Chorein detection for the diagnosis of chorea-acanthocytosis-Reference-Cited by-同舟云学术

Chorein detection for the diagnosis of chorea-acanthocytosis

Published:2004 Issue:2 Volume:56 Page:299-302
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Dobson-Stone Carol,Velayos-Baeza Antonio,Filippone Lea A.,Westbury Sarah,Storch Alexander,Erdmann Torsten,Wroe Stephen J.,Leenders Klaus L.,Lang Anthony E.,Dotti Maria Teresa,Federico Antonio,Mohiddin Saidi A.,Fananapazir Lameh,Daniels Geoff,Danek Adrian,Monaco Anthony P.

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference14 articles.

1. Clinical features and molecular bases of neuroacanthocytosis

2. Diagnostic tests for choreoacanthocytosis

3. McLeod neuroacanthocytosis: Genotype and phenotype

4. A conserved sorting-associated protein is mutant in chorea-acanthocytosis

5. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis

Cited by 126 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Phosphatidylethanolamines are the main lipid class altered in red blood cells from patients with VPS13A disease/chorea-acanthocytosis;2024-09-01

2. Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc);Molecular Genetics and Genomics;2024-03-22

3. Approaches using genome-wide association studies and heat stress resistance related genes in chicken – a review;Animal Science Papers and Reports;2024-03-01

4. The Role of Chorein Deficiency in Late Spermatogenesis;Biomedicines;2024-01-22

5. Novel heterozygous VPS13A pathogenic variants in chorea-neuroacanthocytosis: a case report;BMC Neurology;2023-10-04