Ngā hua rapu - Bernard Brais

Whakamahine hua
  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 mā Xueping Fan, Patrick A. Dion, Janet Laganière, Bernard Brais, Guy A. Rouleau

    I whakaputaina 2001
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  2. 2
    RNA Polymerase III Subunit Mutations in Genetic Diseases

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

    I whakaputaina 2021
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
    Tiaki ki tētahi rārangi
    I tiakina i:
  3. 3
    Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

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

    I whakaputaina 2024
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
    Tiaki ki tētahi rārangi
    I tiakina i:
  4. 4
    Population history and its impact on medical genetics in Quebec

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

    I whakaputaina 2005
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā Ângelo Calado, Fernando M.S. Tomé, Bernard Brais, Guy A. Rouleau, Uwe Kühn, Elmar Wahle, Maria Carmo‐Fonseca

    I whakaputaina 2000
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā Ayman AbuBaker, Janet Laganière, Rébecca Gaudet, Daniel Rochefort, Bernard Brais, Christian Néri, Patrick A. Dion, Guy A. Rouleau

    I whakaputaina 2013
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā Holger Hengel, David Pellerin, Carlo Wilke, Zofia Fleszar, Bernard Brais, Tobias B. Haack, Andreas Traschütz, Lüdger Schöls, Matthis Synofzik

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Carta
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā Andrea Del Bondio, Fabiana Longo, Daniele De Ritis, Erica Spirito, Paola Podini, Bernard Brais, Angela Bachi, Angelo Quattrini, Francesca Maltecca

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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) mā Guennadi Kozlov, A. Yu. Denisov, Martine Girard, Marie‐Josée Dicaire, Jason N. R. Hamlin, Peter S. McPherson, Bernard Brais, Kalle Gehring

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā Martine Tétreault, Karine Choquet, Simona Orcesi, Davide Tonduti, Umberto Balottin, Martin Teichmann, Sébastien Fribourg, Raphael Schiffmann, Bernard Brais, Adeline Vanderver, Geneviève Bernard

    I whakaputaina 2011
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  11. 11
    Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1

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

    I whakaputaina 2008
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā Benoît J. Gentil, Gia-Thanh Lai, Marie Ménade, Roxanne Larivière, Sandra Minotti, Kalle Gehring, J. Paul Chapple, Bernard Brais, Heather D. Durham

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā 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

    I whakaputaina 2003
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā 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

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā 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

    I whakaputaina 1998
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  16. 16
    Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

    Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy mā 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

    I whakaputaina 2005
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  17. 17
    Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa

    Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa mā 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

    I whakaputaina 2010
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  18. 18
    Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients

    Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients mā 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

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā 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

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā 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

    I whakaputaina 2014
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:

Ngā utauta rapu: