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
Autosomal recessive spinocerebellar ataxia type 4 with a VPS13D mutation: A case report.
Huang X et al.
World Journal of Clinical Cases, 2022
Vmp1, Vps13D, and Marf/Mfn2 function in a conserved pathway to regulate mitochondria and ER contact in development and disease.
Shen JL et al.
Current Biology : Cb, 2021
VPS13D promotes peroxisome biogenesis.
Baldwin HA et al.
The Journal of Cell Biology, 2021
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Seong E et al.
Annals of Neurology, 2018
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