Associated Papers
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Menden B et al.
Nature Communications, 2026
41690933 (PubMed )
Supplement: 41467_2026_69337_MOESM1_ESM.pdf
A Novel VPS13A Deletion in VPS13A Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary.
Perrone B et al.
International Journal of Molecular Sciences, 2025
41373679 (PubMed )
Supplement: ijms-26-11521-s001.zip › ijms-3917049-supplementary.pdf
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