| Year |
Citation |
Score |
| 2024 |
Chen S, Ashton C, Sakalla R, Clement G, Planel S, Bonnet C, Lamont P, Kulanthaivelu K, Nalini A, Houlden H, Duquette A, Dicaire MJ, Iruzubieta Agudo P, Ruiz Martinez J, de Lucas EM, ... ... Brais B, et al. Neuroradiological findings in GAA- ataxia (SCA27B): more than cerebellar atrophy. Medrxiv : the Preprint Server For Health Sciences. PMID 38405699 DOI: 10.1101/2024.02.16.24302945 |
0.624 |
|
| 2024 |
Pellerin D, Danzi MC, Renaud M, Houlden H, Synofzik M, Zuchner S, Brais B. Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia. Clinical and Translational Medicine. 14: e1504. PMID 38279833 DOI: 10.1002/ctm2.1504 |
0.318 |
|
| 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, ... ... Brais B, et al. White matter abnormalities in 15 subjects with SPG76. Journal of Neurology. PMID 37578488 DOI: 10.1007/s00415-023-11918-5 |
0.395 |
|
| 2023 |
Hengel H, Pellerin D, Wilke C, Fleszar Z, Brais B, Haack T, Traschütz A, Schöls L, Synofzik M. As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort. Movement Disorders : Official Journal of the Movement Disorder Society. 38: 1557-1558. PMID 37528564 DOI: 10.1002/mds.29559 |
0.312 |
|
| 2023 |
Alshimemeri S, Abo Alsamh D, Zhou L, Furtado S, Kraft S, Bruno V, Duquette A, Brais B, Suchowersky O, Munhoz RP, Slow E. Demographics and Clinical Characteristics of Autosomal Dominant Spinocerebellar Ataxia in Canada. Movement Disorders Clinical Practice. 10: 440-451. PMID 36949783 DOI: 10.1002/mdc3.13666 |
0.607 |
|
| 2022 |
Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, ... ... Brais B, et al. Deep Intronic GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. The New England Journal of Medicine. PMID 36516086 DOI: 10.1056/NEJMoa2207406 |
0.754 |
|
| 2021 |
Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, ... ... Brais B, et al. NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia. Brain : a Journal of Neurology. PMID 34788392 DOI: 10.1093/brain/awab407 |
0.333 |
|
| 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 |
0.66 |
|
| 2020 |
Nicolau S, Choquet K, Bareke E, Shao YH, Brais B, O'Ferrall EK, Tétreault M, Karamchandani J. A molecular diagnosis of LGMDR1 established by RNA sequencing. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 1-11. PMID 32646536 DOI: 10.1017/Cjn.2020.141 |
0.554 |
|
| 2020 |
Pellerin D, Ellezam B, Korathanakhun P, Renaud M, Dicaire MJ, Pilote L, Levy JP, Karamchandani J, Ducharme S, Massie R, Brais B. Multi-system proteinopathy associated with a G156S mutation in a French Canadian family. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 1-11. PMID 32036797 DOI: 10.1017/Cjn.2020.25 |
0.421 |
|
| 2020 |
Smith C, Dicaire MJ, Brais B, Piana R. Neurological involvement in Glycogen Storage Disease type IXa due to mutation. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 1-13. PMID 31987065 DOI: 10.1017/Cjn.2020.18 |
0.452 |
|
| 2020 |
Pellerin D, Aykanat A, Ellezam B, Troiano EC, Karamchandani J, Dicaire MJ, Petitclerc M, Robertson R, Allard-Chamard X, Brunet D, Konersman CG, Mathieu J, Warman Chardon J, Gupta VA, Beggs AH, ... Brais B, et al. A Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians. Annals of Neurology. PMID 31970803 DOI: 10.1002/Ana.25685 |
0.343 |
|
| 2020 |
Robertson R, Conte TC, Dicaire MJ, Rymar VV, Sadikot AF, Bryson-Richardson RJ, Lavoie JN, O'Ferrall E, Young JC, Brais B. BAG3 mice as a model of BAG3 myofibrillar myopathy. The American Journal of Pathology. PMID 31953038 DOI: 10.1016/J.Ajpath.2019.11.005 |
0.392 |
|
| 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 |
0.774 |
|
| 2019 |
Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J. Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay. Neurology. PMID 31534027 DOI: 10.1212/Wnl.0000000000008313 |
0.307 |
|
| 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 |
0.473 |
|
| 2019 |
