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Brain : a Journal of Neurology|March 31, 2015
Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutationMartine Tétreault, Michael Gonzalez, Marie-Josée Dicaire, et al.
Neurobiology of Disease|July 25, 2006
The dynamism of PABPN1 nuclear inclusions during the cell cycleA Marie-Josée Sasseville, Antoine W Caron, Lucie Bourget, et al.
Movement Disorders Clinical Practice|March 23, 2023
Demographics and Clinical Characteristics of Autosomal Dominant Spinocerebellar Ataxia in CanadaSohaila Alshimemeri, Danah Abo Alsamh, Lily Zhou, et al.
Cerebellum (London, England)|March 4, 2024
CHARON: An Imaging-Based Diagnostic Algorithm to Navigate Through the Sea of Hereditary Degenerative AtaxiasAlessandra Scaravilli, Mario Tranfa, Giuseppe Pontillo, et al.
International Journal of Molecular Sciences|December 23, 2022
The J Domain of Sacsin Disrupts Intermediate Filament AssemblyAfrooz Dabbaghizadeh, Alexandre Paré, Zacharie Cheng-Boivin, et al.
Neuromuscular Disorders : NMD|November 5, 2023
Emerging and established biomarkers of oculopharyngeal muscular dystrophyIan C Smith, Shaoni Chakraborty, Pierre R Bourque, et al.
Neuromuscular Disorders : NMD|December 3, 2022
Quantitative vs qualitative muscle MRI: Imaging biomarker in patients with Oculopharyngeal Muscular Dystrophy (OPMD)Gerd Melkus, Marcos L Sampaio, Ian C Smith, et al.
Neurogenetics|January 7, 2017
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotypeRoberta La Piana, Woranontee Weraarpachai, Luis H Ospina, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 29, 2025
GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic ImplicationsElisabetta Indelicato, Zofia Fleszar, David Pellerin, et al.
Cerebellum (London, England)|July 18, 2025
Spinocerebellar Ataxia Type 27B can be Suspected Based on Clinical Phenotype: The Massachusetts General Hospital Ataxia Center ExperienceLeigh A Rettenmaier, Jin Yun Helen Chen, Jason MacMore, et al.
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