Associated Papers
[Phenotypic variability in sisters with VPS13A disease (chorea-acanthocytosis)].
Oner OG et al.
Ideggyogyaszati Szemle, 2025
Combined Dendritic and Axonal Deterioration Are Responsible for Motoneuronopathy in Patient-Derived Neuronal Cell Models of Chorea-Acanthocytosis.
Glaß H et al.
International Journal of Molecular Sciences, 2020
iPhemap: an atlas of phenotype to genotype relationships of human iPSC models of neurological diseases.
Hollingsworth EW et al.
Embo Molecular Medicine, 2017
29051230 (PubMed )
Supplement: EMMM-9-1742-s001.pdf
Neuronal Dysfunction in iPSC-Derived Medium Spiny Neurons from Chorea-Acanthocytosis Patients Is Reversed by Src Kinase Inhibition and F-Actin Stabilization.
Stanslowsky N et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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