检索结果 - Bernard Brais

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  1. 1
    Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death

    Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death 由 Xueping Fan, Patrick A. Dion, Janet Laganière, Bernard Brais, Guy A. Rouleau

    出版 2001
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  2. 2
    RNA Polymerase III Subunit Mutations in Genetic Diseases

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

    出版 2021
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  3. 3
    Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

    Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia 由 David Pellerin, Matt C. Danzi, M. Renaud, Henry Houlden, Matthis Synofzik, Stephan Züchner, Bernard Brais

    出版 2024
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  4. 4
    Population history and its impact on medical genetics in Quebec

    Population history and its impact on medical genetics in Quebec 由 A‐M Laberge, Jacques L. Michaud, Andréa Richter, Emmanuelle Lemyre, M Lambert, Bernard Brais, GA Mitchell

    出版 2005
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  5. 5
    Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA

    Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA 由 Ângelo Calado, Fernando M.S. Tomé, Bernard Brais, Guy A. Rouleau, Uwe Kühn, Elmar Wahle, Maria Carmo‐Fonseca

    出版 2000
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  6. 6
    Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/β-catenin pathway

    Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/β-catenin pathway 由 Ayman AbuBaker, Janet Laganière, Rébecca Gaudet, Daniel Rochefort, Bernard Brais, Christian Néri, Patrick A. Dion, Guy A. Rouleau

    出版 2013
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  7. 7
    As Frequent as Polyglutamine Spinocerebellar Ataxias: <scp>SCA27B</scp> in a Large German Autosomal Dominant Ataxia Cohort

    As Frequent as Polyglutamine Spinocerebellar Ataxias: <scp>SCA27B</scp> in a Large German Autosomal Dominant Ataxia Cohort 由 Holger Hengel, David Pellerin, Carlo Wilke, Zofia Fleszar, Bernard Brais, Tobias B. Haack, Andreas Traschütz, Lüdger Schöls, Matthis Synofzik

    出版 2023
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  8. 8
    Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model

    Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model 由 Andrea Del Bondio, Fabiana Longo, Daniele De Ritis, Erica Spirito, Paola Podini, Bernard Brais, Angela Bachi, Angelo Quattrini, Francesca Maltecca

    出版 2023
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  9. 9
    Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

    Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) 由 Guennadi Kozlov, A. Yu. Denisov, Martine Girard, Marie‐Josée Dicaire, Jason N. R. Hamlin, Peter S. McPherson, Bernard Brais, Kalle Gehring

    出版 2011
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  10. 10
    Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

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

    出版 2011
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  11. 11
    Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1

    Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1 由 Hélène Catoire, Matthieu Y. Pasco, Aida Abu‐Baker, Sébastien Holbert, Cendrine Tourette, Bernard Brais, Guy A. Rouleau, J. Alex Parker, Christian Néri

    出版 2008
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  12. 12
    Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics

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

    出版 2018
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  13. 13
    Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains

    Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains 由 Hugo Lavoie, François Debeane, Quoc‐Dien Trinh, J Turcotte, Louis-Philippe Corbeil-Girard, Marie‐Josée Dicaire, Anik Saint-Denis, Martin Pagé, Guy A. Rouleau, Bernard Brais

    出版 2003
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  14. 14
    Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200

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

    出版 2019
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  15. 15
    Vocal Cord and Pharyngeal Weakness with Autosomal Dominant Distal Myopathy: Clinical Description and Gene Localization to 5q31

    Vocal Cord and Pharyngeal Weakness with Autosomal Dominant Distal Myopathy: Clinical Description and Gene Localization to 5q31 由 Howard Feit, Alice K. Silbergleit, Lori B. Schneider, J. Antonio Gutierrez, Reine-Paule Fitoussi, Cécile Réyès, Guy A. Rouleau, Bernard Brais, Charles E. Jackson, J. Beckmann, Eric Seboun

    出版 1998
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  16. 16
    Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

    Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy 由 Antoine Duquette, Katel Roddier, Julia McNabb‐Baltar, Isabelle Gosselin, Anik St‐Denis, Marie‐Josée Dicaire, Lina Loisel, Damian Labuda, Luc Marchand, Jean Mathieu, Jean‐Pierre Bouchard, Bernard Brais

    出版 2005
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  17. 17
    Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa

    Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa 由 Anjali M. Rajadhyaksha, Olivier Elemento, Erik G. Puffenberger, Kathryn C. Schierberl, Jenny Xiang, Maria Lisa Putorti, José Berciano, Chantal Poulin, Bernard Brais, Michel Michaelides, Richard G. Weleber, Joseph Higgins

    出版 2010
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  18. 18
    Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients

    Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients 由 Catherine Ashton, Elisabetta Indelicato, David Pellerin, Guillemette Clément, Matt C. Danzi, Marie‐Josée Dicaire, Céline Bonnet, Henry Houlden, Stephan Züchner, Matthis Synofzik, Phillipa J. Lamont, M. Renaud, Sylvia Boesch, Bernard Brais

    出版 2023
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  19. 19
    SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

    SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases 由 Karine Choquet, Martine Tétreault, Sharon Yang, Roberta La Piana, Marie- Josée Dicaire, Megan R. Vanstone, Jean Mathieu, Jean‐Pierre Bouchard, Marie‐France Rioux, Guy A. Rouleau, Kym M. Boycott, Jacek Majewski, Bernard Brais

    出版 2015
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  20. 20
    Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay

    Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay 由 Roxanne Larivière, Rébecca Gaudet, Benoît J. Gentil, Martine Girard, Talita C. Conte, Sandra Minotti, Kim Leclerc-Desaulniers, Kalle Gehring, R. Anne McKinney, Eric A. Shoubridge, Peter S. McPherson, Heather D. Durham, Bernard Brais

    出版 2014
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