Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
Sawyer, S.L., Hartley, T., Dyment, D.A., Beaulieu, C.L., Schwartzentruber, J., Smith, A., Bedford, H.M., Bernard, G., Bernier, F.P., Brais, B., Bulman, D.E., Warman Chardon, J., Chitayat, D., Deladoëy, J., Fernandez, B.A., Frosk, P., Geraghty, M.T., Gerull, B., Gibson, W., Gow, R.M., Graham, G.E., Green, J.S., Heon, E., Horvath, G., Innes, A.M., Jabado, N., Kim, R.H., Koenekoop, R.K., Khan, A., Lehmann, O.J., Mendoza-Londono, R., Michaud, J.L., Nikkel, S.M., Penney, L.S., Polychronakos, C., Richer, J., Rouleau, G.A., Samuels, M.E., Siu, V.M., Suchowersky, O., Tarnopolsky, M.A., Yoon, G., Zahir, F.R., Majewski, J., Boycott, K.M.
Published in Clinical genetics (01.03.2016)
Published in Clinical genetics (01.03.2016)
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Spinocerebellar ataxia 27B (SCA27B), a frequent late-onset cerebellar ataxia
Clément, G., Puisieux, S., Pellerin, D., Brais, B., Bonnet, C., Renaud, M.
Published in Revue neurologique (01.05.2024)
Published in Revue neurologique (01.05.2024)
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Diagnostic anoctamin‐5 protein defect in patients with ANO5‐mutated muscular dystrophy
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.
Published in Neuropathology and applied neurobiology (01.08.2018)
Published in Neuropathology and applied neurobiology (01.08.2018)
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Population history and its impact on medical genetics in Quebec
Laberge, A-M, Michaud, J, Richter, A, Lemyre, E, Lambert, M, Brais, B, Mitchell, GA
Published in Clinical genetics (01.10.2005)
Published in Clinical genetics (01.10.2005)
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Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/β-catenin pathway
Abu-Baker, A, Laganiere, J, Gaudet, R, Rochefort, D, Brais, B, Neri, C, Dion, P A, Rouleau, G A
Published in Cell death & disease (01.10.2013)
Published in Cell death & disease (01.10.2013)
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Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study
Dermer, E, Spahr, A, Tran, L T, Mirchi, A, Pelletier, F, Guerrero, K, Ahmed, S, Brais, B, Braverman, N, Buhas, D, Chandratre, S, Chenier, S, Chrestian, N, Desmeules, M, Dilenge, M E, Laflamme, J, Larbrisseau, A, Legault, G, Lim, K Y, Maftei, C, Major, P, Malvey-Dorn, E, Marois, P, Mitchell, J, Nadeau, A, Osterman, B, Paradis, I, Pohl, D, Reggin, J, Riou, E, Roedde, G, Rossignol, E, Sébire, G, Shevell, M, Srour, M, Sylvain, M, Tarnopolsky, M, Venkateswaran, S, Sullivan, M, Bernard, G
Published in Journal of child neurology (01.11.2020)
Published in Journal of child neurology (01.11.2020)
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Diversity of ARSACS mutations in French-Canadians
Thiffault, I, Dicaire, M J, Tetreault, M, Huang, K N, Demers-Lamarche, J, Bernard, G, Duquette, A, Larivière, R, Gehring, K, Montpetit, A, McPherson, P S, Richter, A, Montermini, L, Mercier, J, Mitchell, G A, Dupré, N, Prévost, C, Bouchard, J P, Mathieu, J, Brais, B
Published in Canadian journal of neurological sciences (01.01.2013)
Published in Canadian journal of neurological sciences (01.01.2013)
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Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA
CALADO, Angelo, TOME, Fernando M. S, BRAIS, Bernard, ROULEAU, G. A, KÜHN, Uwe, WAHLE, Elmar, CARMO-FONSECA, Maria
Published in Human molecular genetics (22.09.2000)
Published in Human molecular genetics (22.09.2000)
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The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry
Hodgkinson, V., Lounsberry, J., M’Dahoma, S., Russell, A., Jewett, G., Benstead, T., Brais, B., Campbell, C., Johnston, W., Lochmüller, H., McCormick, A., Nguyen, C. T., O’Ferrall, E., Oskoui, M., Abrahao, A., Briemberg, H., Bourque, P.R., Botez, S., Cashman, N., Chapman, K., Chrestian, N., Crone, M., Dobrowolski, P., Dojeiji, S., Dowling, J. J., Dupré, N., Genge, A., Gonorazky, H., Grant, I., Hasal, S., Izenberg, A., Kalra, S., Katzberg, H., Krieger, C., Leung, E., Linassi, G., Mackenzie, A., Mah, J. K., Marrero, A., Massie, R., Matte, G., McAdam, L., McMillan, H., Melanson, M., Mezei, M. M., O’Connell, C., Pfeffer, G., Phan, C., Plamondon, S., Poulin, C., Rodrigue, X., Schellenberg, K., Selby, K., Sheriko, J., Shoesmith, C., Smith, R.G., Taillon, M., Taylor, S., Venance, S., Warman-Chardon, J., Worley, S., Zinman, L., Korngut, L.
