Associated Papers
A Novel VPS13A Deletion in VPS13A Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary.
Perrone B et al.
International Journal of Molecular Sciences, 2025
41373679 (PubMed )
Supplement: ijms-26-11521-s001.zip › ijms-3917049-supplementary.pdf
Chorea and seizures in a patient with a rare VPS13A gene mutation and neuroacanthocytosis.
Srinivasan VA et al.
Bmj Case Reports, 2025
Clinico-genetic profile of case series of six Tamilian chorea-acanthocytosis families with VPS13A mutations from South India.
Saibaba J et al.
Parkinsonism & Related Disorders, 2025
Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s).
Chaudhari S et al.
Molecular Genetics and Genomics : Mgg, 2023
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Decreased Na+/K+ ATPase Expression and Depolarized Cell Membrane in Neurons Differentiated from Chorea-Acanthocytosis Patients.
Hosseinzadeh Z et al.
Scientific Reports, 2020
Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis.
Nishida Y et al.
Neurology. Genetics, 2019
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