Choquet K, Pinard M, Yang S, Moir RD, Poitras C, Dicaire MJ, Sgarioto N, Larivière R, Kleinman CL, Willis IM, Gauthier MS, Coulombe B, Brais B. The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis. Molecular Brain. 12: 59. PMID 31221184 DOI: 10.1186/S13041-019-0479-7 |
0.475 |
|
| 2019 |
Briand MM, Rodrigue X, Lessard I, Mathieu J, Brais B, Côté I, Gagnon C. Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay. Journal of the Neurological Sciences. 400: 39-41. PMID 30901567 DOI: 10.1016/J.Jns.2019.03.008 |
0.333 |
|
| 2019 |
Choquet K, Forget D, Meloche E, Dicaire MJ, Bernard G, Vanderver A, Schiffmann R, Fabian MR, Teichmann M, Coulombe B, Brais B, Kleinman CL. Leukodystrophy-associated mutations down-regulate the RNA polymerase III transcript and important regulatory RNA . The Journal of Biological Chemistry. PMID 30898877 DOI: 10.1074/Jbc.Ra118.006271 |
0.391 |
|
| 2019 |
Larivière R, Sgarioto N, Márquez BT, Gaudet R, Choquet K, McKinney RA, Watt AJ, Brais B. Sacs R272C missense homozygous mice develop an ataxia phenotype. Molecular Brain. 12: 19. PMID 30866998 DOI: 10.1186/S13041-019-0438-3 |
0.47 |
|
| 2018 |
La Piana R, Leppert IR, Pike GB, Lanthier S, Brais B, Tampieri D. 3T MRI study discloses high intrafamilial variability in CADASIL due to a novel NOTCH3 mutation. Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia. 58: 25-29. PMID 30454692 DOI: 10.1016/J.Jocn.2018.10.080 |
0.44 |
|
| 2018 |
Gentil BJ, Lai GT, Menade M, Larivière R, Minotti S, Gehring K, Chapple JP, Brais B, Durham HD. Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. fj201801556R. PMID 30332300 DOI: 10.1096/Fj.201801556R |
0.332 |
|
| 2018 |
Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J. From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay. Orphanet Journal of Rare Diseases. 13: 165. PMID 30231904 DOI: 10.1186/S13023-018-0898-Z |
0.406 |
|
| 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 |
0.377 |
|
| 2018 |
Ménade M, Kozlov G, Trempe JF, Pande H, Shenker S, Wickremasinghe S, Li X, Hojjat H, Dicaire MJ, Brais B, McPherson PS, Wong MJH, Young JC, Gehring K. Structures of Ubl and Hsp90-like domains of sacsin provide insight into pathological mutations. The Journal of Biological Chemistry. PMID 29945973 DOI: 10.1074/Jbc.Ra118.003939 |
0.362 |
|
| 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 |
0.683 |
|
| 2017 |
Milot E, Moreau C, Gagnon A, Cohen AA, Brais B, Labuda D. Mother's curse neutralizes natural selection against a human genetic disease over three centuries. Nature Ecology & Evolution. 1: 1400-1406. PMID 29046555 DOI: 10.1038/S41559-017-0276-6 |
0.316 |
|
| 2017 |
Duncan EJ, Larivière R, Bradshaw TY, Longo F, Sgarioto N, Hayes MJ, Romano LEL, Nethisinghe S, Giunti P, Bruntraeger MB, Durham HD, Brais B, Maltecca F, Gentil BJ, Paul Chapple J. Altered organisation of the intermediate filament cytoskeleton and relocalisation of proteostasis modulators in cells lacking the ataxia protein sacsin. Human Molecular Genetics. PMID 28535259 DOI: 10.1093/Hmg/Ddx197 |
0.364 |
|
| 2017 |
Vihola A, Luque H, Savarese M, Penttilä S, Lindfors M, Leturcq F, Eymard B, Tasca G, Brais B, Conte T, Charton K, Richard I, Udd B. Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy. Neuropathology and Applied Neurobiology. PMID 28489263 DOI: 10.1111/Nan.12410 |
0.401 |
|
| 2017 |
Choquet K, Yang S, Moir RD, Forget D, Larivière R, Bouchard A, Poitras C, Sgarioto N, Dicaire MJ, Noohi F, Kennedy TE, Rochford J, Bernard G, Teichmann M, Coulombe B, ... ... Brais B, et al. Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation. Molecular Brain. 10: 13. PMID 28407788 DOI: 10.1186/S13041-017-0294-Y |
0.415 |
|
| 2017 |
La Piana R, Weraarpachai W, Ospina LH, Tetreault M, Majewski J, Bruce Pike G, Decarie JC, Tampieri D, Brais B, Shoubridge EA. Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype. Neurogenetics. PMID 28058511 DOI: 10.1007/S10048-016-0506-0 |
0.666 |
|
| 2016 |
Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, ... ... Brais B, et al. Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. Brain : a Journal of Neurology. PMID 27816943 DOI: 10.1093/Brain/Aww257 |
