Associated Papers
SNUPN variants cause spinocerebellar atrophy by disrupting global splicing in cerebellar Purkinje cells.
Okubo M et al.
Brain : a Journal of Neurology, 2026
SNUPN-Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights.
Muelas N et al.
Annals of Clinical and Translational Neurology, 2025
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M et al.
Nature Communications, 2024
38413582 (PubMed )
Supplement: 41467_2024_45933_MOESM6_ESM.pdf
Select a paper to view details