038/s42003-022-03231-0 |
0.808 |
|
| 2022 |
Cearns M, Amare AT, Schubert KO, Thalamuthu A, Frank J, Streit F, Adli M, Akula N, Akiyama K, Ardau R, Arias B, Aubry JM, Backlund L, Bhattacharjee AK, Bellivier F, ... ... Rouleau GA, et al. Using polygenic scores and clinical data for bipolar disorder patient stratification and lithium response prediction: machine learning approach. The British Journal of Psychiatry : the Journal of Mental Science. 1-10. PMID 35225756 DOI: 10.1192/bjp.2022.28 |
0.762 |
|
| 2022 |
Hop PJ, Zwamborn RAJ, Hannon E, Shireby GL, Nabais MF, Walker EM, van Rheenen W, van Vugt JJFA, Dekker AM, Westeneng HJ, Tazelaar GHP, van Eijk KR, Moisse M, Baird D, Al Khleifat A, ... ... Rouleau GA, et al. Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS. Science Translational Medicine. 14: eabj0264. PMID 35196023 DOI: 10.1126/scitranslmed.abj0264 |
0.646 |
|
| 2022 |
Kalman JL, Yoshida T, Andlauer TFM, Schulte EC, Adorjan K, Alda M, Ardau R, Aubry JM, Brosch K, Budde M, Chillotti C, Czerski PM, DePaulo RJ, Forstner A, Goes FS, ... ... Rouleau G, et al. Investigating the phenotypic and genetic associations between personality traits and suicidal behavior across major mental health diagnoses. European Archives of Psychiatry and Clinical Neuroscience. PMID 35146571 DOI: 10.1007/s00406-021-01366-5 |
0.647 |
|
| 2022 |
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, ... ... Rouleau GA, et al. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics. PMID 35102318 DOI: 10.1038/s41588-022-01020-3 |
0.666 |
|
| 2022 |
Roy V, Ross JP, Pépin R, Cortez Ghio S, Brodeur A, Touzel Deschênes L, Le-Bel G, Phillips DE, Milot G, Dion PA, Guérin S, Germain L, Berthod F, Auger FA, Rouleau GA, et al. Moyamoya Disease Susceptibility Gene Regulates Endothelial Barrier Function. Stroke. STROKEAHA120032691. PMID 34991336 DOI: 10.1161/STROKEAHA.120.032691 |
0.662 |
|
| 2022 |
Liao C, Castonguay CE, Heilbron K, Vuokila V, Medeiros M, Houle G, Akçimen F, Ross JP, Catoire H, Diez-Fairen M, Kang J, Mueller SH, Girard SL, Hopfner F, Lorenz D, ... ... Rouleau GA, et al. Association of Essential Tremor With Novel Risk Loci: A Genome-Wide Association Study and Meta-analysis. Jama Neurology. PMID 34982113 DOI: 10.1001/jamaneurol.2021.4781 |
0.813 |
|
| 2021 |
Coombes BJ, Millischer V, Batzler A, Larrabee B, Hou L, Papiol S, Heilbronner U, Adli M, Akiyama K, Akula N, Amare AT, Ardau R, Arias B, Aubry JM, Backlund L, ... ... Rouleau GA, et al. Association of Attention-Deficit/Hyperactivity Disorder and Depression Polygenic Scores with Lithium Response: A Consortium for Lithium Genetics Study. Complex Psychiatry. 7: 80-89. PMID 36408127 DOI: 10.1159/000519707 |
0.768 |
|
| 2021 |
Kalman JL, Olde Loohuis LM, Vreeker A, McQuillin A, Stahl EA, Ruderfer D, Grigoroiu-Serbanescu M, Panagiotaropoulou G, Ripke S, Bigdeli TB, Stein F, Meller T, Meinert S, Pelin H, Streit F, ... ... Rouleau G, et al. Characterisation of age and polarity at onset in bipolar disorder. The British Journal of Psychiatry : the Journal of Mental Science. 219: 659-669. PMID 35048876 DOI: 10.1192/bjp.2021.102 |
0.767 |
|
| 2021 |
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, ... ... Rouleau GA, et al. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics. 53: 1636-1648. PMID 34873335 DOI: 10.1038/s41588-021-00973-1 |
0.695 |
|
| 2021 |
Mullins N, Kang J, Campos AI, Coleman JRI, Edwards AC, Galfalvy H, Levey DF, Lori A, Shabalin A, Starnawska A, Su MH, Watson HJ, Adams M, Awasthi S, Gandal M, ... ... Rouleau GA, et al. Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors. Biological Psychiatry. PMID 34861974 DOI: 10.1016/j.biopsych.2021.05.029 |
0.772 |
|
| 2021 |
Schubert KO, Thalamuthu A, Amare AT, Frank J, Streit F, Adl M, Akula N, Akiyama K, Ardau R, Arias B, Aubry JM, Backlund L, Bhattacharjee AK, Bellivier F, Benabarre A, ... ... Rouleau GA, et al. Combining schizophrenia and depression polygenic risk scores improves the genetic prediction of lithium response in bipolar disorder patients. Translational Psychiatry. 11: 606. PMID 34845190 DOI: 10.1038/s41398-021-01702-2 |
0.784 |
|
| 2021 |
He Q, Jantac Mam-Lam-Fook C, Chaignaud J, Danset-Alexandre C, Iftimovici A, Gradels Hauguel J, Houle G, Liao C, Dion PA, Rouleau GA, Kebir O, Krebs MO, Chaumette B. Influence of polygenic risk scores for schizophrenia and resilience on the cognition of individuals at-risk for psychosis. Translational Psychiatry. 11: 518. PMID 34628483 DOI: 10.1038/s41398-021-01624-z |
0.749 |
|
| 2021 |
Le Clerc S, Lombardi L, Baune BT, Amare AT, Schubert KO, Hou L, Clark SR, Papiol S, Cearns M, Heilbronner U, Degenhardt F, Tekola-Ayele F, Hsu YH, Shekhtman T, Adli M, ... ... Rouleau GA, et al. HLA-DRB1 and HLA-DQB1 genetic diversity modulates response to lithium in bipolar affective disorders. Scientific Reports. 11: 17823. PMID 34497278 DOI: 10.1038/s41598-021-97140-7 |
0.775 |
|
| 2021 |
Morneau-Vaillancourt G, Andlauer TFM, Ouellet-Morin I, Paquin S, Brendgen MR, Vitaro F, Gouin JP, Séguin JR, Gagnon É, Cheesman R, Forget-Dubois N, Rouleau GA, Turecki G, Tremblay RE, Côté SM, et al. Polygenic scores differentially predict developmental trajectories of subtypes of social withdrawal in childhood. Journal of Child Psychology and Psychiatry, and Allied Disciplines. PMID 34085288 DOI: 10.1111/jcpp.13459 |
0.358 |
|
| 2021 |
Khayachi A, Ase A, Liao C, Kamesh A, Kuhlmann N, Schorova L, Chaumette B, Dion P, Alda M, Séguéla P, Rouleau G, Milnerwood A. Chronic lithium treatment alters the excitatory/ inhibitory balance of synaptic networks and reduces mGluR5-PKC signalling in mouse cortical neurons. Journal of Psychiatry & Neuroscience : Jpn. 46: E402-E414. PMID 34077150 DOI: 10.1503/jpn.200185 |
0.729 |
|
| 2021 |
Oliveira LM, Rastin T, Nimmo GAM, Ross JP, Dion PA, Zhang M, Nevay DL, Arkadir D, Gotkine M, Barnett C, Shoesmith CL, Zimran A, Rogaeva EA, Zinman L, Rouleau GA, et al. Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease. Neurology. Genetics. 7: e600. PMID 34017912 DOI: 10.1212/NXG.0000000000000600 |
0.644 |
|
| 2021 |
Mullins N, Forstner AJ, O'Connell KS, Coombes B, Coleman JRI, Qiao Z, Als TD, Bigdeli TB, Børte S, Bryois J, Charney AW, Drange OK, Gandal MJ, Hagenaars SP, Ikeda M, ... ... Rouleau GA, et al. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology. Nature Genetics. PMID 34002096 DOI: 10.1038/s41588-021-00857-4 |
0.825 |
|
| 2021 |
Alfradique-Dunham I, Al-Ouran R, von Coelln R, Blauwendraat C, Hill E, Luo L, Stillwell A, Young E, Kaw A, Tan M, Liao C, Hernandez D, Pihlstrom L, Grosset D, Shulman LM, ... ... Rouleau GA, et al. Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes. Neurology. Genetics. 7: e557. PMID 33987465 DOI: 10.1212/NXG.0000000000000557 |
0.613 |
|
| 2021 |
da Graça FF, Peluzzo TM, Bonadia LC, Martinez ARM, Diniz de Lima F, Pedroso JL, Barsottini OGP, Gama MTD, Akçimen F, Dion PA, Rouleau GA, Marques W, França MC. Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective. Cerebellum (London, England). PMID 33956305 DOI: 10.1007/s12311-021-01268-1 |
0.734 |
|
| 2021 |
Estiar MA, Yu E, Haj Salem I, Ross JP, Mufti K, Akçimen F, Leveille E, Spiegelman D, Ruskey JA, Asayesh F, Dagher A, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, ... ... Rouleau GA, et al. Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 33598982 DOI: 10.1002/mds.28528 |
0.805 |
|
| 2021 |
Stone W, Nunes A, Akiyama K, Akula N, Ardau R, Aubry JM, Backlund L, Bauer M, Bellivier F, Cervantes P, Chen HC, Chillotti C, Cruceanu C, Dayer A, Degenhardt F, ... ... Rouleau G, et al. Prediction of lithium response using genomic data. Scientific Reports. 11: 1155. PMID 33441847 DOI: 10.1038/s41598-020-80814-z |
0.715 |
|
| 2021 |
Nunes A, Stone W, Ardau R, Berghöfer A, Bocchetta A, Chillotti C, Deiana V, Degenhardt F, Forstner AJ, Garnham JS, Grof E, Hajek T, Manchia M, Mattheisen M, McMahon F, ... ... Rouleau G, et al. Exemplar scoring identifies genetically separable phenotypes of lithium responsive bipolar disorder. Translational Psychiatry. 11: 36. PMID 33431852 DOI: 10.1038/s41398-020-01148-y |
0.654 |
|
| 2021 |
Mufti K, Yu E, Rudakou U, Krohn L, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, ... ... Rouleau GA, et al. Novel Associations of and with Rapid Eye Movement Sleep Behavior Disorder. Neurology. PMID 33397775 DOI: 10.1212/WNL.0000000000011464 |
0.594 |
|
| 2020 |
Bakker MK, van der Spek RAA, van Rheenen W, Morel S, Bourcier R, Hostettler IC, Alg VS, van Eijk KR, Koido M, Akiyama M, Terao C, Matsuda K, Walters RG, Lin K, Li L, ... ... Rouleau GA, et al. Author Correction: Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors. Nature Genetics. PMID 33353957 DOI: 10.1038/s41588-020-00760-4 |
0.603 |
|
| 2020 |
Diez-Fairen M, Houle G, Ortega-Cubero S, Bandres-Ciga S, Alvarez I, Carcel M, Ibañez L, Fernandez MV, Budde JP, Trotta JR, Tonda R, Chong JX, Bamshad MJ, Nickerson DA, ... ... Rouleau GA, et al. Exome-wide rare variant analysis in familial essential tremor. Parkinsonism & Related Disorders. 82: 109-116. PMID 33279834 DOI: 10.1016/j.parkreldis.2020.11.021 |
0.712 |
|
| 2020 |
Bakker MK, van der Spek RAA, van Rheenen W, Morel S, Bourcier R, Hostettler IC, Alg VS, van Eijk KR, Koido M, Akiyama M, Terao C, Matsuda K, Walters RG, Lin K, Li L, ... ... Rouleau GA, et al. Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors. Nature Genetics. PMID 33199917 DOI: 10.1038/s41588-020-00725-7 |
0.601 |
|
| 2020 |
Gauquelin L, Hartley T, Tarnopolsky M, Dyment DA, Brais B, Geraghty MT, Tétreault M, Ahmed S, Rojas S, Choquet K, Majewski J, Bernier F, Innes AM, Rouleau G, Suchowersky O, et al. Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy. Movement Disorders Clinical Practice. 7: 940-949. PMID 33163565 DOI: 10.1002/Mdc3.13086 |
0.725 |
|
| 2020 |
Akçimen F, Ross JP, Liao C, Spiegelman D, Dion PA, Rouleau GA. Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 33159825 DOI: 10.1002/mds.28341 |
0.795 |
|
| 2020 |
Liao C, Akçimen F, Diez-Fairen M, Houle G, Ross JP, Schmilovich Z, Spiegelman D, Vuokila V, Catoire H, Meijer IA, Pastor P, Rajput A, Dion PA, Rouleau GA. Assessing the NOTCH2NLC GGC expansion in European patients with essential tremor. Brain : a Journal of Neurology. PMID 33146671 DOI: 10.1093/brain/awaa291 |
0.766 |
|
| 2020 |
Mufti K, Rudakou U, Yu E, Krohn L, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, ... ... Rouleau GA, et al. Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 33001463 DOI: 10.1002/mds.28318 |
