Associated Papers
A homozygous PRDX3 pathogenic variant in a paediatric case of spinocerebellar ataxia type 32.
Yang J et al.
Neurogenetics, 2025
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
A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia.
Rafeeq MM et al.
Neurogenetics, 2023
Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3.
Martínez-Rubio D et al.
Human Molecular Genetics, 2022
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Martínez-Rubio D et al.
International Journal of Molecular Sciences, 2022
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