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
Evidence of mosaicism in SPAST variant carriers in four French families.
Angelini C et al.
European Journal of Human Genetics : Ejhg, 2021
Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
Park H et al.
Journal of the Neurological Sciences, 2015
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