0.59 |
|
| 2020 |
Liao C, Sarayloo F, Vuokila V, Rochefort D, Akçimen F, Diamond S, Houle G, Laporte AD, Spiegelman D, He Q, Catoire H, Dion PA, Rouleau GA. Transcriptomic Changes Resulting From Overexpression Identify Pathways Potentially Relevant to Essential Tremor. Frontiers in Genetics. 11: 813. PMID 32849812 DOI: 10.3389/Fgene.2020.00813 |
0.807 |
|
| 2020 |
Iftimovici A, Kebir O, He Q, Jay TM, Rouleau GA, Krebs MO, Chaumette B. Stress, Cortisol and NR3C1 in At-Risk Individuals for Psychosis: A Mendelian Randomization Study. Frontiers in Psychiatry. 11: 680. PMID 32754072 DOI: 10.3389/Fpsyt.2020.00680 |
0.301 |
|
| 2020 |
Course MM, Gudsnuk K, Smukowski SN, Winston K, Desai N, Ross JP, Sulovari A, Bourassa CV, Spiegelman D, Couthouis J, Yu CE, Tsuang DW, Jayadev S, Kay MA, Gitler AD, ... ... Rouleau GA, et al. Evolution of a Human-Specific Tandem Repeat Associated with ALS. American Journal of Human Genetics. PMID 32750315 DOI: 10.1016/J.Ajhg.2020.07.004 |
0.675 |
|
| 2020 |
Bis-Brewer DM, Gan-Or Z, Sleiman P, Hakonarson H, Fazal S, Courel S, Cintra V, Tao F, Estiar MA, Tarnopolsky M, Boycott KM, Yoon G, Suchowersky O, Dupré N, ... ... Rouleau G, et al. Assessing non-Mendelian inheritance in inherited axonopathies. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32741968 DOI: 10.1038/S41436-020-0924-0 |
0.396 |
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| 2020 |
Akçimen F, Sarayloo F, Liao C, Ross JP, Oliveira RB, Dion PA, Rouleau GA. Transcriptome-wide association study for restless legs syndrome identifies new susceptibility genes. Communications Biology. 3: 373. PMID 32651461 DOI: 10.1038/s42003-020-1105-z |
0.815 |
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| 2020 |
Chaumette B, Sengupta SM, Lepage M, Malla A, Iyer SN, Kebir O, Dion PA, Rouleau GA, Krebs MO, Shah JL, Joober R. A polymorphism in the glutamate metabotropic receptor 7 is associated with cognitive deficits in the early phases of psychosis. Schizophrenia Research. PMID 32624350 DOI: 10.1016/J.Schres.2020.06.019 |
0.325 |
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| 2020 |
Krohn L, Ruskey JA, Rudakou U, Leveille E, Asayesh F, Hu MTM, Arnulf I, Dauvilliers Y, Högl B, Stefani A, Monaca CC, Beatriz A, Plazzi G, Antelmi E, Ferini-Strambi L, ... ... Rouleau GA, et al. variants in REM sleep behavior disorder: a multicenter study. Neurology. PMID 32591474 DOI: 10.1212/Wnl.0000000000010042 |
0.613 |
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| 2020 |
Sarayloo F, Spiegelman D, Rochefort D, Akçimen F, De Barros Oliveira R, Dion PA, Rouleau GA. SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome. European Journal of Human Genetics : Ejhg. PMID 32572201 DOI: 10.1038/S41431-020-0670-4 |
0.805 |
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| 2020 |
Ross JP, Dion PA, Rouleau GA. Exome sequencing in genetic disease: recent advances and considerations. F1000research. 9. PMID 32431803 DOI: 10.12688/F1000Research.19444.1 |
0.665 |
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| 2020 |
Rudakou U, Futhey NC, Krohn L, Ruskey JA, Heilbron K, Cannon P, Alam A, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Toffoli M, ... ... Rouleau GA, et al. SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder. Neurobiology of Aging. PMID 32409254 DOI: 10.1016/J.Neurobiolaging.2020.04.005 |
0.65 |
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| 2020 |
Ross JP, Leblond CS, Laurent SB, Spiegelman D, Dionne-Laporte A, Camu W, Dupré N, Dion PA, Rouleau GA. Oligogenicity, C9orf72 expansion, and variant severity in ALS. Neurogenetics. PMID 32385536 DOI: 10.1007/S10048-020-00612-7 |
0.684 |
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| 2020 |
Soubannier V, Maussion G, Chaineau M, Sigutova V, Rouleau G, Durcan TM, Stifani S. Characterization of human iPSC-derived astrocytes with potential for disease modeling and drug discovery. Neuroscience Letters. 135028. PMID 32380146 DOI: 10.1016/J.Neulet.2020.135028 |
0.663 |
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| 2020 |
Ouled Amar Bencheikh B, Senkevich K, Rudakou U, Yu E, Mufti K, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Espay AJ, Dupré N, ... ... Rouleau GA, et al. Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease. Neurobiology of Aging. PMID 32371106 DOI: 10.1016/J.Neurobiolaging.2020.03.021 |
0.328 |
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| 2020 |
Stern S, Sarkar A, Galor D, Stern T, Mei A, Stern Y, Mendes APD, Randolph-Moore L, Rouleau G, Bang AG, Santos R, Alda M, Marchetto MC, Gage FH. A Physiological Instability Displayed in Hippocampal Neurons Derived From Lithium-Nonresponsive Bipolar Disorder Patients. Biological Psychiatry. PMID 32278494 DOI: 10.1016/J.Biopsych.2020.01.020 |
0.591 |
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| 2020 |
Liao C, Sarayloo F, Rochefort D, Houle G, Akçimen F, He Q, Laporte AD, Spiegelman D, Poewe W, Berg D, Müller S, Hopfner F, Deuschl G, Kuhlenbäeumer G, Rajput A, ... ... Rouleau GA, et al. Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 32249994 DOI: 10.1002/Mds.28031 |
0.801 |
|
| 2020 |
Beaudin M, Sellami L, Martel C, Touzel-Deschênes L, Houle G, Martineau L, Lacroix K, Lavallée A, Chrestian N, Rouleau GA, Gros-Louis F, Laforce R, Dupré N. Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34. Neurology. Genetics. 6: e403. PMID 32211516 DOI: 10.1212/Nxg.0000000000000403 |
0.655 |
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| 2020 |
Akçimen F, Martins S, Liao C, Bourassa CV, Catoire H, Nicholson GA, Riess O, Raposo M, França MC, Vasconcelos J, Lima M, Lopes-Cendes I, Saraiva-Pereira ML, Jardim LB, Sequeiros J, ... ... Rouleau GA, et al. Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease. Aging. 12. PMID 32205469 DOI: 10.18632/aging.102825 |
0.826 |
|
| 2020 |
Amare AT, Schubert KO, Hou L, Clark SR, Papiol S, Cearns M, 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 major depression with response to lithium in patients with bipolar disorder. Molecular Psychiatry. PMID 32203155 DOI: 10.1038/S41380-020-0689-5 |
0.79 |
|
| 2020 |
Rudakou U, Ruskey JA, Krohn L, Laurent SB, Spiegelman D, Greenbaum L, Yahalom G, Desautels A, Montplaisir JY, Fahn S, Waters CH, Levy O, Kehoe CM, Narayan S, Dauvilliers Y, ... ... Rouleau GA, et al. Analysis of common and rare variants in late-onset Parkinson disease. Neurology. Genetics. 6: 385. PMID 32042909 DOI: 10.1212/Nxg.0000000000000385 |
0.617 |
|
| 2020 |
Krohn L, Wu RY, Heilbron K, Ruskey JA, Laurent SB, Blauwendraat C, Alam A, Arnulf I, Hu MTM, Dauvilliers Y, Högl B, Toft M, Bjørnarå KA, Stefani A, Holzknecht E, ... ... Rouleau GA, et al. Fine-mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies. Annals of Neurology. PMID 31976583 DOI: 10.1002/Ana.25687 |
0.618 |
|
| 2020 |
Estiar MA, Leveille E, Spiegelman D, Dupre N, Trempe JF, Rouleau GA, Gan-Or Z. Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype. Molecular Genetics & Genomic Medicine. e1052. PMID 31944623 DOI: 10.1002/Mgg3.1052 |
0.388 |
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| 2019 |
Gan-Or Z, Rao T, Leveille E, Degroot C, Chouinard S, Cicchetti F, Dagher A, Das S, Desautels A, Drouin-Ouellet J, Durcan T, Gagnon JF, Genge A, Karamchandani J, Lafontaine AL, ... ... Rouleau GA, et al. The Quebec Parkinson Network: A Researcher-Patient Matching Platform and Multimodal Biorepository. Journal of Parkinson's Disease. PMID 31868683 DOI: 10.3233/Jpd-191775 |
0.621 |
|
| 2019 |
Akçimen F, Ross JP, Bourassa CV, Liao C, Rochefort D, Gama MTD, Dicaire MJ, Barsottini OG, Brais B, Pedroso JL, Dion PA, Rouleau GA. Investigation of the Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations. Frontiers in Genetics. 10: 1219. PMID 31824583 DOI: 10.3389/Fgene.2019.01219 |
0.803 |
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| 2019 |
Stern S, Sarkar A, Stern T, Mei A, Mendes APD, Stern Y, Goldberg G, Galor D, Nguyen T, Randolph-Moore L, Kim Y, Rouleau G, Bang A, Alda M, Santos R, et al. Mechanisms Underlying the Hyperexcitability of CA3 and Dentate Gyrus Hippocampal Neurons Derived From Patients With Bipolar Disorder. Biological Psychiatry. PMID 31732108 DOI: 10.1016/J.Biopsych.2019.09.018 |
0.613 |
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| 2019 |
Sarayloo F, Dionne-Laporte A, Catoire H, Rochefort D, Houle G, Ross JP, Akçimen F, Barros Oliveira R, Turecki G, Dion PA, Rouleau GA. Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression. Plos One. 14: e0225186. PMID 31725784 DOI: 10.1371/Journal.Pone.0225186 |
0.802 |
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| 2019 |
Akçimen F, Ross JP, Sarayloo F, Liao C, De Barros Oliveira R, Ruskey JA, Bourassa CV, Dion PA, Xiong L, Gan-Or Z, Rouleau GA. Genetic and epidemiological characterization of restless legs syndrome in Québec. Sleep. PMID 31665514 DOI: 10.1093/Sleep/Zsz265 |
0.807 |
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| 2019 |
Krohn L, Öztürk TN, Vanderperre B, Ouled Amar Bencheikh B, Ruskey JA, Laurent SB, Spiegelman D, Postuma RB, Arnulf I, Hu MTM, Dauvilliers Y, Högl B, Stefani A, Monaca CC, Plazzi G, ... ... Rouleau GA, et al. Genetic, structural and functional evidence link TMEM175 to synucleinopathies. Annals of Neurology. PMID 31658403 DOI: 10.1002/Ana.25629 |
0.653 |
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| 2019 |
Accogli A, St-Onge J, Addour-Boudrahem N, Lafond-Lapalme J, Laporte AD, Rouleau GA, Rivière JB, Srour M. Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia. Journal of Child Neurology. 883073819878917. PMID 31617442 DOI: 10.1177/0883073819878917 |
0.401 |
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| 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 |
0.301 |
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| 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 |
0.809 |
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| 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 |
0.822 |
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| 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 |
0.381 |
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| 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 |
0.644 |
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| 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 |
0.363 |
