Associated Papers
A homozygous PRDX3 pathogenic variant in a paediatric case of spinocerebellar ataxia type 32.
Yang J et al.
Neurogenetics, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM6_ESM.xlsx › Sheet1
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.
Efthymiou S et al.
Annals of Clinical and Translational Neurology, 2023
Exon Skipping Caused by Noncanonical Splicing Mutation in PRDX3-Related Spinocerebellar Ataxia.
Wang G et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
37553955 (PubMed )
Supplement: supplement_1.docx
Select a paper to view details