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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.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.European Journal of Human Genetics : EJHG|February 5, 2015
Next-generation sequencing in X-linked intellectual disabilityAndreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, et al.Nature Genetics|April 29, 2024
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagyKarla P Figueroa, Caspar Gross, Elena Buena-Atienza, et al.Nature Communications|June 7, 2024
Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic targetLucas Caldi Gomes, Sonja Hänzelmann, Fabian Hausmann, 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.Pageof 2