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| 2019 |
McNeil-Gauthier AL, Brais B, Rouleau G, Anoja N, Ducharme S. Successful treatment of psychosis in a patient with Kufor-Rakeb syndrome with low dose aripiprazole: a case report. Neurocase. 1-5. PMID 31232173 DOI: 10.1080/13554794.2019.1625928 |
0.54 |
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| 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 |
0.665 |
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| 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 |
0.687 |
|
| 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 |
0.313 |
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| 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 |
0.805 |
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| 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 |
0.633 |
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| 2019 |
Callaghan DB, Rogic S, Tan PPC, Calli K, Qiao Y, Baldwin R, Jacobson M, Belmadani M, Holmes N, Yu C, Li Y, Li Y, Kurtzke FE, Kuzeljevic B, Yu A, ... ... Rouleau G, et al. Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort. Clinical Genetics. PMID 31038196 DOI: 10.1111/Cge.13556 |
0.429 |
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| 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 |
0.722 |
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| 2019 |
Gelfman S, Dugger SA, Araujo Martins Moreno C, Ren Z, Wolock CJ, Shneider N, Phatnani H, Cirulli ET, Lasseigne BN, Harris T, Maniatis T, Rouleau G, Brown RH, Gitler AD, Myers RM, et al. A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS. Genome Research. PMID 30940688 DOI: 10.1101/Gr.243592.118 |
0.368 |
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| 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 |
0.425 |
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| 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 |
0.39 |
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| 2019 |
Vosberg DE, Beaulé V, Torres-Berrío A, Cooke D, Chalupa A, Jaworska N, Cox SM, Larcher K, Zhang Y, Allard D, Durand F, Dagher A, Benkelfat C, Srour M, Tampieri D, ... ... Rouleau G, et al. Neural Function in DCC Mutation Carriers with and without Mirror Movements. Annals of Neurology. PMID 30666715 DOI: 10.1002/Ana.25418 |
0.307 |
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| 2019 |
He Q, Kebir O, Houle G, Liao C, Dion PA, Rouleau GA, Krebs M, Chaumette B. T80SCHIZOPHRENIA POLYGENIC RISK SCORE CORRELATES WITH DECREASED COGNITIVE FUNCTIONS IN ULTRA-HIGH-RISK INDIVIDUALS FOR PSYCHOSIS European Neuropsychopharmacology. 29: S258-S259. DOI: 10.1016/J.Euroneuro.2019.08.279 |
0.749 |
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| 2019 |
Chaumette B, Ferrafiat V, Ambalavanan A, Goldenberg A, Dionne-Laporte A, Spiegelman D, Dion P, Gerardin P, Laurent C, Cohen D, Rapoport J, Rouleau G. 51IDENTIFICATION OF NEW GENES ASSOCIATED WITH CHILDHOOD-ONSET SCHIZOPHRENIA: ATP1A3 AND THE FXYD GENE FAMILY European Neuropsychopharmacology. 29: S1096. DOI: 10.1016/J.Euroneuro.2018.08.058 |
0.34 |
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| 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 |
0.74 |
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| 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 |
0.324 |
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| 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 |
0.304 |
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| 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 |
0.308 |
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| 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 |
0.648 |
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| 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 |
0.764 |
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| 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 |
0.729 |
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| 2018 |
El Gewely M, Welman M, Xiong L, Yin S, Catoire H, Rouleau G, Montplaisir JY, Desautels A, Warby SC. Reassessing GWAS findings for the shared genetic basis of insomnia and restless legs syndrome. Sleep. PMID 30215811 DOI: 10.1093/Sleep/Zsy164 |
0.678 |
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| 2018 |
Monlong J, Cossette P, Meloche C, Rouleau G, Girard SL, Bourque G. Human copy number variants are enriched in regions of low mappability. Nucleic Acids Research. 46: 7236-7249. PMID 30137632 DOI: 10.1093/Nar/Gky538 |
0.349 |
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| 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 |
0.82 |
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| 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 |
0.308 |
|
| 2018 |
Abu-Baker A, Parker A, Ramalingam S, Laganiere J, Brais B, Neri C, Dion P, Rouleau G. Valproic acid is protective in cellular and worm models of oculopharyngeal muscular dystrophy. Neurology. PMID 30006409 DOI: 10.1212/Wnl.0000000000005942 |
0.481 |
|
| 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 |
0.797 |
|
| 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 |
0.795 |
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| 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 |
0.768 |
|
| 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 |
0.387 |
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| 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 |
0.638 |
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| 2018 |
Soler J, Fañanás L, Parellada M, Krebs MO, Rouleau GA, Fatjó-Vilas M. Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review. Journal of Psychiatry & Neuroscience : Jpn. 43: 170066. PMID 29808791 DOI: 10.1503/Jpn.170066 |
0.402 |
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| 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 |
0.333 |
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| 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 |
0.782 |
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| 2018 |
Vosberg DE, Zhang Y, Menegaux A, Chalupa A, Manitt C, Zehntner S, Eng C, DeDuck K, Allard D, Durand F, Dagher A, Benkelfat C, Srour M, Joober R, Lepore F, ... Rouleau G, et al. Mesocorticolimbic Connectivity and Volumetric Alterations in Mutation Carriers. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 29712788 DOI: 10.1523/Jneurosci.3251-17.2018 |
0.326 |
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| 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 |
0.304 |
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| 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 |
0.652 |
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| 2018 |
Monlong J, Girard SL, Meloche C, Cadieux-Dion M, Andrade DM, Lafreniere RG, Gravel M, Spiegelman D, Dionne-Laporte A, Boelman C, Hamdan FF, Michaud JL, Rouleau G, Minassian BA, Bourque G, et al. Global characterization of copy number variants in epilepsy patients from whole genome sequencing. Plos Genetics. 14: e1007285. PMID 29649218 DOI: 10.1371/Journal.Pgen.1007285 |
0.344 |
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| 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 |
0.303 |
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| 2018 |
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, ... ... Rouleau GA, et al. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron. 97: 1268-1283.e6. PMID 29566793 DOI: 10.1016/J.Neuron.2018.02.027 |
0.393 |
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| 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 |
0.788 |
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| 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 |
0.37 |
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| 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 |
0.337 |
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| 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 |
0.349 |
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| 2018 |
Zhou S, Dion PA, Rouleau GA. Genetics of Intracranial Aneurysms. Stroke. PMID 29437983 DOI: 10.1161/Strokeaha.117.018152 |
0.584 |
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| 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 |
0.353 |
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| 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 |
0.618 |
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| 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 |
0.683 |
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| 2018 |
El Gewely M, Melanie W, Lan X, Sophie Y, Rouleau G, Montplaisir J, Desautels A, Warby S. 0690 The Association Of Meis1 Gene In Restless Leg Syndrome And Rls Related Phenotypes But Not With Chronic Insomnia Disorder Sleep. 41: A255-A256. DOI: 10.1093/Sleep/Zsy061.689 |
0.668 |
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| 2018 |
Ferrafiat V, Chaumette B, Ambalavanan A, Gerardin P, Laurent C, Cohen D, Rapoport JL, Rouleau G. 3.68 Missense Variants in the ATP1A3 and FXYD Gene Family are Associated With Childhood-Onset Schizophrenia Journal of the American Academy of Child & Adolescent Psychiatry. 57: S204. DOI: 10.1016/J.Jaac.2018.09.226 |
0.342 |
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| 2017 |
Khoury S, Segal J, Parisien M, Noreau A, Dion P, Benavides R, Giguère JF, Denis R, Belfer I, Diatchenko L, Rouleau GA, Lavigne GJ. Post-concussion symptoms and chronic pain after mild traumatic brain injury are modulated by multiple locus effect in the gene through the expression of antisense: A pilot prospective control study. Canadian Journal of Pain = Revue Canadienne De La Douleur. 1: 112-126. PMID 35005347 DOI: 10.1080/24740527.2017.1362942 |
0.664 |
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| 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 |
0.688 |
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| 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: 10.1097/01.Ogx.0000550387.91867.88 |
0.403 |
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| 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 |
0.715 |
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| 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 |
0.787 |
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| 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 |
0.787 |
