Associated Papers
Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc).
Ghodsinezhad V et al.
Molecular Genetics and Genomics : Mgg, 2024
Case report: Misdiagnosed orolingual dyskinesia as a consequence of seizures in a chorea-acanthocytosis patient with a novel VPS13A variation from a family with consanguineous marriage.
Wang M et al.
Frontiers in Neurology, 2024
Case report: Neuroacanthocytosis associated with novel variants in the VPS13A gene with concomitant nucleotide expansion for CANVAS and assessment with osmotic gradient ektacytometry.
Paucar M et al.
Frontiers in Neuroscience, 2024
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
Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A.
Luo FM et al.
Frontiers in Neuroscience, 2021
Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review.
Shen Y et al.
Frontiers in Aging Neuroscience, 2017
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