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
VPS13D-related disorders: a severe case, review, and genotype-phenotype correlation.
Liu WL et al.
Neurocase, 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
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.
Ortigoza-Escobar JD
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023
37810989 (PubMed )
Supplement: tohm-13-1-801-s4.xlsx › Hoja1
Autosomal recessive spinocerebellar ataxia type 4 with a VPS13D mutation: A case report.
Huang X et al.
World Journal of Clinical Cases, 2022
Genetic Dissection of Vps13 Regulation in Yeast Using Disease Mutations from Human Orthologs.
Park JS et al.
International Journal of Molecular Sciences, 2021
VPS13D promotes peroxisome biogenesis.
Baldwin HA et al.
The Journal of Cell Biology, 2021
Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.
Almontashiri NAM et al.
Scientific Reports, 2020
32523032 (PubMed )
Supplement: 41598_2020_66401_MOESM4_ESM.xlsx › Table_S3
A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13.
Dziurdzik SK et al.
Human Molecular Genetics, 2020
Recessive mutations in VPS13D cause childhood onset movement disorders.
Gauthier J et al.
Annals of Neurology, 2018
Select a paper to view details