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| 2017 |
Cruceanu C, Schmouth JF, Torres-Platas SG, Lopez JP, Ambalavanan A, Darcq E, Gross F, Breton B, Spiegelman D, Rochefort D, Hince P, Petite JM, Gauthier J, Lafrenière RG, Dion PA, ... ... Rouleau GA, et al. Rare susceptibility variants for bipolar disorder suggest a role for G protein-coupled receptors. Molecular Psychiatry. PMID 29158579 DOI: 10.1038/mp.2017.223 |
0.8 |
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| 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 |
0.795 |
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| 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 |
0.393 |
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| 2017 |
Marsh AP, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, et al. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum and developmental split brain syndrome. Human Mutation. PMID 29068161 DOI: 10.1002/Humu.23361 |
0.365 |
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| 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 |
0.372 |
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| 2017 |
Méneret A, Franz EA, Trouillard O, Oliver TC, Zagar Y, Robertson SP, Welniarz Q, Gardner RJM, Gallea C, Srour M, Depienne C, Jasoni CL, Dubacq C, Riant F, Lamy JC, ... ... Rouleau GA, et al. Mutations in the netrin-1 gene cause congenital mirror movements. The Journal of Clinical Investigation. PMID 28945198 DOI: 10.1172/Jci95442 |
0.363 |
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| 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 |
0.307 |
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| 2017 |
Seixas AI, Loureiro JR, Costa C, Ordóñez-Ugalde A, Marcelino H, Oliveira CL, Loureiro JL, Dhingra A, Brandão E, Cruz VT, Timóteo A, Quintáns B, Rouleau GA, Rizzu P, Carracedo Á, et al. A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. American Journal of Human Genetics. 101: 87-103. PMID 28686858 DOI: 10.1016/J.Ajhg.2017.06.007 |
0.638 |
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| 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 |
0.324 |
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| 2017 |
Huang AY, Yu D, Davis LK, Sul JH, Tsetsos F, Ramensky V, Zelaya I, Ramos EM, Osiecki L, Chen JA, McGrath LM, Illmann C, Sandor P, Barr CL, Grados M, ... ... Rouleau G, et al. Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome. Neuron. 94: 1101-1111.e7. PMID 28641109 DOI: 10.1016/J.Neuron.2017.06.010 |
0.381 |
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| 2017 |
Witt SH, Streit F, Jungkunz M, Frank J, Awasthi S, Reinbold CS, Treutlein J, Degenhardt F, Forstner AJ, Heilmann-Heimbach S, Dietl L, Schwarze CE, Schendel D, Strohmaier J, Abdellaoui A, ... ... Rouleau GA, et al. Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia. Translational Psychiatry. 7: e1155. PMID 28632202 DOI: 10.1038/Tp.2017.115 |
0.803 |
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| 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 |
0.604 |
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| 2017 |
Tobe BTD, Crain AM, Winquist AM, Calabrese B, Makihara H, Zhao WN, Lalonde J, Nakamura H, Konopaske G, Sidor M, Pernia CD, Yamashita N, Wada M, Inoue Y, Nakamura F, ... ... Rouleau GA, et al. Probing the lithium-response pathway in hiPSCs implicates the phosphoregulatory set-point for a cytoskeletal modulator in bipolar pathogenesis. Proceedings of the National Academy of Sciences of the United States of America. PMID 28500272 DOI: 10.1073/Pnas.1700111114 |
0.593 |
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| 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 |
0.397 |
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| 2017 |
Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, ... ... Rouleau G, et al. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nature Genetics. PMID 28250454 DOI: 10.1038/Ng.3794 |
0.336 |
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| 2017 |
Stern S, Santos R, Marchetto MC, Mendes AP, Rouleau GA, Biesmans S, Wang QW, Yao J, Charnay P, Bang AG, Alda M, Gage FH. Neurons derived from patients with bipolar disorder divide into intrinsically different sub-populations of neurons, predicting the patients' responsiveness to lithium. Molecular Psychiatry. PMID 28242870 DOI: 10.1038/Mp.2016.260 |
0.612 |
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| 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 |
0.807 |
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| 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 |
0.666 |
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| 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 |
0.689 |
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| 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 |
0.306 |
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| 2017 |
Alenezi WM, Revil T, Badescu D, Arcand SL, Rouleau G, Ragoussis I, Tonin PN. Abstract A25: Investigating the co-occurrence of potentially pathogenic DNA repair pathways alleles in BRCA1 or BRCA2 mutation carrier women with ovarian cancer. Molecular Cancer Research. 15. DOI: 10.1158/1557-3125.Dnarepair16-A25 |
0.315 |
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| 2017 |
Khoury S, Segal J, Parisien M, Noreau A, Dion P, Benavides R, Giguère J, Denis R, Belfer I, Diatchenko L, Rouleau GA, Lavigne GJ. Post-concussion symptoms and chronic pain after mild traumatic brain injury are modulated by multiple locus effect in theBDNFgene through the expression of antisense: A pilot prospective control study Canadian Journal of Pain. 1: 112-126. DOI: 10.1080/24740527.2017.1362942 |
0.443 |
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| 2017 |
He Q, Hajji I, Jimenez D, Benbetka S, Johnson A, Dionne-Laporte A, Spiegelman D, Joober R, Dubé M, DeLisi L, Rouleau GA, Xiong L. Whole Exome Sequencing of Affected Individuals From Large Consanguineous Pedigrees With Psychotic/Affective Disorders From Pakistan European Neuropsychopharmacology. 27. DOI: 10.1016/J.Euroneuro.2016.09.438 |
0.449 |
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| 2017 |
Gage F, Stern S, Santos R, Carol Marchetto M, Diniz Mendes A, Rouleau G, Biesmans S, Wang Q, Yao J, Charnay P, Bang A, Alda M. 715. Neurons from Bipolar Disorder Patients Are Characterized by Intrinsically Different Sub Populations of Neurons Biological Psychiatry. 81: S290. DOI: 10.1016/J.Biopsych.2017.02.782 |
0.584 |
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| 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 |
0.758 |
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| 2016 |
Ohta Y, Soucy G, Phaneuf D, Audet JN, Gros-Louis F, Rouleau GA, Blasco H, Corcia P, Andersen PM, Nordin F, Yamashita T, Abe K, Julien JP. Sex-dependent effects of chromogranin B P413L allelic variant as disease modifier in amyotrophic lateral sclerosis. Human Molecular Genetics. 25: 4771-4786. PMID 28175304 DOI: 10.1093/Hmg/Ddw304 |
0.331 |
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| 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 |
0.42 |
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| 2016 |
Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL, Van Damme P, Daoud H, Del Mar Amador M, Fogh I, Forzan M, ... ... Rouleau G, et al. ATXN2 trinucleotide repeat length correlates with risk of ALS. Neurobiology of Aging. PMID 28017481 DOI: 10.1016/J.Neurobiolaging.2016.11.010 |
0.324 |
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| 2016 |
Grad LI, Rouleau GA, Ravits J, Cashman NR. Clinical Spectrum of Amyotrophic Lateral Sclerosis (ALS). Cold Spring Harbor Perspectives in Medicine. PMID 28003278 DOI: 10.1101/Cshperspect.A024117 |
0.364 |
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| 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 |
0.314 |
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| 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 |
0.769 |
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| 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 |
0.366 |
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| 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 |
0.664 |
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| 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 |
0.402 |
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| 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 |
0.571 |
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| 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 |
0.305 |
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| 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 |
0.672 |
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| 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 |
0.666 |
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| 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 |
0.354 |
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| 2016 |
Manousaki D, Kent JW, Haack K, Zhou S, Xie P, Greenwood CM, Brassard P, Newman DE, Cole S, Umans JG, Rouleau G, Comuzzie AG, Richards JB. Toward Precision Medicine: TBC1D4 Disruption Is Common Among the Inuit and Leads to Underdiagnosis of Type 2 Diabetes. Diabetes Care. PMID 27561922 DOI: 10.2337/Dc16-0769 |
0.589 |
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| 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 |
0.804 |
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| 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 |
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| 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 |
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| 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 |
0.67 |
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| 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 |
0.375 |
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| 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 |
0.636 |
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| 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 |
0.344 |
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| 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 |
0.393 |
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| 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 |
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| 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 |
