Associated Papers
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.
Zheng Y et al.
Brain : a Journal of Neurology, 2025
39423307 (PubMed )
Supplement: awae324_supplementary_data.zip › brain-2024-01629-File014.pdf
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.
Ghorbani F et al.
Frontiers in Genetics, 2022
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Caporali L et al.
Annals of Neurology, 2020
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
Nibbeling EAR et al.
Brain : a Journal of Neurology, 2017
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