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Neurology|August 12, 2024
Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 CarriersGiulia Coarelli, Charlotte Dubec-Fleury, Emilien Petit, et al.
Brain : a Journal of Neurology|April 27, 2017
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathiesMarie Coutelier, Giulia Coarelli, Marie-Lorraine Monin, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 20, 2025
Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and AtaxiaCécile Di Folco, Charlotte Dubec-Fleury, Andreas Traschütz, et al.
American Journal of Human Genetics|January 7, 2014
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegiaTyphaine Esteves, Alexandra Durr, Emeline Mundwiller, et al.
Journal of Neurology|May 5, 2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified casesMartial Mallaret, Mathilde Renaud, Claire Redin, et al.
Nature Genetics|February 27, 2007
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosumGiovanni Stevanin, Filippo M Santorelli, Hamid Azzedine, et al.
Human Molecular Genetics|November 19, 2010
Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European populationMohamad Saad, Suzanne Lesage, Aude Saint-Pierre, et al.
Scientific Reports|November 10, 2022
Prediction of the disease course in Friedreich ataxiaChristian Hohenfeld, Ulrich Terstiege, Imis Dogan, et al.
Brain Communications|June 30, 2025
Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles of <i>HTT</i> associated with an early disease onset in <i>C9orf72</i> carriersMathieu Barbier, Thomas Gareau, Agnès Camuzat, et al.
The Lancet. Neurology|January 9, 2015
Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline dataKathrin Reetz, Imis Dogan, Ana S Costa, et al.
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