Bernard Brais

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 17

Top Topics

Peritoneal Dialysis

Intellectual Disability

Single Molecule

Top Venues

Nature genetics

Neurology. Genetics

Clinical and translational medicine

Molecular brain

This page only lists publications with an associated author ORCID identifier.

Publications

David Pellerin, Giulia F Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K Nageshwaran, Warren A Cheung, Isaac R L Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel Matos-Rodrigues, Igor Stevanovski, Carolin K Scriba, Adriana P Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril J Peter, Dan Hasson, Nadejda M Tsankova, Ken Dewar, Phillipa J Lamont, Nigel G Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, Andre Nussenzweig, Marek Napierala, Zhao Chen, Hong Jiang, Ira W Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A Eberle, Kym M Boycott, Tomi Pastinen, null null, Bernard Brais, Stephan Zuchner, Vance P Lemmon
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus. Nature genetics 56 (7) (2024)
David Pellerin, Giulia F Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K Nageshwaran, Warren A Cheung, Isaac R L Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel Matos-Rodrigues, Igor Stevanovski, Carolin K Scriba, Adriana P Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril J Peter, Dan Hasson, Nadejda M Tsankova, Ken Dewar, Phillipa J Lamont, Nigel G Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, Andre Nussenzweig, Marek Napierala, Zhao Chen, Hong Jiang, Ira W Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A Eberle, Kym M Boycott, Tomi Pastinen, null null, Bernard Brais, Stephan Zuchner, Vance P Lemmon
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus. Nature genetics (2024)
David Pellerin, Matt C Danzi, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Stephan Zuchner, Bernard Brais
Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia. Clinical and translational medicine 14 (1) (2024)
David Pellerin, Matt C Danzi, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Stephan Zuchner, Bernard Brais
Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia. Clinical and translational medicine 14 (1) (2024)
David Pellerin, Giulia F Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K Nageshwaran, Warren A Cheung, Isaac R L Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel Matos-Rodrigues, Igor Stevanovski, Carolin K Scriba, Adriana P Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril J Peter, Dan Hasson, Nadejda M Tsankova, Ken Dewar, Phillipa J Lamont, Nigel G Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, Andre Nussenzweig, Marek Napierala, Zhao Chen, Hong Jiang, Ira W Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A Eberle, Kym M Boycott, Tomi Pastinen, null null, Bernard Brais, Stephan Zuchner, Vance P Lemmon
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus. Nature genetics 56 (7) (2024)
David Pellerin, Matt C Danzi, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Stephan Zuchner, Bernard Brais
Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia. Clinical and translational medicine 14 (1) (2024)
David Pellerin, Matt C Danzi, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Stephan Zuchner, Bernard Brais
Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia. Clinical and translational medicine 14 (1) (2024)
David Pellerin, Giulia F Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K Nageshwaran, Warren A Cheung, Isaac R L Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel Matos-Rodrigues, Igor Stevanovski, Carolin K Scriba, Adriana P Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril J Peter, Dan Hasson, Nadejda M Tsankova, Ken Dewar, Phillipa J Lamont, Nigel G Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, Andre Nussenzweig, Marek Napierala, Zhao Chen, Hong Jiang, Ira W Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A Eberle, Kym M Boycott, Tomi Pastinen, null null, Bernard Brais, Stephan Zuchner, Vance P Lemmon
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus. Nature genetics (2024)
David Pellerin, Giulia F Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K Nageshwaran, Warren A Cheung, Isaac R L Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel Matos-Rodrigues, Igor Stevanovski, Carolin K Scriba, Adriana P Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril J Peter, Dan Hasson, Nadejda M Tsankova, Ken Dewar, Phillipa J Lamont, Nigel G Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, Andre Nussenzweig, Marek Napierala, Zhao Chen, Hong Jiang, Ira W Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A Eberle, Kym M Boycott, Tomi Pastinen, null null, Bernard Brais, Stephan Zuchner, Vance P Lemmon
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus. Nature genetics 56 (7) (2024)
Carlo Wilke, David Pellerin, David Mengel, Benjamin Bender, Matt C Danzi, Marie-Josée Dicaire, Manuela Neumann, Holger Lerche, Benjamin Bender, Henry Houlden, null null, Ludger Schöls, Bernard Brais, Matthis Synofzik
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response. Brain : a journal of neurology (2023)
Ian C Smith, Chantal A Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J Mcmillan, Marcos Loreto Sampaio, Gerd Melkus, John M Woulfe, Gaganvir Parmar, Pierre Raymond Bourque, Thanh B Nguyen, Jocelyn Christine Zwicker, C Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A Dyment, Bernard Brais, Kym M Boycott, null null, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy. Neurology. Genetics 9 (1) (2023)
Jodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, Arran McBride, Madeline Couse, William Macdonald, Mellissa R W Mann, Pierre Raymond Bourque, Thanh B Nguyen, Hanns Lochmüller, John M Woulfe, Marcos Loreto Sampaio, Gerd Melkus, Bernard Brais, David A Dyment, Kym M Boycott, Kristin Kernohan
Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction. Neurology. Genetics 9 (5) (2023)
Luiz Eduardo Novis, Rodrigo S Frezatti, David Pellerin, Pedro José Tomaselli, Shahryar Alavi, Marcus Vinícius Della Coleta, Mariana Spitz, Marie-Josée Dicaire, Pablo Iruzubieta, José Luiz Pedroso, Orlando Grazianni Povoas Barsottini, Andrea Cortese, Matt C Danzi, Marcondes C França, Bernard Brais, Stephan Zuchner, Henry Houlden, Salmo Raskin, Wilson Marques, Hélio Augusto Guizoni Teive
Frequency of GAA- FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia. Neurology. Genetics 9 (5) (2023)
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, Mathilde Renaud, Sylvia Boesch, Bernard Brais
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients. Brain communications 5 (5) (2023)
Jodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, Arran McBride, Madeline Couse, William Macdonald, Mellissa R W Mann, Pierre Raymond Bourque, Thanh B Nguyen, Hanns Lochmüller, John M Woulfe, Marcos Loreto Sampaio, Gerd Melkus, Bernard Brais, David A Dyment, Kym M Boycott, Kristin Kernohan
Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction. Neurology. Genetics 9 (5) (2023)
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
The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis. Molecular brain 12 (1) (2019)
Roxanne Larivière, Nicolas Sgarioto, Brenda Toscano Márquez, Rébecca Gaudet, Karine Choquet, R Anne McKinney, Alanna J Watt, Bernard Brais
Sacs R272C missense homozygous mice develop an ataxia phenotype. Molecular brain 12 (1) (2019)