An unusual GFAP mutation in a Taiwanese child with infantile Alexander disease
Author:
Funder
Far Eastern Memorial Hospital
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference7 articles.
1. Alexander disease: a novel mutation in GFAP leading to epilepsia partialis continua;Bonthius;J Child Neurol,2016
2. Alexander's disease: a report and reappraisal;Russo;Neurology,1976
3. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease;Li;Ann Neurol,2005
4. Follow up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations;Zang;J Hum Genet,2013
5. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease;Brenner;Nat Genet,2001
Cited by 2 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. GFAP variants leading to infantile Alexander disease: Phenotype and genotype analysis of 135 cases and report of a de novo variant;Clinical Neurology and Neurosurgery;2021-08
2. A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease;Frontiers in Neurology;2019-11-06
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