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
A novel VPS13A mutation in an Iranian family with Chorea-Acanthocytosis.
Salmanian M et al.
Neurogenetics, 2025
Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea-Acanthocytosis.
Yu H et al.
Molecular Genetics & Genomic Medicine, 2024
Physiological and Pathogenesis Significance of Chorein in Health and Disease.
Alkahtani S et al.
Physiological Research, 2024
Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc).
Ghodsinezhad V et al.
Molecular Genetics and Genomics : Mgg, 2024
Compound Heterozygous VPS13A Variants in a Patient with Neuroacanthocytosis: A Case Report and Review of the Literature.
Kim A et al.
Laboratory Medicine, 2022
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.
Vaisfeld A et al.
Genes, 2021
Chorea-acanthocytosis with a novel mutation in the vacuolar protein sorting 13 homolog a gene: A case report.
Tada Y et al.
Journal of the Neurological Sciences, 2020
Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis.
Nishida Y et al.
Neurology. Genetics, 2019
Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.
Tomiyasu A et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2011
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.
Dobson-Stone C et al.
European Journal of Human Genetics : Ejhg, 2002
Select a paper to view details