Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family”
Pellerin, David, Iruzubieta, Pablo, Tekgül, Şeyma, Danzi, Matt C., Ashton, Catherine, Dicaire, Marie‐Josée, Wandzel, Marion, Roth, Virginie, Lamont, Phillipa J., Bonnet, Céline, Renaud, Mathilde, Synofzik, Matthis, Zuchner, Stephan, Brais, Bernard, Başak, Nazlı A., Houlden, Henry
Published in Movement disorders (01.08.2023)
Published in Movement disorders (01.08.2023)
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Journal Article
The FGF14 GAA repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the SCA27B phenotype across populations
Kartanou, Chrisoula, Mitrousias, Alexandros, Pellerin, David, Kontogeorgiou, Zoi, Iruzubieta, Pablo, Dicaire, Marie‐Josée, Danzi, Matt C., Koniari, Chrysoula, Athanassopoulos, Konstantinos, Panas, Marios, Stefanis, Leonidas, Zuchner, Stephan, Brais, Bernard, Houlden, Henry, Karadima, Georgia, Koutsis, Georgios
Published in Clinical genetics (01.04.2024)
Published in Clinical genetics (01.04.2024)
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Journal Article
Novel Recessive TNNT1 Congenital Core‐Rod Myopathy in French Canadians
Pellerin, David, Aykanat, Asli, Ellezam, Benjamin, Troiano, Emily C., Karamchandani, Jason, Dicaire, Marie‐Josée, Petitclerc, Marc, Robertson, Rebecca, Allard‐Chamard, Xavier, Brunet, Denis, Konersman, Chamindra G., Mathieu, Jean, Warman Chardon, Jodi, Gupta, Vandana A., Beggs, Alan H., Brais, Bernard, Chrestian, Nicolas
Published in Annals of neurology (01.04.2020)
Published in Annals of neurology (01.04.2020)
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Journal Article
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response
Wilke, Carlo, Pellerin, David, Mengel, David, Traschütz, Andreas, Danzi, Matt C, Dicaire, Marie-Josée, Neumann, Manuela, Lerche, Holger, Bender, Benjamin, Houlden, Henry, Züchner, Stephan, Schöls, Ludger, Brais, Bernard, Synofzik, Matthis
Published in Brain (London, England : 1878) (03.10.2023)
Published in Brain (London, England : 1878) (03.10.2023)
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Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia
Iruzubieta, Pablo, Pellerin, David, Bergareche, Alberto, Albajar, Inés, Mondragón, Elisabet, Vinagre, Ana, Fernández‐Torrón, Roberto, Moreno, Fermín, Equiza, Jon, Campo‐Caballero, David, Poza, Juan José, Ruibal, Marta, Formica, Alessandro, Dicaire, Marie‐Josée, Danzi, Matt C., Zuchner, Stephan, Croitoru, Ioana, Ruiz, Montserrat, Schlüter, Agatha, Casasnovas, Carlos, Pujol, Aurora, Brais, Bernard, Houlden, Henry, López de Munain, Adolfo, Ruiz‐Martínez, Javier
Published in European journal of neurology (01.12.2023)
Published in European journal of neurology (01.12.2023)
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Journal Article
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases
Choquet, Karine, Tétreault, Martine, Yang, Sharon, La Piana, Roberta, Dicaire, Marie-Josée, Vanstone, Megan R, Mathieu, Jean, Bouchard, Jean-Pierre, Rioux, Marie-France, Rouleau, Guy A, Boycott, Kym M, Majewski, Jacek, Brais, Bernard
Published in European journal of human genetics : EJHG (01.07.2016)
Published in European journal of human genetics : EJHG (01.07.2016)
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Journal Article
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
Bonnet, Céline, Pellerin, David, Roth, Virginie, Clément, Guillemette, Wandzel, Marion, Lambert, Laëtitia, Frismand, Solène, Douarinou, Marian, Grosset, Anais, Bekkour, Ines, Weber, Frédéric, Girardier, Florent, Robin, Clément, Cacciatore, Stéphanie, Bronner, Myriam, Pourié, Carine, Dreumont, Natacha, Puisieux, Salomé, Iruzubieta, Pablo, Dicaire, Marie-Josée, Evoy, François, Rioux, Marie-France, Hocquel, Armand, La Piana, Roberta, Synofzik, Matthis, Houlden, Henry, Danzi, Matt C., Zuchner, Stephan, Brais, Bernard, Renaud, Mathilde
Published in Scientific reports (15.06.2023)
Published in Scientific reports (15.06.2023)