Published in Journal of neuromuscular diseases (2021)
Published in Journal of neuromuscular diseases (2021)
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Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes
Blumen, S C, Bouchard, J-P, Brais, B, Carasso, R L, Paleacu, D, Drory, V E, Chantal, S, Blumen, N, Braverman, I
Published in Neurology (25.08.2009)
Published in Neurology (25.08.2009)
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A missense mutation in the putative sarcoplasmic reticulum transmembrane protein DCST2 causes dominant strongman syndrome
Brais, B, Conte, T, Dicaire, M, Tetreault, M, O'Ferrall, E, Ravenscroft, G, Laing, N, Lamont, P, Taivasssalo, T, Hepple, R, Mathieu, J
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Identification of a Novel Gene ( HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates
Lafrenière, Ronald G., MacDonald, Marcia L.E., Dubé, Marie-Pierre, MacFarlane, Julie, O’Driscoll, Mary, Brais, Bernard, Meilleur, Sébastien, Brinkman, Ryan R., Dadivas, Owen, Pape, Terry, Platon, Christèle, Radomski, Chris, Risler, Jenni, Thompson, Jay, Guerra-Escobio, Ana-Maria, Davar, Gudarz, Breakefield, Xandra O., Pimstone, Simon N., Green, Roger, Pryse-Phillips, William, Goldberg, Y. Paul, Younghusband, H. Banfield, Hayden, Michael R., Sherrington, Robin, Rouleau, Guy A., Samuels, Mark E.
Published in American journal of human genetics (01.05.2004)
Published in American journal of human genetics (01.05.2004)
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A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13–p12
Jarry, J., Rioux, M. F., Bolduc, V., Robitaille, Y., Khoury, V., Thiffault, I., Tétreault, M., Loisel, L., Bouchard, J. P., Brais, B.
Published in Brain (London, England : 1878) (01.02.2007)
Published in Brain (London, England : 1878) (01.02.2007)
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G.P.197
Conte, T.C, Tetreault, M, Dicaire, M.J, Provost, S.M, Al-Bustani, N, Beland, B, Dube, M.P, Bolduc, V, Srour, M, O’Ferrall, E, Bouchard, J.P, Ravenscroft, G, Laing, N, Lamont, P, Mathieu, J, Hepple, R.T, Brais, B
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34
THIFLAULT, I, RIOUX, M. F, BOUCHARD, J. P, LESAGE, J, BRAIS, B, TETREAULT, M, JARRY, J, LOISELLE, L, POIRIER, J, GROS-LOUIS, F, MATHIEU, J, VANASSE, M, ROULEAU, G. A
Published in Brain (London, England : 1878) (01.09.2006)
Published in Brain (London, England : 1878) (01.09.2006)
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Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster
Tétreault, M, Srour, M, Allyson, J, Thiffault, I, Loisel, L, Robitaille, Y, Bouchard, J P, Brais, B
Published in Canadian journal of neurological sciences (01.09.2011)
Published in Canadian journal of neurological sciences (01.09.2011)
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A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians
Rossignol, E, Mathieu, J, Thiffault, I, Tétreault, M, Dicaire, M-J, Chrestian, N, Dupré, N, Puymirat, J, Brais, B
Published in Neurology (13.11.2007)
Published in Neurology (13.11.2007)
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P2.50 Discovery of novel proteins, polyalanine and pre-B-cell leukaemia transcription factor 2 (PBX2), upregulated in inflammatory myopathies
Jackaman, C, Ravenscroft, G, Fabian, V, Lamont, P.J, Nowak, K.J, Brais, B, Laing, N.G
Published in Neuromuscular disorders : NMD (01.10.2010)
Published in Neuromuscular disorders : NMD (01.10.2010)
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