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Brain : a Journal of Neurology|December 12, 2017
Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5Cecilia Marelli, Foudil Lamari, Dominique Rainteau, 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.EMBO Molecular Medicine|June 9, 2020
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and miceCarlo Wilke, Eva Haas, Kathrin Reetz, et al.Journal of Medical Genetics|June 11, 2013
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasiaEleonora Di Gregorio, Federico T Bianchi, Alfonso Schiavi, et al.Movement Disorders : Official Journal of the Movement Disorder Society|July 26, 2024
Sensitivity of Advanced Magnetic Resonance Imaging to Progression over Six Months in Early Spinocerebellar AtaxiaThiago J R Rezende, Emilien Petit, Young Woo Park, et al.Human Mutation|May 28, 2011
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunctionCyril Goizet, Christel Depienne, Giovanni Benard, et al.Annals of Clinical and Translational Neurology|February 10, 2026
Value of MRI Outcomes for Preventive and Early-Stage Trials in Spinocerebellar Ataxias 1 and 3Thiago J R Rezende, Emilien Petit, Young Woo Park, et al.Brain : a Journal of Neurology|November 17, 2021
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxiaMarie Coutelier, Maxime Jacoupy, Alexandre Janer, 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.Pageof 33