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Movement Disorders : Official Journal of the Movement Disorder Society|February 10, 2025
The Pattern and Stages of Atrophy in Spinocerebellar Ataxia Type 2: Volumetrics from ENIGMA-AtaxiaJason W Robertson, Isaac Adanyeguh, Benjamin Bender, et al.Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellumDavid Pellerin, Jean-Loup Méreaux, Susana Boluda, et al.Brain : a Journal of Neurology|October 8, 2024
Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellumDavid Pellerin, Jean-Loup Méreaux, Susana Boluda, et al.American Journal of Human Genetics|March 5, 2016
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent MitophagySuzanne Lesage, Valérie Drouet, Elisa Majounie, et al.Neurogenetics|May 16, 2006
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneityGiovanni Stevanin, Giorgia Montagna, Hamid Azzedine, et al.Movement Disorders : Official Journal of the Movement Disorder Society|February 12, 2022
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar AtaxiaLiedewei Van de Vondel, Jonathan De Winter, Danique Beijer, et al.Annals of Neurology|August 21, 2015
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-SaguenayJulie Pilliod, Sébastien Moutton, Julie Lavie, et al.Ebiomedicine|December 24, 2025
Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichmentHannah Baumeister, Philipp Wegner, Mónica Ferreira, et al.Annals of Neurology|April 28, 2020
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 PatientsAndreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, et al.Journal of Neurology, Neurosurgery, and Psychiatry|February 21, 2024
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia studyThiago Junqueira Ribeiro Rezende, Isaac Adanyaguh, Orlando G P Barsottini, et al.Pageof 33