From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay

by Cynthia Gagnon, Bernard Brais, Isabelle Lessard, Caroline Lavoie, Isabelle Côté, Jean Mathieu
Published 2018-09-01

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

by Matthieu Y. Pasco, Hélène Catoire, J. Alex Parker, Bernard Brais, Guy A. Rouleau, Christian Néri
Published 2010-06-01

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

by Fulya Akçimen, Fulya Akçimen, Jay P. Ross, Jay P. Ross, Cynthia V. Bourassa, Calwing Liao, Calwing Liao, Daniel Rochefort, Maria Thereza Drumond Gama, Marie-Josée Dicaire, Orlando G. Barsottini, Bernard Brais, Bernard Brais, Bernard Brais, José Luiz Pedroso, Patrick A. Dion, Patrick A. Dion, Guy A. Rouleau, Guy A. Rouleau, Guy A. Rouleau
Published 2019-11-01

RNA Polymerase III Subunit Mutations in Genetic Diseases

by Elisabeth Lata, Karine Choquet, Francis Sagliocco, Bernard Brais, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Martin Teichmann
Published 2021-07-01

High-Throughput Screening for Ligands of the HEPN Domain of Sacsin.

by Xinlu Li, Marie Ménade, Guennadi Kozlov, Zheping Hu, Zheng Dai, Peter S McPherson, Bernard Brais, Kalle Gehring
Published 2015-01-01

Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy

by Christiane Messaed, Patrick A. Dion, Aida Abu-Baker, Daniel Rochefort, Janet Laganiere, Bernard Brais, Guy A. Rouleau
Published 2007-06-01

Sacs R272C missense homozygous mice develop an ataxia phenotype

by Roxanne Larivière, Nicolas Sgarioto, Brenda Toscano Márquez, Rébecca Gaudet, Karine Choquet, R. Anne McKinney, Alanna J. Watt, Bernard Brais
Published 2019-03-01

The dynamism of PABPN1 nuclear inclusions during the cell cycle

by A. Marie-Josée Sasseville, Antoine W. Caron, Lucie Bourget, Arnaud F. Klein, Marie-Josée Dicaire, Guy A. Rouleau, Bernard Massie, Yves Langelier, Bernard Brais
Published 2006-09-01

The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis

by Karine Choquet, Maxime Pinard, Sharon Yang, Robyn D. Moir, Christian Poitras, Marie-Josée Dicaire, Nicolas Sgarioto, Roxanne Larivière, Claudia L. Kleinman, Ian M. Willis, Marie-Soleil Gauthier, Benoit Coulombe, Bernard Brais
Published 2019-06-01

Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice

by Patrick Dion, Vijayalakshmi Shanmugam, Claudia Gaspar, Christiane Messaed, Inge Meijer, André Toulouse, Janet Laganiere, Julie Roussel, Daniel Rochefort, Simon Laganiere, Carol Allen, George Karpati, Jean-Pierre Bouchard, Bernard Brais, Guy A. Rouleau
Published 2005-04-01

PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions

by Louis-Philippe Corbeil-Girard, Arnaud F. Klein, A. Marie-Josée Sasseville, Hugo Lavoie, Marie-Josée Dicaire, Anik Saint-Denis, Martin Pagé, André Duranceau, François Codère, Jean-Pierre Bouchard, George Karpati, Guy A. Rouleau, Bernard Massie, Yves Langelier, Bernard Brais
Published 2005-04-01

Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation

by Karine Choquet, Sharon Yang, Robyn D. Moir, Diane Forget, Roxanne Larivière, Annie Bouchard, Christian Poitras, Nicolas Sgarioto, Marie-Josée Dicaire, Forough Noohi, Timothy E. Kennedy, Joseph Rochford, Geneviève Bernard, Martin Teichmann, Benoit Coulombe, Ian M. Willis, Claudia L. Kleinman, Bernard Brais
Published 2017-04-01

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.

by Vafa Bayat, Isabelle Thiffault, Manish Jaiswal, Martine Tétreault, Taraka Donti, Florin Sasarman, Geneviève Bernard, Julie Demers-Lamarche, Marie-Josée Dicaire, Jean Mathieu, Michel Vanasse, Jean-Pierre Bouchard, Marie-France Rioux, Charles M Lourenco, Zhihong Li, Claire Haueter, Eric A Shoubridge, Brett H Graham, Bernard Brais, Hugo J Bellen
Published 2012-01-01

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

by Andreas Traschütz, Andreas Traschütz, Selina Reich, Selina Reich, Astrid D. Adarmes, Astrid D. Adarmes, Mathieu Anheim, Mathieu Anheim, Mathieu Anheim, Mahmoud Reza Ashrafi, Jonathan Baets, Jonathan Baets, Jonathan Baets, A. Nazli Basak, Enrico Bertini, Bernard Brais, Cynthia Gagnon, Janina Gburek-Augustat, Hasmet A. Hanagasi, Anna Heinzmann, Rita Horvath, Peter de Jonghe, Peter de Jonghe, Peter de Jonghe, Christoph Kamm, Peter Klivenyi, Thomas Klopstock, Thomas Klopstock, Thomas Klopstock, Martina Minnerop, Martina Minnerop, Martina Minnerop, Alexander Münchau, Mathilde Renaud, Mathilde Renaud, Richard H. Roxburgh, Richard H. Roxburgh, Filippo M. Santorelli, Tommaso Schirinzi, Tommaso Schirinzi, Deborah A. Sival, Dagmar Timmann, Stefan Vielhaber, Stefan Vielhaber, Stefan Vielhaber, Michael Wallner, Bart P. van de Warrenburg, Ginevra Zanni, Stephan Zuchner, Thomas Klockgether, Thomas Klockgether, Rebecca Schüle, Rebecca Schüle, Ludger Schöls, Ludger Schöls, PREPARE Consortium, Matthis Synofzik, Matthis Synofzik
Published 2021-06-01