Associated Papers
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Menden B et al.
Nature Communications, 2026
The Diverse Neuromuscular Spectrum of VPS13A Disease.
Buchberger A et al.
Annals of Clinical and Translational Neurology, 2026
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
High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics.
Birnbaum R et al.
Clinical Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy.
Riccardi V et al.
Acta Neuropathologica Communications, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
Defective mitochondrial and lysosomal trafficking in chorea-acanthocytosis is independent of Src-kinase signaling.
Glaß H et al.
Molecular and Cellular Neurosciences, 2018
Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up.
Dulski J et al.
Clinical Neurology and Neurosurgery, 2016
Alterations of red cell membrane properties in neuroacanthocytosis.
Siegl C et al.
Plos One, 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
Early clinical heterogeneity in choreoacanthocytosis.
Lossos A et al.
Archives of Neurology, 2005