0.705 |
|
| 2016 |
Shao YH, Choquet K, La Piana R, Tétreault M, Dicaire MJ, Boycott KM, Majewski J, Brais B. Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia. Neurogenetics. PMID 26915362 DOI: 10.1007/S10048-016-0476-2 |
0.675 |
|
| 2016 |
Brais B, Conte T, Dicaire M, Tetreault M, O'Ferrall E, Ravenscroft G, Laing N, Lamont P, Taivasssalo T, Hepple R, Mathieu J. A missense mutation in the putative sarcoplasmic reticulum transmembrane protein DCST2 causes dominant strongman syndrome Neuromuscular Disorders. 26: S95. DOI: 10.1016/J.Nmd.2016.06.038 |
0.679 |
|
| 2015 |
Choquet K, Zurita-Rendón O, La Piana R, Yang S, Dicaire MJ, Boycott KM, Majewski J, Shoubridge EA, Brais B, Tétreault M. Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. Brain : a Journal of Neurology. PMID 26657514 DOI: 10.1093/brain/awv362 |
0.666 |
|
| 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 |
0.749 |
|
| 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, ... ... Brais B, 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 |
0.591 |
|
| 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, 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 |
0.565 |
|
| 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 |
0.611 |
|
| 2015 |
Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, et al. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nature Communications. 6: 7623. PMID 26151409 DOI: 10.1038/Ncomms8623 |
0.482 |
|
| 2015 |
Tétreault M, Gonzalez M, Dicaire MJ, Allard P, Gehring K, Leblanc D, Leclerc N, Schondorf R, Mathieu J, Zuchner S, Brais B. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. Brain : a Journal of Neurology. 138: 1477-83. PMID 25818867 DOI: 10.1093/Brain/Awv074 |
0.688 |
|
| 2015 |
Choquet K, La Piana R, Brais B. A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia. Neurogenetics. 16: 233-6. PMID 25566820 DOI: 10.1007/S10048-014-0436-7 |
0.51 |
|
| 2015 |
Larivière R, Gaudet R, Gentil BJ, Girard M, Conte TC, Minotti S, Leclerc-Desaulniers K, Gehring K, McKinney RA, Shoubridge EA, McPherson PS, Durham HD, Brais B. Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay. Human Molecular Genetics. 24: 727-39. PMID 25260547 DOI: 10.1093/Hmg/Ddu491 |
0.403 |
|
| 2014 |
Piana RL, Vanasse M, Brais B, Bernard G. Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene. Journal of Child Neurology. PMID 25380603 DOI: 10.1177/0883073814555189 |
0.423 |
|
| 2014 |
La Piana R, Tran LT, Guerrero K, Brais B, Levesque S, Sébire G, Riou E, Bernard G. Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome. Neuropediatrics. 45: 406-10. PMID 25343331 DOI: 10.1055/S-0034-1393710 |
0.338 |
|
| 2014 |
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, et al. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology. 83: 1898-905. PMID 25339210 DOI: 10.1212/Wnl.0000000000001002 |
0.415 |
|
| 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 |
0.528 |
|
| 2014 |
La Piana R, Webber A, Guiot MC, Del Pilar Cortes M, Brais B. A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids. Neurogenetics. 15: 289-94. PMID 25012610 DOI: 10.1007/S10048-014-0413-1 |
0.464 |
|
| 2014 |
Srour M, Putorti ML, Schwartzentruber J, Bolduc V, Shevell MI, Poulin C, O'ferrall E, Buhas D, Majewski J, Brais B. Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. Muscle & Nerve. 50: 775-9. PMID 24616084 DOI: 10.1002/Mus.24224 |
0.734 |
|
| 2014 |
La Piana R, Tonduti D, Gordish Dressman H, Schmidt JL, Murnick J, Brais B, Bernard G, Vanderver A. Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies. Journal of Child Neurology. 29: 214-20. PMID 24105487 DOI: 10.1177/0883073813503902 |
0.343 |
|
| 2014 |
Conte T, Tetreault M, Dicaire M, Provost S, Al-Bustani N, Beland B, Dube M, Bolduc V, Srour M, O’Ferrall E, Bouchard J, Ravenscroft G, Laing N, Lamont P, Mathieu J, ... ... Brais B, et al. G.P.197 Neuromuscular Disorders. 24: 875-876. DOI: 10.1016/J.Nmd.2014.06.273 |
