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
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Chelban V et al.
Nature Communications, 2024
38480682 (PubMed )
Supplement: 41467_2024_46354_MOESM1_ESM.pdf
Rapid Diagnosis of Hemophagocytic Lymphohistiocytosis Triggered by Disseminated BCG Infection in Infants With Severe Combined Immunodeficiency: Case Report.
Zou TT et al.
Open Forum Infectious Diseases, 2023
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