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
Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc).
Ghodsinezhad V et al.
Molecular Genetics and Genomics : Mgg, 2024
Decreased Na+/K+ ATPase Expression and Depolarized Cell Membrane in Neurons Differentiated from Chorea-Acanthocytosis Patients.
Hosseinzadeh Z et al.
Scientific Reports, 2020
Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.
Mariani LL et al.
Jama Neurology, 2016
Ophthalmologic involvement in Japanese siblings with chorea-acanthocytosis caused by a novel chorein mutation.
Ogawa I et al.
Parkinsonism & Related Disorders, 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
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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