0.378 |
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| 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 |
0.315 |
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| 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 |
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| 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 |
0.758 |
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| 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 |
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| 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 |
0.34 |
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| 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 |
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| 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 |
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| 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 |
0.778 |
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| 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 |
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| 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 |
0.673 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
0.77 |
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| 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 |
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| 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 |
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| 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 |
0.619 |
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| 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 |
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| 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 |
0.399 |
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| 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 |
0.346 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
0.658 |
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| 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 |
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| 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 |
0.619 |
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| 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 |
0.392 |
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| 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 |
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| 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 |
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| 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 |
0.547 |
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| 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 |
0.34 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
0.314 |
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| 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 |
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| 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 |
0.78 |
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| 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 |
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| 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 |
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| 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 |
0.405 |
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| 2015 |
Fu L, Zhou S, Rouleau G, Silviu-Dan F. Clinical and Genetic Investigation in a Family Segregating Different Types of Angioedema, Including a Case of Hereditary Angioedema Type-III Journal of Allergy and Clinical Immunology. 135: AB197. DOI: 10.1016/J.Jaci.2014.12.1579 |
0.625 |
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| 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 |
0.324 |
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| 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 |
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| 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 |
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| 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 |
0.63 |
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| 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 |
0.418 |
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| 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 |
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| 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 |
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| 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 |
0.392 |
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| 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 |
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| 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 |
0.373 |
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| 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 |
0.431 |
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| 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 |
0.562 |
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| 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 |
0.387 |
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| 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 |
0.382 |
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| 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 |
0.628 |
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| 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 |
0.331 |
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| 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 |
0.391 |
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| 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 |
0.368 |
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| 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 |
0.405 |
|
| 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 |
0.441 |
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| 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 |
0.391 |
|
| 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 |
0.383 |
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| 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 |
0.708 |
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| 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 |
0.408 |
|
| 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 |
0.378 |
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| 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 |
0.76 |
|
| 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 |
0.405 |
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| 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 |
0.359 |
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| 2014 |
Benedet A, Lemay P, Mathotaarachchi SS, Mohades S, Zimmer ER, Dionne-Laporte A, Picard C, Shin M, Wang S, Parent M, Schilling LP, Carbonnell F, Beaudry T, Fonov V, Gauthier S, ... Rouleau G, et al. Epistasis Analyses Indicate Association Between Cerebral Amyloid Deposition And Genes Involved In Immuno-Response Alzheimers & Dementia. 10: 321. DOI: 10.1016/J.Jalz.2014.05.183 |
0.307 |
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| 2014 |
Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Gregorio ED, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, ... ... Rouleau G, et al. Erratum to Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression. [34, 8, 1160-1171, 10.1002/humu.22348] Human Mutation. 35. DOI: 10.1002/Humu.22466 |
0.323 |
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| 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 |
0.333 |
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| 2013 |
Thibeault M, Lemay M, Chouinard S, Lespérance P, Rouleau GA, Richer F. Response Inhibition in Tic Disorders: Waiting to Respond Is Harder When ADHD Is Present. Journal of Attention Disorders. PMID 24305059 DOI: 10.1177/1087054713513638 |
0.327 |
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| 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 |
0.675 |
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| 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 = Gã©Nome / Conseil National De Recherches Canada. 56: 634-40. PMID 24237345 DOI: 10.1139/gen-2013-0081 |
0.803 |
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| 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 |
0.433 |
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| 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 |
0.692 |
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| 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 |
0.332 |
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| 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 |
0.723 |
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| 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 |
0.533 |
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| 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 |
0.356 |
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| 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 |
0.311 |
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| 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 |
0.368 |
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| 2013 |
Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, ... ... Rouleau G, et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics. 45: 984-94. PMID 23933821 DOI: 10.1038/Ng.2711 |
0.368 |
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| 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 |
0.667 |
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| 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 |
0.672 |
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| 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 |
0.401 |
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| 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 |
0.373 |
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| 2013 |
Al-Chalabi A, Kwak S, Mehler M, Rouleau G, Siddique T, Strong M, Leigh PN. Genetic and epigenetic studies of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 14: 44-52. PMID 23678879 DOI: 10.3109/21678421.2013.778571 |
0.353 |