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Journal Article
Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
Pellerin, David, Wilke, Carlo, Traschütz, Andreas, Nagy, Sara, Currò, Riccardo, Dicaire, Marie-Josée, Garcia-Moreno, Hector, Anheim, Mathieu, Wirth, Thomas, Faber, Jennifer, Timmann, Dagmar, Depienne, Christel, Rujescu, Dan, Gazulla, José, Reilly, Mary M, Giunti, Paola, Brais, Bernard, Houlden, Henry, Schöls, Ludger, Strupp, Michael, Cortese, Andrea, Synofzik, Matthis
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2024)
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2024)
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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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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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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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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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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)
Published in Annals of neurology (12.09.2024)
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Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation
Choquet, Karine, Yang, Sharon, Moir, Robyn D, Forget, Diane, Larivière, Roxanne, Bouchard, Annie, Poitras, Christian, Sgarioto, Nicolas, Dicaire, Marie-Josée, Noohi, Forough, Kennedy, Timothy E, Rochford, Joseph, Bernard, Geneviève, Teichmann, Martin, Coulombe, Benoit, Willis, Ian M, Kleinman, Claudia L, Brais, Bernard
Published in Molecular brain (13.04.2017)
Published in Molecular brain (13.04.2017)
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The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis
Choquet, Karine, Pinard, Maxime, Yang, Sharon, Moir, Robyn D, Poitras, Christian, Dicaire, Marie-Josée, Sgarioto, Nicolas, Larivière, Roxanne, Kleinman, Claudia L, Willis, Ian M, Gauthier, Marie-Soleil, Coulombe, Benoit, Brais, Bernard
Published in Molecular brain (20.06.2019)
Published in Molecular brain (20.06.2019)
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Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations
Ménade, Marie, Kozlov, Guennadi, Trempe, Jean-François, Pande, Harshit, Shenker, Solomon, Wickremasinghe, Sihara, Li, Xinlu, Hojjat, Hamed, Dicaire, Marie-Josée, Brais, Bernard, McPherson, Peter S., Wong, Michael J.H., Young, Jason C., Gehring, Kalle
Published in The Journal of biological chemistry (17.08.2018)
Published in The Journal of biological chemistry (17.08.2018)
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Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
Kozlov, Guennadi, Denisov, Alexey Y., Girard, Martine, Dicaire, Marie-Josée, Hamlin, Jason, McPherson, Peter S., Brais, Bernard, Gehring, Kalle
Published in The Journal of biological chemistry (10.06.2011)
Published in The Journal of biological chemistry (10.06.2011)
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Journal Article
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort
Pellerin, David, Heindl, Felix, Wilke, Carlo, Danzi, Matt C., Traschütz, Andreas, Ashton, Catherine, Dicaire, Marie-Josée, Cuillerier, Alexanne, Del Gobbo, Giulia, Boycott, Kym M., Claassen, Jens, Rujescu, Dan, Hartmann, Annette M., Zuchner, Stephan, Brais, Bernard, Strupp, Michael, Synofzik, Matthis
Published in EBioMedicine (01.04.2024)
Published in EBioMedicine (01.04.2024)
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Journal Article
Multisystem Proteinopathy Associated with a VCP G156S Mutation in a French Canadian Family
Pellerin, David, Ellezam, Benjamin, Korathanakhun, Pat, Renaud, Mathilde, Dicaire, Marie-Josée, Pilote, Léo, Levy, Jake P, Karamchandani, Jason, Ducharme, Simon, Massie, Rami, Brais, Bernard
Published in Canadian journal of neurological sciences (01.05.2020)
Published in Canadian journal of neurological sciences (01.05.2020)
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