Associated Papers
VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset.
de Mendonça RS et al.
Cerebellum (london, England), 2025
Clinical, genetic, and neuroimaging profiles of autosomal recessive spinocerebellar ataxia type 4 caused by novel VPS13D variants in Chinese.
Dong Y et al.
American Journal of Medical Genetics. Part A, 2024
RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature.
Baker EK et al.
Molecular Genetics and Genomics : Mgg, 2023
Autosomal recessive spinocerebellar ataxia type 4 with a VPS13D mutation: A case report.
Huang X et al.
World Journal of Clinical Cases, 2022
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Seong E et al.
Annals of Neurology, 2018
Select a paper to view details