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
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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc).
Ghodsinezhad V et al.
Molecular Genetics and Genomics : Mgg, 2024
Chorein, the protein responsible for chorea-acanthocytosis, interacts with β-adducin and β-actin.
Shiokawa N et al.
Biochemical and Biophysical Research Communications, 2013
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
Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia.
Shimo H et al.
Neuroscience Research, 2011
Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree.
Ichiba M et al.
Journal of the Neurological Sciences, 2007
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.
Dobson-Stone C et al.
European Journal of Human Genetics : Ejhg, 2002
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