0.657 |
|
| 2013 |
Blumen SC, Kesler A, Dabby R, Shalev S, Khayat M, Almog Y, Zoldan J, Benninger F, Drory VE, Gurevich M, Sadeh M, Brais B, Braverman I. Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster? The Israel Medical Association Journal : Imaj. 15: 748-52. PMID 24449978 DOI: 10.1007/978-1-4614-6567-6_60 |
0.416 |
|
| 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 |
0.444 |
|
| 2013 |
Duquette A, Brais B, Bouchard JP, Mathieu J. Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 2011-4. PMID 23913799 DOI: 10.1002/Mds.25604 |
0.656 |
|
| 2013 |
Raz V, Butler-Browne G, van Engelen B, Brais B. 191st ENMC international workshop: recent advances in oculopharyngeal muscular dystrophy research: from bench to bedside 8-10 June 2012, Naarden, The Netherlands. Neuromuscular Disorders : Nmd. 23: 516-23. PMID 23578714 DOI: 10.1016/J.Nmd.2013.03.001 |
0.408 |
|
| 2013 |
Daoud H, Tétreault M, Gibson W, Guerrero K, Cohen A, Gburek-Augustat J, Synofzik M, Brais B, Stevens CA, Sanchez-Carpintero R, Goizet C, Naidu S, Vanderver A, Bernard G. Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. Journal of Medical Genetics. 50: 194-7. PMID 23355746 DOI: 10.1136/Jmedgenet-2012-101357 |
0.507 |
|
| 2013 |
Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, ... ... Brais B, et al. Diversity of ARSACS mutations in French-Canadians. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 40: 61-6. PMID 23250129 DOI: 10.1017/S0317167100012968 |
0.797 |
|
| 2012 |
Potic A, Brais B, Choquet K, Schiffmann R, Bernard G. 4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations. Archives of Neurology. 69: 920-3. PMID 22451160 DOI: 10.1001/Archneurol.2011.1963 |
0.424 |
|
| 2012 |
Bayat V, Thiffault I, Jaiswal M, Tétreault M, Donti T, Sasarman F, Bernard G, Demers-Lamarche J, Dicaire MJ, Mathieu J, Vanasse M, Bouchard JP, Rioux MF, Lourenco CM, Li Z, ... ... Brais B, et al. Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. Plos Biology. 10: e1001288. PMID 22448145 DOI: 10.1371/Journal.Pbio.1001288 |
0.424 |
|
| 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 |
0.539 |
|
| 2012 |
La Piana R, Vanderver A, van der Knaap M, Roux L, Tampieri D, Brais B, Bernard G. Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation. Archives of Neurology. 69: 765-68. PMID 22312164 DOI: 10.1001/Archneurol.2011.1942 |
0.463 |
|
| 2012 |
Girard M, Larivière R, Parfitt DA, Deane EC, Gaudet R, Nossova N, Blondeau F, Prenosil G, Vermeulen EG, Duchen MR, Richter A, Shoubridge EA, Gehring K, McKinney RA, Brais B, et al. Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Proceedings of the National Academy of Sciences of the United States of America. 109: 1661-6. PMID 22307627 DOI: 10.1073/Pnas.1113166109 |
0.314 |
|
| 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 |
0.771 |
|
| 2012 |
Tetreault M, Choquet K, Orcesi S, Tonduti D, Ballotin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G. Recessive Mutations in POLR3B Encoding the Second Largest Subunit of Pol III Cause a Rare Hypomyelinating Leukodystrophy (P05.136) Neurology. 78. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.136 |
0.693 |
|
| 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 |
0.777 |
|
| 2012 |
Al-Bustani N, Tétreault M, Provost S, Bolduc V, Srour M, O’Ferrall E, Dubé M, Bouchard J, Ravenscroft G, Laing N, Bignell D, Lamont P, Mathieu J, Brais B. G.P.126 “Strongman syndrome”: A new autosomal dominant herculean painful myopathy Neuromuscular Disorders. 22: 904. DOI: 10.1016/J.Nmd.2012.06.332 |
0.67 |
|
| 2011 |
Tétreault M, Choquet K, Orcesi S, Tonduti D, Balottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. American Journal of Human Genetics. 89: 652-5. PMID 22036172 DOI: 10.1016/J.Ajhg.2011.10.006 |
0.466 |
|
| 2011 |
Tétreault M, Srour M, Allyson J, Thiffault I, Loisel L, Robitaille Y, Bouchard JP, Brais B. Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 38: 747-52. PMID 21856579 |
0.42 |
|
| 2011 |
Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Carosso G, Clément I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, ... ... Brais B, et al. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. American Journal of Human Genetics. 89: 415-23. PMID 21855841 DOI: 10.1016/J.Ajhg.2011.07.014 |
0.464 |
|
| 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, 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 |
0.608 |
|
| 2011 |
Kozlov G, Denisov AY, Girard M, Dicaire MJ, Hamlin J, McPherson PS, Brais B, Gehring K. Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The Journal of Biological Chemistry. 286: 20407-12. PMID 21507954 DOI: 10.1074/Jbc.M111.232884 |
0.397 |
|
| 2011 |
Brais B. Oculopharyngeal muscular dystrophy. Handbook of Clinical Neurology. 101: 181-92. PMID 21496634 DOI: 10.1016/B978-0-08-045031-5.00014-1 |
0.361 |
|
| 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 |
0.793 |
|
| 2010 |
Rajadhyaksha AM, Elemento O, Puffenberger EG, Schierberl KC, Xiang JZ, Putorti ML, Berciano J, Poulin C, Brais B, Michaelides M, Weleber RG, Higgins JJ. Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. American Journal of Human Genetics. 87: 643-54. PMID 21070897 DOI: 10.1016/J.Ajhg.2010.10.013 |
0.435 |
|
| 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, 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 |
0.52 |
|
| 2010 |
Bernard G, Thiffault I, Tetreault M, Putorti ML, Bouchard I, Sylvain M, Melançon S, Laframboise R, Langevin P, Bouchard JP, Vanasse M, Vanderver A, Sébire G, Brais B. Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. Neurogenetics. 11: 457-64. PMID 20640464 DOI: 10.1007/S10048-010-0251-8 |
0.646 |
|
| 2010 |
Srour M, Bolduc V, Guergueltcheva V, Lochmüller H, Gendron D, Shevell MI, Poulin C, Mathieu J, Bouchard JP, Brais B. DOK7 mutations presenting as a proximal myopathy in French Canadians. Neuromuscular Disorders : Nmd. 20: 453-7. PMID 20610155 DOI: 10.1016/J.Nmd.2010.05.007 |
0.792 |
|
| 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 |
0.462 |
|
| 2010 |
Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, ... ... Brais B, et al. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. American Journal of Human Genetics. 86: 213-21. PMID 20096397 DOI: 10.1016/J.Nmd.2010.07.131 |
0.779 |
|
| 2010 |
Marlow G, Bolduc V, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen W, Mahjneh I, ... ... Brais B, et al. P13 Identification of a novel group of muscular dystrophies, the Anoctaminopathies, caused by recessive mutations in the putative calcium activated chloride channel, ANO5 Neuromuscular Disorders. 20. DOI: 10.1016/S0960-8966(10)70028-6 |
0.368 |
|
| 2009 |
Blumen SC, Bouchard JP, Brais B, Carasso RL, Paleacu D, Drory VE, Chantal S, Blumen N, Braverman I. Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes. Neurology. 73: 596-601. PMID 19704078 DOI: 10.1212/Wnl.0B013E3181B388A3 |
0.346 |
|
| 2009 |
Loggia ML, Bushnell MC, Tétreault M, Thiffault I, Bhérer C, Mohammed NK, Kuchinad AA, Laferrière A, Dicaire MJ, Loisel L, Mogil JS, Brais B. Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 29: 2162-6. PMID 19228968 DOI: 10.1523/Jneurosci.4633-08.2009 |
0.347 |
|
| 2009 |
Brais B. Oculopharyngeal muscular dystrophy: a polyalanine myopathy. Current Neurology and Neuroscience Reports. 9: 76-82. PMID 19080757 DOI: 10.1007/S11910-009-0012-Y |
0.475 |
|
| 2009 |
Dupré N, Chrestian N, Bouchard JP, Rossignol E, Brunet D, Sternberg D, Brais B, Mathieu J, Puymirat J. Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. Neuromuscular Disorders : Nmd. 19: 330-4. PMID 18337100 DOI: 10.1016/J.Nmd.2008.01.007 |
0.5 |
|
| 2008 |
Gosselin I, Thiffault I, Tétreault M, Chau V, Dicaire MJ, Loisel L, Emond M, Senderek J, Mathieu J, Dupré N, Vanasse M, Puymirat J, Brais B. Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. Neuromuscular Disorders : Nmd. 18: 483-92. PMID 18511281 DOI: 10.1016/J.Nmd.2008.04.001 |
0.704 |
|
| 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 |