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| 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 |
0.396 |
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| 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 |
0.367 |
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| 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 |
0.578 |
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| 2013 |
Faraco J, Lin L, Kornum BR, Kenny EE, Trynka G, Einen M, Rico TJ, Lichtner P, Dauvilliers Y, Arnulf I, Lecendreux M, Javidi S, Geisler P, Mayer G, Pizza F, ... ... Rouleau G, et al. ImmunoChip study implicates antigen presentation to T cells in narcolepsy. Plos Genetics. 9: e1003270. PMID 23459209 DOI: 10.1371/Journal.Pgen.1003270 |
0.641 |
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| 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 |
0.36 |
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| 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 |
0.399 |
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| 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 |
0.353 |
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| 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 |
0.304 |
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| 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 |
0.424 |
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| 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 |
0.32 |
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| 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 |
0.809 |
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| 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 |
0.37 |
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| 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 |
0.363 |
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| 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 |
0.35 |
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| 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 |
0.315 |
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| 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 |
0.405 |
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| 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 |
0.735 |
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| 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 |
0.805 |
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| 2013 |
Krebs M, Kebir O, Rouleau G. S.24.01 Rare mutations in N-methyl-D-aspartate glutamate receptors in schizophrenia and autism spectrum disorders European Neuropsychopharmacology. 23: S146. DOI: 10.1016/S0924-977X(13)70210-4 |
0.3 |
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| 2013 |
Rouleau G. Genetics and underlying mechanisms associated with hereditary sensory and autonomic neuropathies Journal of the Neurological Sciences. 333: e528. DOI: 10.1016/J.Jns.2013.07.1860 |
0.327 |
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| 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 |
0.428 |
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| 2012 |
Parmalee N, Mirzozoda K, Kisselev S, Merner N, Dion P, Rouleau G, Clark L, Louis ED. Genetic analysis of the FUS/TLS gene in essential tremor. European Journal of Neurology. 20: 534-539. PMID 23114103 DOI: 10.1111/Ene.12023 |
0.415 |
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| 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 |
0.641 |
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| 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 |
0.378 |
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| 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 |
0.394 |
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| 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 |
0.423 |
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| 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 |
0.722 |
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| 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 |
0.402 |
|
| 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 |
0.718 |
|
| 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 |
0.687 |
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| 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 |
0.359 |
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| 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 |
0.372 |
|
| 2012 |
Mackey J, Brown RD, Moomaw CJ, Sauerbeck L, Hornung R, Gandhi D, Woo D, Kleindorfer D, Flaherty ML, Meissner I, Anderson C, Connolly ES, Rouleau G, Kallmes DF, Torner J, et al. Unruptured intracranial aneurysms in the Familial Intracranial Aneurysm and International Study of Unruptured Intracranial Aneurysms cohorts: Differences in multiplicity and location - Clinical article Journal of Neurosurgery. 117: 60-64. PMID 22540404 DOI: 10.3171/2012.4.Jns111822 |
0.313 |
|
| 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 |
0.722 |
|
| 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 |
0.313 |
|
| 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 |
0.365 |
|
| 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 |
0.338 |
|
| 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 |
0.3 |
|
| 2012 |
Grant A, Fathalli F, Rouleau G, Joober R, Flores C. Association between schizophrenia and genetic variation in DCC: a case-control study. Schizophrenia Research. 137: 26-31. PMID 22418395 DOI: 10.1016/J.Schres.2012.02.023 |
0.345 |
|
| 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 DOI: 10.1017/S0317167100012774 |
0.527 |
|
| 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 |
0.791 |
|
| 2012 |
Vaccaro A, Tauffenberger A, Aggad D, Rouleau G, Drapeau P, Parker JA. Mutant TDP-43 and FUS cause age-dependent paralysis and neurodegeneration in C. elegans. Plos One. 7: e31321. PMID 22363618 DOI: 10.1371/Journal.Pone.0031321 |
0.307 |
|
| 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 |
0.717 |
|
| 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 |
0.325 |
|
| 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 DOI: 10.1017/S0317167100013263 |
0.426 |
|
| 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 DOI: 10.1017/S0317167100013135 |
0.658 |
|
| 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 |
0.337 |
|
| 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 |
0.777 |
|
| 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 |
0.807 |
|
| 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 |
0.334 |
|
| 2012 |
Dupre N, Valdmanis P, Stochmanski S, Belzil V, Dion P, Thiffault I, Brais B, Weston L, Saint-Amant L, Samuels M, Rouleau G. A Mutation in the RNF170 Gene Causes Autosomal Dominant Sensory Ataxia (P05.014) Neurology. 78: P05.014-P05.014. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.014 |
0.774 |
|
| 2012 |
Clark L, Mirzozoda K, Merner N, Dion P, Rouleau G, Louis E. Analysis of the FUS/TLS Gene in Essential Tremor (P04.049) Neurology. 78: P04.049-P04.049. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P04.049 |
0.312 |
|
| 2012 |
Lill C, Meissner E, Schjeide L, Schjeide B, Liebsch M, Roehr J, Rouleau G, Hardiman O, Traynor B, Van den Berg L, Al-Chalabi A, Bertram L. Comprehensive Research Synopsis and Systematic Meta-Analyses in ALS Genetics: The ALSGene Database (P01.095) Neurology. 78: P01.095-P01.095. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P01.095 |
0.306 |
|
| 2012 |
Scharf J, Yu D, Mathews C, Neale B, Stewart E, Fagerness J, Evans P, Gamazon E, Service S, Osiecki L, Illmann C, Cath D, King R, Dion Y, Sandor P, ... ... Rouleau G, et al. Genome-Wide Association Study of Gilles de la Tourette Syndrome (IN10-1.002) Neurology. 78: IN10-1.002-IN10-1.00. DOI: 10.1212/Wnl.78.1_Meetingabstracts.In10-1.002 |
0.372 |
|
| 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 |
0.392 |
|
| 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 |
0.331 |
|
| 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 |
0.336 |
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| 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 |
0.365 |
|
| 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 |
0.593 |
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| 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 |
0.301 |
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| 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 |
0.367 |
|
| 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 |
0.653 |
|
| 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 |
0.429 |
|
| 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 |
0.386 |
|
| 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 |
0.488 |
|
| 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 |
0.707 |
|
| 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 |
0.318 |
|
| 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 |
0.347 |
|
| 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 |
0.412 |
|
| 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 |
0.673 |
|
| 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 |
0.453 |
|
| 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.2011.03.011 |
0.38 |
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| 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 |
0.353 |
|
| 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 |
0.714 |
|
| 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 |
0.372 |
|
| 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 |
0.425 |
|
| 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 |
0.736 |
|
| 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 |
0.389 |
|
| 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 |
0.732 |
|
| 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 |
0.711 |
|
| 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 |
0.724 |
|
| 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 |
0.334 |
|
| 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 |
0.774 |
|
| 2011 |
Cruceanu C, Alda M, Rouleau G, Turecki G. Response to treatment in bipolar disorder. Current Opinion in Psychiatry. 24: 24-8. PMID 21088584 DOI: 10.1097/Yco.0B013E328341352C |
0.792 |
|
| 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 |
0.729 |
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| 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 |
0.314 |
|
| 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 |
