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Last Updated: 06/27/2025

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Found 407 publications

Defect in hematopoiesis and embryonic lethality at midgestation of Vps13a/Vps13c double knockout mice.

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

Hereditary Extrapyramidal Disorders Encountered in Daily Clinical Practice: Motor Symptoms, Causal Genes, and Treatment of Huntington's Disease, Neuroacanthocytosis, and Hereditary Dystonia

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

Phenotypic variability in sisters with VPS13A disease (chorea-acanthocytosis)

Phenotypic variability in sisters with VPS13A disease (chorea-acanthocytosis)

Journal: Ideggyogyaszati szemle
Published: March 05, 2025

Feeding dystonia, chorea, psychosis, and self-mutilation in an African patient with neuroacanthocytosis syndrome.

Feeding dystonia, chorea, psychosis, and self-mutilation in an African patient with neuroacanthocytosis syndrome.

Journal: Lancet (London, England)
Published: February 28, 2025

Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy.

Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy.

Journal: Acta neuropathologica communications
Published: February 18, 2025

Immunology of familial chorea-acanthocytosis with presenting generalized tonic-clonic seizure: Blood cell study for early diagnosis and management.

Immunology of familial chorea-acanthocytosis with presenting generalized tonic-clonic seizure: Blood cell study for early diagnosis and management.

Journal: Cellular immunology
Published: February 05, 2025

Hematopoietic Cell Transplantation in a Patient With X-Linked Chronic Granulomatous Disease With McLeod Phenotype.

Hematopoietic Cell Transplantation in a Patient With X-Linked Chronic Granulomatous Disease With McLeod Phenotype.

Journal: Pediatric transplantation
Published: February 01, 2025

Contiguous Xp21 deletion involving Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome results in rapidly progressive and fatal cardiomyopathy.

Contiguous Xp21 deletion involving Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome results in rapidly progressive and fatal cardiomyopathy.

Journal: Cardiology in the young
Published: January 03, 2025

Deep Brain Stimulation Withdrawal without Relapse in Chorea-Acanthocytosis: Two Case Reports.

Deep Brain Stimulation Withdrawal without Relapse in Chorea-Acanthocytosis: Two Case Reports.

Journal: Movement disorders clinical practice
Published: December 28, 2024

Red blood cell lipid distribution in the pathophysiology and laboratory evaluation of chorea-acanthocytosis and McLeod syndrome patients.

Red blood cell lipid distribution in the pathophysiology and laboratory evaluation of chorea-acanthocytosis and McLeod syndrome patients.

Journal: Frontiers in physiology
Published: December 11, 2024

Neuroacanthocytosis: Case report and neuroimaging findings.

Neuroacanthocytosis: Case report and neuroimaging findings.

Journal: Radiology case reports
Published: September 04, 2024

Phosphatidylethanolamines are the Main Lipid Class Altered in Red Blood Cells from Patients with VPS13A Disease/Chorea-Acanthocytosis.

Phosphatidylethanolamines are the Main Lipid Class Altered in Red Blood Cells from Patients with VPS13A Disease/Chorea-Acanthocytosis.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: September 01, 2024
Showing 1-12 of 407

Last Updated: 06/27/2025