0.464 |
|
| 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 |
0.522 |
|
| 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 |
0.566 |
|
| 2008 |
Cotton R, Axton M, Bankier A, Brais B, Cavedon L, Sart Dd, George P, Goldgar D, Harrison T, Hibbert M, Hopper J, Macrae F, O’Keefe CM, Ravine D, Savarirayan R, et al. Suggested actions from the Melbourne HVP Information Seminar Nature Precedings. 3: 1-1. DOI: 10.1038/Npre.2008.1784.2 |
0.313 |
|
| 2008 |
Srour M, Shevell M, Brais B. G.P.1.14 A novel form of severe childhood autosomal recessive sensory neuropathy associated with optic atrophy and deafness maps to chromosome 8 q24.22-term Neuromuscular Disorders. 18: 734-735. DOI: 10.1016/J.Nmd.2008.06.040 |
0.312 |
|
| 2007 |
Rossignol E, Mathieu J, Thiffault I, Tétreault M, Dicaire MJ, Chrestian N, Dupré N, Puymirat J, Brais B. A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians. Neurology. 69: 1937-41. PMID 17998485 DOI: 10.1212/01.Wnl.0000290831.08585.2C |
0.523 |
|
| 2007 |
Nahas SA, Duquette A, Roddier K, Gatti RA, Brais B. Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation. Neuromuscular Disorders : Nmd. 17: 968-9. PMID 17720498 DOI: 10.1016/J.Nmd.2007.06.464 |
0.711 |
|
| 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 |
0.586 |
|
| 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 |
0.608 |
|
| 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 |
0.612 |
|
| 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 |
0.465 |
|
| 2007 |
Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, Tétreault M, Loisel L, Bouchard JP, Brais B. A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. Brain : a Journal of Neurology. 130: 368-80. PMID 17008331 DOI: 10.1093/Brain/Awl270 |
0.766 |
|
| 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 |
0.411 |
|
| 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 |
0.466 |
|
| 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 |
0.464 |
|
| 2006 |
Tétreault M, Duquette A, Thiffault I, Bherer C, Jarry J, Loisel L, Banwell B, D'Anjou G, Mathieu J, Robitaille Y, Vanasse M, Brais B. A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21. Brain : a Journal of Neurology. 129: 2077-84. PMID 16760198 DOI: 10.1093/Brain/Awl146 |
0.723 |
|
| 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 |
0.502 |
|
| 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 |
0.717 |
|
| 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 |
0.361 |
|
| 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 |
0.409 |
|
| 2006 |
Bolduc V, Jarry J, Rioux MF, Robitaille Y, Khoury V, Thiffault I, Tétreault M, Loisel L, Bouchard JP, Brais B. P.O.4 A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12 Neuromuscular Disorders. 16: 684. DOI: 10.1016/J.Nmd.2006.05.136 |
0.571 |
|
| 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 |
0.604 |
|
| 2005 |
Laberge AM, Jomphe M, Houde L, Vezina H, Tremblay M, Desjardins B, Labuda D, St-Hilaire M, Macmillan C, Shoubridge EA, Brais B. A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians. American Journal of Human Genetics. 77: 313-7. PMID 15954041 DOI: 10.1086/432491 |
0.409 |
|
| 2005 |
Roddier K, Thomas T, Marleau G, Gagnon AM, Dicaire MJ, St-Denis A, Gosselin I, Sarrazin AM, Larbrisseau A, Lambert M, Vanasse M, Gaudet D, Rouleau GA, Brais B. Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. Neurology. 64: 1762-7. PMID 15911806 DOI: 10.1212/01.Wnl.0000161849.29944.43 |
0.627 |
|
| 2005 |
Corbeil-Girard LP, Klein AF, Sasseville AM, Lavoie H, Dicaire MJ, Saint-Denis A, Pagé M, Duranceau A, Codère F, Bouchard JP, Karpati G, Rouleau GA, Massie B, Langelier Y, Brais B. PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions. Neurobiology of Disease. 18: 551-67. PMID 15755682 DOI: 10.1016/J.Nbd.2004.10.019 |
0.481 |
|
| 2005 |
Dion P, Shanmugam V, Gaspar C, Messaed C, Meijer I, Toulouse A, Laganiere J, Roussel J, Rochefort D, Laganiere S, Allen C, Karpati G, Bouchard JP, Brais B, Rouleau GA. Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice. Neurobiology of Disease. 18: 528-36. PMID 15755680 DOI: 10.1016/J.Nbd.2004.09.021 |
