La neurogénétique au Québec: de l'histoire à la découverte von Brais, Bernard

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Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200 von Choquet, Karine, Forget, Diane, Meloche, Elisabeth, Dicaire, Marie-Josée, Bernard, Geneviève, Vanderver, Adeline, Schiffmann, Raphael, Fabian, Marc R., Teichmann, Martin, Coulombe, Benoit, Brais, Bernard, Kleinman, Claudia L.

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Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III von Thiffault, Isabelle, Wolf, Nicole I., Forget, Diane, Guerrero, Kether, Tran, Luan T., Choquet, Karine, Lavallée-Adam, Mathieu, Poitras, Christian, Brais, Bernard, Yoon, Grace, Sztriha, Laszlo, Webster, Richard I., Timmann, Dagmar, van de Warrenburg, Bart P., Seeger, Jürgen, Zimmermann, Alíz, Máté, Adrienn, Goizet, Cyril, Fung, Eva, van der Knaap, Marjo S., Fribourg, Sébastien, Vanderver, Adeline, Simons, Cas, Taft, Ryan J., Yates III, John R., Coulombe, Benoit, Bernard, Geneviève

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Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B) von Wirth, Thomas, Clément, Guillemette, Delvallée, Clarisse, Bonnet, Céline, Bogdan, Thomas, Iosif, Andra, Schalk, Audrey, Chanson, Jean-Baptiste, Pellerin, David, Brais, Bernard, Roth, Virginie, Wandzel, Marion, Fleury, Marie-Céline, Piton, Amélie, Calmels, Nadège, Namer, Izzie Jacques, Kremer, Stéphane, Tranchant, Christine, Renaud, Mathilde, Anheim, Mathieu

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Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy von Bernard, Geneviève, Chouery, Eliane, Putorti, Maria Lisa, Tétreault, Martine, Takanohashi, Asako, Carosso, Giovanni, Clément, Isabelle, Boespflug-Tanguy, Odile, Rodriguez, Diana, Delague, Valérie, Abou Ghoch, Joelle, Jalkh, Nadine, Dorboz, Imen, Fribourg, Sebastien, Teichmann, Martin, Megarbane, André, Schiffmann, Raphael, Vanderver, Adeline, Brais, Bernard

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Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome von Tremblay, Marjolaine, Girard-Côté, Laura, Brais, Bernard, Gagnon, Cynthia

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Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy von Tétreault, Martine, Choquet, Karine, Orcesi, Simona, Tonduti, Davide, Balottin, Umberto, Teichmann, Martin, Fribourg, Sébastien, Schiffmann, Raphael, Brais, Bernard, Vanderver, Adeline, Bernard, Geneviève

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Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics von Gentil, Benoit J., Lai, Gia-Thanh, Menade, Marie, Larivière, Roxanne, Minotti, Sandra, Gehring, Kalle, Chapple, J.-Paul, Brais, Bernard, Durham, Heather D.

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Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B von Bonnet, Céline, Pellerin, David, Roth, Virginie, Clément, Guillemette, Wandzel, Marion, Lambert, Laëtitia, Frismand, Solène, Douarinou, Marian, Grosset, Anais, Bekkour, Ines, Weber, Frédéric, Girardier, Florent, Robin, Clément, Cacciatore, Stéphanie, Bronner, Myriam, Pourié, Carine, Dreumont, Natacha, Puisieux, Salomé, Iruzubieta, Pablo, Dicaire, Marie-Josée, Evoy, François, Rioux, Marie-France, Hocquel, Armand, La Piana, Roberta, Synofzik, Matthis, Houlden, Henry, Danzi, Matt C., Zuchner, Stephan, Brais, Bernard, Renaud, Mathilde

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RNA Polymerase III Subunit Mutations in Genetic Diseases von Lata, Elisabeth, Choquet, Karine, Sagliocco, Francis, Brais, Bernard, Bernard, Genevieve, Teichmann, Martin

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Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay von Duquette, Antoine, Brais, Bernard, Bouchard, Jean-Pierre, Mathieu, Jean

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From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay von Gagnon, Cynthia, Brais, Bernard, Lessard, Isabelle, Lavoie, Caroline, Côté, Isabelle, Mathieu, Jean

