Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200
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.
Published in The Journal of biological chemistry (03.05.2019)
Published in The Journal of biological chemistry (03.05.2019)
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Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
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Published in Scientific reports (15.06.2023)
Published in Scientific reports (15.06.2023)
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Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics
Gentil, Benoit J, Lai, Gia-Thanh, Menade, Marie, Larivière, Roxanne, Minotti, Sandra, Gehring, Kalle, Chapple, J-Paul, Brais, Bernard, Durham, Heather D
Published in The FASEB journal (01.02.2019)
Published in The FASEB journal (01.02.2019)
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Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
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, 3rd, John R, Coulombe, Benoit, Bernard, Geneviève
Published in Nature communications (07.07.2015)
Published in Nature communications (07.07.2015)
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Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
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
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy
Tétreault, Martine, Choquet, Karine, Orcesi, Simona, Tonduti, Davide, Balottin, Umberto, Teichmann, Martin, Fribourg, Sébastien, Schiffmann, Raphael, Brais, Bernard, Vanderver, Adeline, Bernard, Geneviève
Published in American journal of human genetics (11.11.2011)
Published in American journal of human genetics (11.11.2011)
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Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia ( SCA27B )
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.
Published in Annals of neurology (12.09.2024)
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From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay
Gagnon, Cynthia, Brais, Bernard, Lessard, Isabelle, Lavoie, Caroline, Côté, Isabelle, Mathieu, Jean
Published in Orphanet journal of rare diseases (19.09.2018)
Published in Orphanet journal of rare diseases (19.09.2018)
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RNA Polymerase III Subunit Mutations in Genetic Diseases
Lata, Elisabeth, Choquet, Karine, Sagliocco, Francis, Brais, Bernard, Bernard, Geneviève, Teichmann, Martin
Published in Frontiers in molecular biosciences (30.07.2021)
Published in Frontiers in molecular biosciences (30.07.2021)
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Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay
Duquette, Antoine, Brais, Bernard, Bouchard, Jean-Pierre, Mathieu, Jean
Published in Movement disorders (01.12.2013)
Published in Movement disorders (01.12.2013)
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Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies
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
Published in American journal of human genetics (12.02.2010)
Published in American journal of human genetics (12.02.2010)
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The J Domain of Sacsin Disrupts Intermediate Filament Assembly
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
Published in International journal of molecular sciences (12.12.2022)
Published in International journal of molecular sciences (12.12.2022)
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Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations
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
Published in Frontiers in genetics (22.11.2019)
Published in Frontiers in genetics (22.11.2019)
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KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2
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.
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
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Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
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.
Published in Proceedings of the National Academy of Sciences - PNAS (31.01.2012)
Published in Proceedings of the National Academy of Sciences - PNAS (31.01.2012)
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Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans
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
Published in PLoS biology (01.03.2012)
Published in PLoS biology (01.03.2012)
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