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
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4
Evidence of mosaicism in SPAST variant carriers in four French families.
Angelini C et al.
European Journal of Human Genetics : Ejhg, 2021
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