0.475 |
|
| 2005 |
Duquette A, Roddier K, McNabb-Baltar J, Gosselin I, St-Denis A, Dicaire MJ, Loisel L, Labuda D, Marchand L, Mathieu J, Bouchard JP, Brais B. Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. Annals of Neurology. 57: 408-14. PMID 15732101 DOI: 10.1002/Ana.20408 |
0.737 |
|
| 2005 |
RodrÃguez M, Camejo C, Bertoni B, Braida C, RodrÃguez MM, Brais B, Medici M, Roche L. (GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families. Neuromuscular Disorders : Nmd. 15: 185-90. PMID 15694141 DOI: 10.1016/J.Nmd.2004.10.012 |
0.492 |
|
| 2004 |
Pou Serradell A, Lloreta Trull J, Corominas Torres JM, Hammouda EH, Urtizberea JA, Richard P, Brais B. [Oculopharyngeal muscular dystrophy: study of patients from seven Spanish families with different GCG expansions in PABP2 gene]. Neurologãa (Barcelona, Spain). 19: 239-47. PMID 15150706 |
0.347 |
|
| 2004 |
Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O'Driscoll M, Brais B, Meilleur S, Brinkman RR, Dadivas O, Pape T, Platon C, Radomski C, Risler J, Thompson J, Guerra-Escobio AM, et al. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. American Journal of Human Genetics. 74: 1064-73. PMID 15060842 DOI: 10.1086/420795 |
0.685 |
|
| 2003 |
Brais B. Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease. Cytogenetic and Genome Research. 100: 252-60. PMID 14526187 DOI: 10.1159/000072861 |
0.413 |
|
| 2003 |
Lavoie H, Debeane F, Trinh QD, Turcotte JF, Corbeil-Girard LP, Dicaire MJ, Saint-Denis A, Pagé M, Rouleau GA, Brais B. Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains. Human Molecular Genetics. 12: 2967-79. PMID 14519685 DOI: 10.1093/Hmg/Ddg329 |
0.482 |
|
| 2003 |
Stumpf E, Masson H, Duquette A, Berthelet F, McNabb J, Lortie A, Lesage J, Montplaisir J, Brais B, Cossette P. Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene. Archives of Neurology. 60: 1307-12. PMID 12975300 DOI: 10.1001/Archneur.60.9.1307 |
0.73 |
|
| 2003 |
Fan X, Messaed C, Dion P, Laganiere J, Brais B, Karpati G, Rouleau GA. HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 30: 244-51. PMID 12945950 DOI: 10.1017/S0317167100002675 |
0.618 |
|
| 2003 |
Abu-Baker A, Messaed C, Laganiere J, Gaspar C, Brais B, Rouleau GA. Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy. Human Molecular Genetics. 12: 2609-23. PMID 12944420 DOI: 10.1093/Hmg/Ddg293 |
0.444 |
|
| 2001 |
Codère F, Brais B, Rouleau G, Lafontaine E. Oculopharyngeal muscular dystrophy: What's new? Orbit (Amsterdam, Netherlands). 20: 259-266. PMID 12045902 DOI: 10.1076/Orbi.20.4.259.2617 |
0.476 |
|
| 2001 |
Fan X, Dion P, Laganiere J, Brais B, Rouleau GA. Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death. Human Molecular Genetics. 10: 2341-51. PMID 11689481 DOI: 10.1093/Hmg/10.21.2341 |
0.6 |
|
| 2000 |
Blumen SC, Korczyn AD, Lavoie H, Medynski S, Chapman J, Asherov A, Nisipeanu P, Inzelberg R, Carasso RL, Bouchard JP, Tomé FM, Rouleau GA, Brais B. Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene. Neurology. 55: 1267-70. PMID 11087766 DOI: 10.1212/Wnl.55.9.1267 |
0.614 |
|
| 2000 |
Shanmugam V, Dion P, Rochefort D, Laganière J, Brais B, Rouleau GA. PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy. Annals of Neurology. 48: 798-802. PMID 11079546 DOI: 10.1002/1531-8249(200011)48:5<798::Aid-Ana16>3.0.Co;2-U |
0.53 |
|
| 2000 |
Calado A, Tomé FM, Brais B, Rouleau GA, Kühn U, Wahle E, Carmo-Fonseca M. Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. Human Molecular Genetics. 9: 2321-8. PMID 11001936 DOI: 10.1093/Oxfordjournals.Hmg.A018924 |
0.467 |
|
| 2000 |
Gaspar C, Jannatipour M, Dion P, Laganière J, Sequeiros J, Brais B, Rouleau GA. CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation. Human Molecular Genetics. 9: 1957-66. PMID 10942424 DOI: 10.1093/Hmg/9.13.1957 |
0.479 |
|
| 1999 |
