An infantile–juvenile form of Alexander disease caused by a R79H mutation in GFAP-Reference-Cited by-同舟云学术

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An infantile–juvenile form of Alexander disease caused by a R79H mutation in GFAP

Published:2006-03 Issue:2 Volume:28 Page:131-133
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Asahina Naoko,Okamoto Takayuki,Sudo Akira,Kanazawa Naomi,Tsujino Seiichi,Saitoh Shinji

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference10 articles.

1. Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant;Alexander;Brain,1949

2. Alexander disease: diagnosis with MR imaging;van der Knaap;Am J Neuroradiol,2001

3. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease;Brenner;Nat Genet,2001

4. Infantile Alexander disease: spectrum of GFAP mutations and genotype–phenotype correlation;Rodriguez;Am J Hum Genet,2001

5. Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L;Shiroma;Brain Dev,2003

Cited by 12 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. Type I Alexander disease: Update and validation of the clinical evolution-based classification;Molecular Genetics and Metabolism;2023-03

2. Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing;European Journal of Medical Research;2022-09-10

3. Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation;Frontiers in Genetics;2021-12-07

4. Infantile Alexander disease with late onset infantile spasms and hypsarrhythmia;Balkan Journal of Medical Genetics;2019-11-01

5. A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever;European Journal of Human Genetics;2015-10-21

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