0.353 |
|
| 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 |
0.389 |
|
| 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. Erratum: Common variants in P2RY11 are associated with narcolepsy Nature Genetics. 43: 1040-1040. DOI: 10.1038/Ng1011-1040B |
0.685 |
|
| 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 |
0.358 |
|
| 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 |
0.342 |
|
| 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 |
0.69 |
|
| 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 |
0.385 |
|
| 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 |
0.661 |
|
| 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 |
0.39 |
|
| 2010 |
Lopez de Lara C, Jaitovich-Groisman I, Cruceanu C, Mamdani F, Lebel V, Yerko V, Beck A, Young LT, Rouleau G, Grof P, Alda M, Turecki G. Implication of synapse-related genes in bipolar disorder by linkage and gene expression analyses. The International Journal of Neuropsychopharmacology / Official Scientific Journal of the Collegium Internationale Neuropsychopharmacologicum (Cinp). 13: 1397-410. PMID 20667171 DOI: 10.1017/S1461145710000714 |
0.819 |
|
| 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 |
0.4 |
|
| 2010 |
Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, Guillot-Noël L, Russaouen O, Bruneteau G, Pradat PF, Le Forestier N, Vandenberghe N, Danel-Brunaud V, Guy N, Thauvin-Robinet C, ... ... Rouleau G, et al. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. Journal of Medical Genetics. 47: 554-60. PMID 20577002 DOI: 10.1136/Jmg.2010.077180 |
0.356 |
|
| 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 |
0.357 |
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| 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 |
0.343 |
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| 2010 |
Felbecker A, Camu W, Valdmanis PN, Sperfeld AD, Waibel S, Steinbach P, Rouleau GA, Ludolph AC, Andersen PM. Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic? Journal of Neurology, Neurosurgery, and Psychiatry. 81: 572-7. PMID 20460594 DOI: 10.1136/Jnnp.2009.192310 |
0.37 |
|
| 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 |
0.688 |
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| 2010 |
Schulze TG, Alda M, Adli M, Akula N, Ardau R, Bui ET, Chillotti C, Cichon S, Czerski P, Del Zompo M, Detera-Wadleigh SD, Grof P, Gruber O, Hashimoto R, Hauser J, ... ... Rouleau G, et al. The International Consortium on Lithium Genetics (ConLiGen): an initiative by the NIMH and IGSLI to study the genetic basis of response to lithium treatment. Neuropsychobiology. 62: 72-8. PMID 20453537 DOI: 10.1159/000314708 |
0.695 |
|
| 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 |
0.337 |
|
| 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 |
0.691 |
|
| 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 |
0.373 |
|
| 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 |
0.526 |
|
| 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 DOI: 10.1017/S0317167100009744 |
0.306 |
|
| 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 |
0.384 |
|
| 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 |
0.331 |
|
| 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 |
0.364 |
|
| 2010 |
Kabashi E, Valdmanis PN, Daoud H, Belzil VV, Dion PA, Rouleau GA. TDP–43, Protein Aggregation, and Amyotrophic Lateral Sclerosis Us Neurology. 5: 35. DOI: 10.17925/Usn.2010.05.02.35 |
0.648 |
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| 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 |
0.335 |
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| 2010 |
Rouleau G. DE NOVO MUTATIONS IN SYNAPTIC GENES IN SCHIZOPHRENIA AND RELATED NEURODEVELOPMENTAL DISORDERS Schizophrenia Research. 117: 139-140. DOI: 10.1016/J.Schres.2010.02.112 |
0.35 |
|
| 2010 |
Lavigne G, Blanchet P, Khoury S, Carra MC, Rouleau G, Denis R. Headache and sleep: Guidance in recognition | Céphalées et sommeil : Un survol diagnostique et un guide pour le clinicien Douleur Et Analgesie. 23: 175-180. DOI: 10.1007/S11724-010-0207-7 |
0.577 |
|
| 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 |
0.367 |
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| 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 |
0.724 |
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| 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 |
0.399 |
|
| 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 |
0.406 |
|
| 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 |
0.723 |
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| 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 |
0.636 |
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| 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 |
0.791 |
|
| 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 |
0.325 |
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| 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 |
0.344 |
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| 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 |
0.718 |
|
| 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 |
0.416 |
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| 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 |
0.367 |
|
| 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 |
0.323 |
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| 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 |
0.395 |
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| 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 |
0.35 |
|
| 2009 |
Duan QL, Binkley K, Rouleau GA. Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema. The Journal of Allergy and Clinical Immunology. 123: 906-10. PMID 19178938 DOI: 10.1016/J.Jaci.2008.12.010 |
0.359 |
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| 2009 |
Foroud T, Sauerbeck L, Brown R, Anderson C, Woo D, Kleindorfer D, Flaherty ML, Deka R, Hornung R, Meissner I, Bailey-Wilson JE, Langefeld C, Rouleau G, Connolly ES, Lai D, et al. Genome screen in familial intracranial aneurysm. Bmc Medical Genetics. 10: 3. PMID 19144135 DOI: 10.1186/1471-2350-10-3 |
0.305 |
|
| 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 |
0.748 |
|
| 2009 |
Valdmanis PN, Verlaan DJ, Rouleau GA. The proportion of mutations predicted to have a deleterious effect differs between gain and loss of function genes in neurodegenerative disease. Human Mutation. 30: E481-9. PMID 19105188 DOI: 10.1002/Humu.20939 |
0.319 |
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| 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 |
0.712 |
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| 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 |
0.348 |
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| 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 |
0.401 |
|
| 2009 |
Hallmayer J, Faraco J, Lin L, Hesselson S, Winkelmann J, Kawashima M, Mayer G, Plazzi G, Nevsimalova S, Bourgin P, Hong SS, Honda Y, Honda M, Högl B, Longstreth WT, ... ... Rouleau GA, et al. Erratum: Narcolepsy is strongly associated with the T-cell receptor alpha locus Nature Genetics. 41: 859-859. DOI: 10.1038/Ng0709-859B |
0.674 |
|
| 2009 |
Xiong L, Turecki G, Levchenko A, Gaspar C, Hening WA, Montplaisir J, Rouleau GA. Genetics of Restless Legs Syndrome Restless Legs Syndrome. 31-49. DOI: 10.1016/B978-075067518-5.10008-4 |
0.396 |
|
| 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 |
0.373 |
|
| 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 |
0.388 |
|
| 2008 |
Tseng M, Alda M, Xu L, Sun X, Wang JF, Grof P, Turecki G, Rouleau G, Young LT. BDNF protein levels are decreased in transformed lymphoblasts from lithium-responsive patients with bipolar disorder. Journal of Psychiatry & Neuroscience : Jpn. 33: 449-53. PMID 18787660 |
0.642 |
|
| 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 DOI: 10.1017/S031716710000891X |
0.367 |
|
| 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 |
0.385 |
|
| 2008 |
Schormair B, Kemlink D, Roeske D, Eckstein G, Xiong L, Lichtner P, Ripke S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Högl B, Frauscher B, ... ... Rouleau G, et al. PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome. Nature Genetics. 40: 946-8. PMID 18660810 DOI: 10.1038/Ng.190 |
0.485 |
|
| 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 |
0.369 |
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| 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 |
0.306 |
|
| 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 |
0.327 |
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| 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 |
0.602 |
|
| 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 |
0.516 |
|
| 2008 |
Panza E, Pippucci T, Cusano R, Lo Nigro C, Pradella L, Contardi S, Rouleau GA, Stevanin G, Ravazzolo R, Liguori R, Montagna P, Romeo G, Seri M. Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 15: 520-4. PMID 18394049 DOI: 10.1111/J.1468-1331.2008.02117.X |
0.378 |
|
| 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 |
0.35 |
|
| 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 |
0.548 |
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| 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 |
0.614 |
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| 2008 |
Valdmanis PN, Dupré N, Rouleau GA. A locus for primary lateral sclerosis on chromosome 4ptel-4p16.1. Archives of Neurology. 65: 383-6. PMID 18332252 DOI: 10.1001/Archneur.65.3.383 |
0.347 |
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| 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 |
0.366 |
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| 2008 |
Mamdani F, Alda M, Grof P, Young LT, Rouleau G, Turecki G. Lithium response and genetic variation in the CREB family of genes. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 147: 500-4. PMID 18189280 DOI: 10.1002/Ajmg.B.30617 |
0.818 |
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| 2008 |
Valdmanis PN, Rouleau GA. Genetics of familial amyotrophic lateral sclerosis. Neurology. 70: 144-52. PMID 18180444 DOI: 10.1212/01.Wnl.0000296811.19811.Db |
0.395 |
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| 2008 |
Rouleau G, Meijer I. CSCI/RCPSC Henry Friesen lecture: the past and the future of neurogenetics. Clinical and Investigative Medicine. Medecine Clinique Et Experimentale. 30: E269-73. PMID 18053395 DOI: 10.25011/Cim.V30I6.2956 |
