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Movement Disorders : Official Journal of the Movement Disorder Society|October 10, 2025
Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS StudyStella Andrea Lischewski, Imis Dogan, Paola Giunti, et al.
Ebiomedicine|April 24, 2025
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohortDanique Beijer, David Mengel, Demet Önder, et al.
Annals of Clinical and Translational Neurology|August 29, 2023
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onsetLuca Porcu, Mario Fichera, Lorenzo Nanetti, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 25, 2023
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative AtaxiaDemet Oender, Jennifer Faber, Carlo Wilke, et al.
Ebiomedicine|January 22, 2024
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxiaHang Lyu, Christian M Boßelmann, Katrine M Johannesen, et al.
European Journal of Neurology|January 11, 2025
Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history studyStella Andrea Lischewski, Kerstin Konrad, Imis Dogan, et al.
Cerebellum (London, England)|June 23, 2026
Transitional Life Events in Friedreich Ataxia: Differential Age at Onset PerspectivesAudrey Iskandar, Maresa Buchholz, Dorota Sarwinska, et al.
Cerebellum (London, England)|May 22, 2026
A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAXMaresa Buchholz, Victoire Monier, Claire Ewenczyk, et al.
American Journal of Human Genetics|June 10, 2023
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxiasPaulina Cunha, Emilien Petit, Marie Coutelier, et al.
Nature Communications|February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxiaBenita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
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