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Last Updated: 10/31/2025
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Found 419 publications
Chorea and seizures in a patient with a rare VPS13A gene mutation and neuroacanthocytosis.
Journal: BMJ case reports
Published: October 17, 2025
Chorea-Acanthocytosis in a Patient With a Novel Homozygous Pathogenic Variant in the VPS13A Gene.
Journal: Neurology
Published: July 08, 2025
Novel loss-of-function mutations in VPS13A cause chorea-acanthocytosis in two families.
Journal: Frontiers in neurology
Published: June 09, 2025
Defect in hematopoiesis and embryonic lethality at midgestation of Vps13a/Vps13c double knockout mice.
Journal: bioRxiv : the preprint server for biology
Published: June 04, 2025
Various Gait Patterns in Chorea-Acanthocytosis.
Journal: Movement disorders clinical practice
Published: May 23, 2025
Hereditary Extrapyramidal Disorders Encountered in Daily Clinical Practice: Motor Symptoms, Causal Genes, and Treatment of Huntington's Disease, Neuroacanthocytosis, and Hereditary Dystonia
Journal: Brain and nerve = Shinkei kenkyu no shinpo
Published: May 12, 2025
VEXAS syndrome-associated tumefactive demyelination.
Journal: Journal of neurology
Published: April 30, 2025
The Diverse Neuromuscular Spectrum of VPS13A Disease.
Journal: Annals of clinical and translational neurology
Published: April 02, 2025
Neuropathological Characterisation of McLeod Syndrome With a Proposed New Grading System.
Journal: Neuropathology and applied neurobiology
Published: March 26, 2025
Phenotypic variability in sisters with VPS13A disease (chorea-acanthocytosis)
Journal: Ideggyogyaszati szemle
Published: March 05, 2025
Last Updated: 10/31/2025