Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome od Marjolaine Tremblay, Laura Girard-Côté, Bernard Brais, Cynthia Gagnon

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From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay od Cynthia Gagnon, Bernard Brais, Isabelle Lessard, Caroline Lavoie, Isabelle Côté, Jean Mathieu

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Reliability and validity of digital health metrics for assessing arm and hand impairments in an ataxic disorder od Christoph M. Kanzler, Isabelle Lessard, Roger Gassert, Bernard Brais, Cynthia Gagnon, Olivier Lambercy

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

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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 od Matthieu Y. Pasco, Hélène Catoire, J. Alex Parker, Bernard Brais, Guy A. Rouleau, Christian Néri

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

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Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay od Isabelle Lessard, Raphaël St-Gelais, Luc J. Hébert, Isabelle Côté, Jean Mathieu, Bernard Brais, Cynthia Gagnon

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

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High-Throughput Screening for Ligands of the HEPN Domain of Sacsin. od Xinlu Li, Marie Ménade, Guennadi Kozlov, Zheping Hu, Zheng Dai, Peter S McPherson, Bernard Brais, Kalle Gehring

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Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy od Christiane Messaed, Patrick A. Dion, Aida Abu-Baker, Daniel Rochefort, Janet Laganiere, Bernard Brais, Guy A. Rouleau

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Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing od Stefanie Perrier, Stefanie Perrier, Kether Guerrero, Kether Guerrero, Luan T. Tran, Luan T. Tran, Mackenzie A. Michell-Robinson, Mackenzie A. Michell-Robinson, Geneviève Legault, Geneviève Legault, Geneviève Legault, Bernard Brais, Bernard Brais, Bernard Brais, Michel Sylvain, James Dorman, James Dorman, Michelle Demos, Wolfgang Köhler, Tomi Pastinen, Tomi Pastinen, Isabelle Thiffault, Isabelle Thiffault, Isabelle Thiffault, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard

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Sacs R272C missense homozygous mice develop an ataxia phenotype od Roxanne Larivière, Nicolas Sgarioto, Brenda Toscano Márquez, Rébecca Gaudet, Karine Choquet, R. Anne McKinney, Alanna J. Watt, Bernard Brais

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

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The dynamism of PABPN1 nuclear inclusions during the cell cycle od A. Marie-Josée Sasseville, Antoine W. Caron, Lucie Bourget, Arnaud F. Klein, Marie-Josée Dicaire, Guy A. Rouleau, Bernard Massie, Yves Langelier, Bernard Brais

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The J Domain of Sacsin Disrupts Intermediate Filament Assembly od Afrooz Dabbaghizadeh, Alexandre Paré, Zacharie Cheng-Boivin, Robin Dagher, Sandra Minotti, Marie-Josée Dicaire, Bernard Brais, Jason C. Young, Heather D. Durham, Benoit J. Gentil

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P652: High-yield diagnostic testing of FGF14 repeat expansion in cerebellar ataxia across the North American population od Megan Forrest, Megan Delfeld, Alexander Gary, April Franco, Sanjukta Tawde, Malia Triebold, Widad Abou-Chaar, Vikram Shakkottai, Sharan Srinivasan, Khalaf Bushara, Bernard Brais, David Pellerin, Christopher Gomez, Soma Das

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

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

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GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortResearch in context od David Pellerin, Felix Heindl, Carlo Wilke, Matt C. Danzi, Andreas Traschütz, Catherine Ashton, Marie-Josée Dicaire, Alexanne Cuillerier, Giulia Del Gobbo, Kym M. Boycott, Jens Claassen, Dan Rujescu, Annette M. Hartmann, Stephan Zuchner, Bernard Brais, Michael Strupp, Matthis Synofzik

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

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