0.362 |
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| 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 |
0.308 |
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| 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 |
0.74 |
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| 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 |
0.607 |
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| 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 |
0.389 |
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| 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 |
0.353 |
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| 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 DOI: 10.1017/S0317167100006776 |
0.343 |
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| 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 |
0.392 |
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| 2007 |
Winkelmann J, Schormair B, Lichtner P, Ripke S, Xiong L, Jalilzadeh S, Fulda S, Pütz B, Eckstein G, Hauk S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, ... ... Rouleau G, et al. Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nature Genetics. 39: 1000-6. PMID 17637780 DOI: 10.1038/Ng2099 |
0.577 |
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| 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 DOI: 10.1017/S0317167100006065 |
0.572 |
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| 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 |
0.312 |
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| 2007 |
Zouk H, McGirr A, Lebel V, Benkelfat C, Rouleau G, Turecki G. The effect of genetic variation of the serotonin 1B receptor gene on impulsive aggressive behavior and suicide. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 144: 996-1002. PMID 17510950 DOI: 10.1002/Ajmg.B.30521 |
0.684 |
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| 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 |
0.723 |
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| 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 |
0.592 |
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| 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 |
0.487 |
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| 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 |
0.609 |
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| 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 |
0.542 |
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| 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 |
0.328 |
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| 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 |
0.714 |
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| 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 |
0.3 |
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| 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 |
0.378 |
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| 2007 |
Mamdani F, Sequeira A, Alda M, Grof P, Rouleau G, Turecki G. No association between the PREP gene and lithium responsive bipolar disorder. Bmc Psychiatry. 7: 9. PMID 17324276 DOI: 10.1186/1471-244X-7-9 |
0.82 |
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| 2007 |
Pauls D, Cath D, Heutink P, Grados M, Singer HS, Walkup JT, Illmann C, Scharf JM, Santangelo S, Stewart SE, Platko J, Pauls DL, Cox NJ, Robertson MM, Service S, ... ... Rouleau GA, et al. Genome scan for tourette disorder in affected-sibling-pair and multigenerational families American Journal of Human Genetics. 80: 265-272. PMID 17304708 DOI: 10.1086/511052 |
0.395 |
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| 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 |
0.336 |
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| 2007 |
Lopez de Lara C, Brezo J, Rouleau G, Lesage A, Dumont M, Alda M, Benkelfat C, Turecki G. Effect of tryptophan hydroxylase-2 gene variants on suicide risk in major depression. Biological Psychiatry. 62: 72-80. PMID 17217922 DOI: 10.1016/J.Biopsych.2006.09.008 |
0.801 |
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| 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 |
0.35 |
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| 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 |
0.372 |
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| 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 |
0.391 |
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| 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 |
0.359 |
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| 2007 |
Brinkmann RR, Dubé M, Rouleau GA, Orr AC, Samuels ME. Loss-of-function genetic diseases and the concept of pharmaceutical targets Nature Reviews Genetics. 8: 404-404. DOI: 10.1038/Nrg1828-C2 |
0.536 |
|
| 2007 |
Bouchard JP, Brais B, Dupré N, Rouleau GA. Chapter 9 Hereditary Ataxias and Spastic Parapareses in Northeastern Canada Blue Books of Neurology. 31: 222-243. DOI: 10.1016/S1877-184X(09)70083-8 |
0.477 |
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| 2007 |
Dupre N, Gros-Louis F, Chrestian N, Verteuil Dd, Brais B, Bouchard J, Rouleau G. G.P.18.08 Clinical and genetic study of autosomal recessive cerebellar ataxia type 1 Neuromuscular Disorders. 17: 892. DOI: 10.1016/J.Nmd.2007.06.435 |
0.552 |
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| 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 |
0.351 |
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| 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 |
0.307 |
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| 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 |
0.67 |
|
| 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 |
0.513 |
|
| 2006 |
Sengupta S, Xiong L, Fathalli F, Benkelfat C, Tabbane K, Danics Z, Labelle A, Lal S, Krebs MO, Rouleau G, Joober R. Association study of the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia. Bmc Genetics. 7: 34. PMID 16749937 DOI: 10.1186/1471-2156-7-34 |
0.37 |
|
| 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 DOI: 10.1017/S031716710000490X |
0.599 |
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| 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 |
0.725 |
|
| 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 |
0.303 |
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| 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 |
0.532 |
|
| 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 |
0.393 |
|
| 2006 |
Murdoch S, Djuric U, Mazhar B, Seoud M, Khan R, Kuick R, Bagga R, Kircheisen R, Ao A, Ratti B, Hanash S, Rouleau GA, Slim R. Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nature Genetics. 38: 300-2. PMID 16462743 DOI: 10.1038/Ng1740 |
0.323 |
|
| 2006 |
Sequeira A, Gwadry FG, Ffrench-Mullen JM, Canetti L, Gingras Y, Casero RA, Rouleau G, Benkelfat C, Turecki G. Implication of SSAT by gene expression and genetic variation in suicide and major depression. Archives of General Psychiatry. 63: 35-48. PMID 16389195 DOI: 10.1001/Archpsyc.63.1.35 |
0.726 |
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| 2006 |
Lopez de Lara C, Dumais A, Rouleau G, Lesage A, Dumont M, Chawky N, Alda M, Benkelfat C, Turecki G. STin2 variant and family history of suicide as significant predictors of suicide completion in major depression. Biological Psychiatry. 59: 114-20. PMID 16125146 DOI: 10.1016/J.Biopsych.2005.06.021 |
0.751 |
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| 2006 |
Alexander C, Laberge A, Rouleau G, Mathieu J, Bouchard J, Brais B. G.P.9 03 Clinical variables to assess phenotype severity in (GCG)9 OPMD cases Neuromuscular Disorders. 16: 711. DOI: 10.1016/J.Nmd.2006.05.217 |
0.52 |
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| 2006 |
Klein A, Ebihara M, Dicaire M, Abu-Baker A, Rouleau G, Brais B. G.P.9 02 Long expansion and deletion of the polyalanine domain in PABPN1 lead to a modified aggregation pattern Neuromuscular Disorders. 16: 711. DOI: 10.1016/J.Nmd.2006.05.216 |
0.499 |
|
| 2005 |
Ruttledge MH, Rouleau GA. Role of the neurofibromatosis type 2 gene in the development of tumors of the nervous system. Neurosurgical Focus. 19: E6. PMID 16398470 DOI: 10.3171/Foc.2005.19.5.7 |
0.337 |
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| 2005 |
Buckley PG, Mantripragada KK, DÃaz de StÃ¥hl T, Piotrowski A, Hansson CM, Kiss H, Vetrie D, Ernberg IT, Nordenskjöld M, Bolund L, Sainio M, Rouleau GA, Niimura M, Wallace AJ, Evans DG, et al. Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2. Human Mutation. 26: 540-9. PMID 16287142 DOI: 10.1002/Humu.20255 |
0.39 |
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| 2005 |
Dumais A, Lesage AD, Alda M, Rouleau G, Dumont M, Chawky N, Roy M, Mann JJ, Benkelfat C, Turecki G. Risk factors for suicide completion in major depression: a case-control study of impulsive and aggressive behaviors in men. The American Journal of Psychiatry. 162: 2116-24. PMID 16263852 DOI: 10.1176/Appi.Ajp.162.11.2116 |
0.742 |
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| 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 DOI: 10.1017/S0317167100004200 |
0.353 |
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| 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 |
0.595 |
|
| 2005 |
DÃaz-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 |
0.368 |
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| 2005 |
Nikpoor B, Duan QL, Rouleau GA. Acute adverse reactions associated with angiotensin-converting enzyme inhibitors: genetic factors and therapeutic implications. Expert Opinion On Pharmacotherapy. 6: 1851-6. PMID 16144506 DOI: 10.1517/14656566.6.11.1851 |
0.313 |
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| 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 |
0.625 |
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| 2005 |
Meyer J, Johannssen K, Freitag CM, Schraut K, Teuber I, Hahner A, Mainhardt C, Mössner R, Volz HP, Wienker TF, McKeane D, Stephan DA, Rouleau G, Reif A, Lesch KP. Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder. The International Journal of Neuropsychopharmacology / Official Scientific Journal of the Collegium Internationale Neuropsychopharmacologicum (Cinp). 8: 495-504. PMID 16098236 DOI: 10.1017/S1461145705005821 |
0.437 |
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