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Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies von Bolduc, Véronique, Marlow, Gareth, Boycott, Kym M., Saleki, Khalil, Inoue, Hiroshi, Kroon, Johan, Itakura, Mitsuo, Robitaille, Yves, Parent, Lucie, Baas, Frank, Mizuta, Kuniko, Kamata, Nobuyuki, Richard, Isabelle, Linssen, Wim H.J.P., Mahjneh, Ibrahim, de Visser, Marianne, Bashir, Rumaisa, Brais, Bernard

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Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B) von Abou Chaar, Widad, Eranki, Anirudh N, Stevens, Hannah A, Watson, Sonya L, Wong, Darice Y, Avila, Veronica S, Delfeld, Megan, Gary, Alexander J, Tawde, Sanjukta, Triebold, Malia, Cherchi, Marcello, Xie, Tao, Lockhart, Paul J, Bahlo, Melanie, Pellerin, David, Dicaire, Marie-Josée, Danzi, Matt, Zuchner, Stephan, Brais, Bernard C, Perlman, Susan, Burmeister, Margit, Paulson, Henry, Srinivasan, Sharan, Schut, Lawrence, Bower, Matthew, Bushara, Khalaf, Liao, Chuanhong, Shakkottai, Vikram G, Collins, John, Clark, H Brent, Das, Soma, Fogel, Brent L, Gomez, Christopher M

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Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans von Bayat, Vafa, Thiffault, Isabelle, Jaiswal, Manish, Tétreault, Martine, Donti, Taraka, Sasarman, Florin, Bernard, Geneviève, Demers-Lamarche, Julie, Dicaire, Marie-Josée, Mathieu, Jean, Vanasse, Michel, Bouchard, Jean-Pierre, Rioux, Marie-France, Lourenco, Charles M, Li, Zhihong, Haueter, Claire, Shoubridge, Eric A, Graham, Brett H, Brais, Bernard, Bellen, Hugo J

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The J Domain of Sacsin Disrupts Intermediate Filament Assembly von Dabbaghizadeh, Afrooz, Paré, Alexandre, Cheng-Boivin, Zacharie, Dagher, Robin, Minotti, Sandra, Dicaire, Marie-Josée, Brais, Bernard, Young, Jason C, Durham, Heather D, Gentil, Benoit J

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Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations von Akçimen, Fulya, Ross, Jay P, Bourassa, Cynthia V, Liao, Calwing, Rochefort, Daniel, Gama, Maria Thereza Drumond, Dicaire, Marie-Josée, Barsottini, Orlando G, Brais, Bernard, Pedroso, José Luiz, Dion, Patrick A, Rouleau, Guy A

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Valproic acid is protective in cellular and worm models of oculopharyngeal muscular dystrophy von Abu-Baker, Aida, Parker, Alex, Ramalingam, Siriram, Laganiere, Janet, Brais, Bernard, Neri, Christian, Dion, Patrick, Rouleau, Guy

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KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2 von Rivière, Jean-Baptiste, Ramalingam, Siriram, Lavastre, Valérie, Shekarabi, Masoud, Holbert, Sébastien, Lafontaine, Julie, Srour, Myriam, Merner, Nancy, Rochefort, Daniel, Hince, Pascale, Gaudet, Rébecca, Mes-Masson, Anne-Marie, Baets, Jonathan, Houlden, Henry, Brais, Bernard, Nicholson, Garth A., Van Esch, Hilde, Nafissi, Shahriar, De Jonghe, Peter, Reilly, Mary M., Timmerman, Vincent, Dion, Patrick A., Rouleau, Guy A.

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Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) von Girard, Martine, Larivière, Roxanne, Parfitt, David A., Deane, Emily C., Gaudet, Rebecca, Nossova, Nadya, Blondeau, Francois, Prenosil, George, Vermeulen, Esmeralda G. M., Duchen, Michael R., Richter, Andrea, Shoubridge, Eric A., Gehring, Kalle, McKinney, R. Anne, Brais, Bernard, Chapple, J. Paul, McPherson, Peter S.

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