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
Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders.
Si L et al.
Neurogenetics, 2023
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.
Vaisfeld A et al.
Genes, 2021
Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations.
Niemelä V et al.
Neurology. Genetics, 2020
Late Emergence of Parkinsonian Phenotype and Abnormal Dopamine Transporter Scan in Chorea-Acanthocytosis.
Nagy A et al.
Movement Disorders Clinical Practice, 2015
Alterations of red cell membrane properties in neuroacanthocytosis.
Siegl C et al.
Plos One, 2013
Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred.
Velayos-Baeza A et al.
Archives of Neurology, 2011
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