Search Results - "Dicaire, M."

Diversity of ARSACS mutations in French-Canadians by 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

“…The growing number of spastic ataxia of Charlevoix-Saguenay (SACS) gene mutations reported worldwide has broadened the clinical phenotype of autosomal…”
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A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians by ROSSIGNOL, E, MATHIEU, J, THIFFAULT, I, TETREAULT, M, DICAIRE, M.-J, CHRESTIAN, N, DUPRE, N, PUYMIRAT, J, BRAIS, B

“…Myotonia is observed in classic congenital myotonia caused by CLCN1 mutations and in sodium-channel myotonia (SCM) due to SCN4A mutations. We assessed 66…”
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A missense mutation in the putative sarcoplasmic reticulum transmembrane protein DCST2 causes dominant strongman syndrome by Brais, B, Conte, T, Dicaire, M, Tetreault, M, O'Ferrall, E, Ravenscroft, G, Laing, N, Lamont, P, Taivasssalo, T, Hepple, R, Mathieu, J

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Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians by RODDIER, K, THOMAS, T, VANASSE, M, GAUDET, D, ROULEAU, G. A, BRAIS, B, MARLEAU, G, GAGNON, A. M, DICAIRE, M. J, ST.-DENIS, A, GOSSELIN, I, SARRAZIN, A. M, LARBRISSEAU, A, LAMBERT, M

“…Hereditary sensory and autonomic neuropathy type 2 (HSAN2; MIM 201300) is a rare recessive neuropathy typically diagnosed in the first decade. The 1973 study…”
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Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains by Lavoie, Hugo, Debeane, François, Trinh, Quoc-Dien, Turcotte, Jean-François, Corbeil-Girard, Louis-Philippe, Dicaire, Marie-Josée, Saint-Denis, Anik, Pagé, Martin, Rouleau, Guy A., Brais, Bernard

“…Mutations causing expansions of polyalanine domains are responsible for nine hereditary diseases. Other GC-rich sequences coding for some polyalanine domains…”
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FP.32 BAG3 p.P209L variant leads to changes in nuclear and actomyosin dynamics and impairment of the transmission of mechanical signals by Robertson, R., Dicaire, M., Lavoie, J., Brais, B.

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OTHER NMDs: EP.357 Nuclear envelope involvement in BAG3 myofibrillar myopathy by Robertson, R., Dicaire, M., Chabaytah, N., Lavoie, J., Brais, B.

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OTHER NMDs by Robertson, R., Dicaire, M., Chabaytah, N., Lavoie, J., Brais, B.

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Na magic-angle spinning and double-rotation NMR study of solid forms of sodium valproate by Dicaire, Nuiok M, Perras, Frederic A, Bryce, David L

“…Sodium valproate is a pharmaceutical with applications in the treatment of epilepsy, bipolar disorder, and other ailments. Sodium valproate can exist in many…”
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Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia by Pellerin, David, Danzi, Matt C., Wilke, Carlo, Renaud, Mathilde, Fazal, Sarah, Dicaire, Marie-Josée, Scriba, Carolin K., Ashton, Catherine, Yanick, Christopher, Beijer, Danique, Rebelo, Adriana, Rocca, Clarissa, Jaunmuktane, Zane, Sonnen, Joshua A., Larivière, Roxanne, Genís, David, Molina Porcel, Laura, Choquet, Karine, Sakalla, Rawan, Provost, Sylvie, Robertson, Rebecca, Allard-Chamard, Xavier, Tétreault, Martine, Reiling, Sarah J., Nagy, Sara, Nishadham, Vikas, Purushottam, Meera, Vengalil, Seena, Bardhan, Mainak, Nalini, Atchayaram, Chen, Zhongbo, Mathieu, Jean, Massie, Rami, Chalk, Colin H., Lafontaine, Anne-Louise, Evoy, François, Rioux, Marie-France, Ragoussis, Jiannis, Boycott, Kym M., Dubé, Marie-Pierre, Duquette, Antoine, Houlden, Henry, Ravenscroft, Gianina, Laing, Nigel G., Lamont, Phillipa J., Saporta, Mario A., Schüle, Rebecca, Schöls, Ludger, La Piana, Roberta, Synofzik, Matthis, Zuchner, Stephan, Brais, Bernard

“…In this study, a large repeat expansion in a noncoding part of FGF14 was found to cause late-onset cerebellar ataxia, which underscores the importance of…”
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Intronic GAA-FGF14 Expansion in an italian patient presenting with early-onset cerebellar ataxia by Mitrotti, P., Avenali, M., Vegezzi, E., Zangaglia, R., Cortese, A., Currò, R., Pellerin, D., Dicaire, M.-J., Brais, B., Palmieri, I., Gana, S., Valente, E.M.

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Frequency of GAA-FGF14 ataxia in a large cohort of Brazilian patients with unsolved adult-onset cerebellar ataxia by Novis, L.E., Frezatti, R., Pellerin, D., Tomasseli, P., Alavi, S., Della Coletta, M.V., Spitz, M., Dicaire, M.-J., Iruzubieta, P., Pedroso, J.L., Barsotini, O., Danzi, M., França, M., Brais, B., Zuchner, S., Houlden, H., Raskin, S., Marques, W., Teive, H.

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P.79 - Mouse model of BAG3 myofibrillar myopathy by Robertson, R., Conte, T., Dicaire, M., Bryson-Richardson, R., Lavoie, J., O'Ferrall, E., Young, J., Brais, B.

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Mouse model of BAG3 myofibrillar myopathy by Robertson, R., Conte, T., Dicaire, M., Bryson-Richardson, R., Lavoie, J., O'Ferrall, E., Young, J., Brais, B.

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P.16 - A missense mutation in the putative sarcoplasmic reticulum transmembrane protein DCST2 causes dominant strongman syndrome by Brais, B., Conte, T., Dicaire, M., Tetreault, M., O'Ferrall, E., Ravenscroft, G., Laing, N., Lamont, P., Taivasssalo, T., Hepple, R., Mathieu, J.

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23Na magic-angle spinning and double-rotation NMR study of solid forms of sodium valproate

“…Sodium valproate is a pharmaceutical with applications in the treatment of epilepsy, bipolar disorder, and other ailments. Sodium valproate can exist in many…”
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Structural studies of sacsin by Kozlov, G., Denisov, A. Y., Trempe, J. -F., Pande, H., Girard, M., Dicaire, M. -J., McPherson, P. S., Brais, B., Gehring, K.

“…Abstract only…”
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23 Na magic-angle spinning and double-rotation NMR study of solid forms of sodium valproate by Dicaire, Nuiok M., Perras, Frédéric A., Bryce, David L.

“…Sodium valproate is a pharmaceutical with applications in the treatment of epilepsy, bipolar disorder, and other ailments. Sodium valproate can exist in many…”
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sup 23^Na magic-angle spinning and double-rotation NMR study of solid forms of sodium valproate by Dicaire, Nuiok M, Perras, Frédéric A, Bryce, David L

“…Sodium valproate is a pharmaceutical with applications in the treatment of epilepsy, bipolar disorder, and other ailments. Sodium valproate can exist in many…”
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Monoclonal 3C6F9 distribution in human breast carcinomas: image cytometry of immunocytochemical assays by Charpin, C, Dicaire, M J, Barbeau, B, Lavaut, M N, Andonian, C, Devictor, B, Allasia, C, Bonnier, P, Mandeville, R

“…MoAbF9 immunoreactivity was investigated in frozen sections of 123 breast carcinomas using an avidin or streptavidin biotin peroxidase kit. A standardized…”
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