Associated Papers
Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease.
Gagliardi D et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2025
A systematic review and meta-analysis of GFAP gene variants in Alexander disease.
Grossi A et al.
Scientific Reports, 2024
39420046 (PubMed )
Supplement: 41598_2024_75383_MOESM2_ESM.xlsx › Suppl._Table_2
Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.
Heshmatzad K et al.
European Journal of Medical Research, 2022
Alexander disease GFAP R239C mutant shows increased susceptibility to lipoxidation and elicits mitochondrial dysfunction and oxidative stress.
Viedma-Poyatos Á et al.
Redox Biology, 2022
A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes.
Kang YR et al.
European Journal of Human Genetics : Ejhg, 2022
Case report: Alexander's disease with "head drop" as the main symptom and literature review.
Yuan Y et al.
Frontiers in Neurology, 2022
[A case of Alexander disease with repeated loss of consciousness and with rapid aggravation of dysbasia by falling].
Matsuyama Y et al.
Rinsho Shinkeigaku = Clinical Neurology, 2020
Adult-onset Alexander disease with a heterozygous D128N GFAP mutation: a pathological study.
Cabrera-Galván JJ et al.
Histology and Histopathology, 2019
Crystal structure of the human glial fibrillary acidic protein 1B domain.
Kim B et al.
Biochemical and Biophysical Research Communications, 2018
Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model.
Lee SH et al.
Bmc Neurology, 2017
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.
Yoshida T et al.
Journal of Neurology, 2011
Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.
Pareyson D et al.
Brain : a Journal of Neurology, 2008
Can MR imaging diagnose adult-onset Alexander disease?
Farina L et al.
Ajnr. American Journal of Neuroradiology, 2008
Type II (adult onset) Alexander disease in a paraplegic male with a rare D128N mutation in the GFAP gene.
Chang KE et al.
Clinical Neuropathology, 0
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