Brais B, Rouleau GA, Bouchard JP, Fardeau M, Tomé FM. Oculopharyngeal muscular dystrophy. Seminars in Neurology. 19: 59-66. PMID 10711989 DOI: 10.1055/S-2008-1040826 |
0.535 |
|
| 1999 |
Blumen SC, Brais B, Korczyn AD, Medinsky S, Chapman J, Asherov A, Nisipeanu P, Codère F, Bouchard JP, Fardeau M, Tomé FM, Rouleau GA. Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease. Annals of Neurology. 46: 115-8. PMID 10401788 DOI: 10.1002/1531-8249(199907)46:1<115::Aid-Ana17>3.0.Co;2-O |
0.541 |
|
| 1999 |
Mezei MM, Mankodi A, Brais B, Marineau C, Thornton CA, Rouleau GA, Karpati G. Minimal expansion of the GCG repeat in the PABP2 gene does not predispose to sporadic inclusion body myositis. Neurology. 52: 669-70. PMID 10025815 DOI: 10.1212/Wnl.52.3.669 |
0.515 |
|
| 1998 |
Feit H, Silbergleit A, Schneider LB, Gutierrez JA, Fitoussi RP, Réyès C, Rouleau GA, Brais B, Jackson CE, Beckmann JS, Seboun E. Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31. American Journal of Human Genetics. 63: 1732-42. PMID 9837826 DOI: 10.1086/302166 |
0.512 |
|
| 1998 |
Xie YG, Rochefort D, Brais B, Howard H, Han FY, Gou LP, Maciel P, The BT, Larsson C, Rouleau GA. Restriction map of a YAC and cosmid contig encompassing the oculopharyngeal muscular dystrophy candidate region on chromosome 14q11.2-q13. Genomics. 52: 201-4. PMID 9782086 DOI: 10.1006/Geno.1998.5421 |
0.618 |
|
| 1998 |
Brais B, Bouchard JP, Xie YG, Rochefort DL, Chrétien N, Tomé FM, Lafrenière RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nature Genetics. 18: 164-7. PMID 9462747 DOI: 10.1038/Ng0298-164 |
0.621 |
|
| 1997 |
Mathieu J, Lapointe G, Brassard A, Tremblay C, Brais B, Rouleau GA, Bouchard JP. A pilot study on upper esophageal sphincter dilatation for the treatment of dysphagia in patients with oculopharyngeal muscular dystrophy. Neuromuscular Disorders : Nmd. 7: S100-4. PMID 9392026 DOI: 10.1016/S0960-8966(97)00092-8 |
0.408 |
|
| 1997 |
Brais B, Bouchard JP, Gosselin F, Xie YG, Fardeau M, Tomé FM, Rouleau GA. Using the full power of linkage analysis in 11 French Canadian families to fine map the oculopharyngeal muscular dystrophy gene. Neuromuscular Disorders : Nmd. 7: S70-4. PMID 9392020 DOI: 10.1016/S0960-8966(97)00086-2 |
0.427 |
|
| 1997 |
Bouchard JP, Brais B, Brunet D, Gould PV, Rouleau GA. Recent studies on oculopharyngeal muscular dystrophy in Québec. Neuromuscular Disorders : Nmd. 7: S22-9. PMID 9392011 DOI: 10.1016/S0960-8966(97)00077-1 |
0.453 |
|
| 1997 |
Neetens A, Martin JJ, Brais B, Wein B, Dreuw B, Tijssen CC, Ceuterick C. Oculopharyngeal muscular dystrophy (OPMD) Neuro-Ophthalmology. 17: 189-200. DOI: 10.3109/01658109709044665 |
0.327 |
|
| 1997 |
Uyama E, Tokunaga M, Chateau D, Tomé FMS, Brais B, Uchino M. Autosomal recessive oculopharyngodistal myopathy in a Japanese family: investigations in light of distal myopathy with rimmed vacuoles and OPMD Neuromuscular Disorders. 7: 463. DOI: 10.1016/S0960-8966(97)87309-9 |
0.335 |
|
| 1997 |
Blumen S, Brais B, Korczyn A, Chapman J, Asherov A, Medynski S, Rouleau G. 1-29-03 The gene for oculopharyngeal muscular dystrophy in a cluster of Bukhara Jews living in Israel also maps to chromosome 14q11.2-q13 Journal of the Neurological Sciences. 150: S40. DOI: 10.1016/S0022-510X(97)85027-7 |
0.417 |
|
| 1996 |
Kibar Z, Der Kaloustian VM, Brais B, Hani V, Fraser FC, Rouleau GA. The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. Human Molecular Genetics. 5: 543-7. PMID 8845850 DOI: 10.1093/Hmg/5.4.543 |
0.397 |
|
| 1996 |
Creel G, Giuliani M, Brais B, Rouleau G. Oculopharyngeal muscular dystrophy: pedigrees unrelated to French Canada Electroencephalography and Clinical Neurophysiology. 98: P16-P17. DOI: 10.1016/0013-4694(96)80294-X |
0.302 |
|
| 1995 |
Brais B, Xie YG, Sanson M, Morgan K, Weissenbach J, Korczyn AD, Blumen SC, Fardeau M, Tomé FM, Bouchard JP. The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13. Human Molecular Genetics. 4: 429-34. PMID 7795598 DOI: 10.1093/Hmg/4.3.429 |
0.325 |
|
| Show low-probability matches. |