Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Deletions in Glial Fibrillary Acidic Protein Leading to Alterations in Intermediate Filament Assembly and Network Formation.
Lin NH et al.
International Journal of Molecular Sciences, 2025
A systematic review and meta-analysis of GFAP gene variants in Alexander disease.
Grossi A et al.
Scientific Reports, 2024
Glial fibrillary acidic protein is pathologically modified in Alexander disease.
Lin NH et al.
The Journal of Biological Chemistry, 2024
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
Effects of Alexander disease-associated mutations on the assembly and organization of GFAP intermediate filaments.
Yang AW et al.
Molecular Biology of the Cell, 2022
A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease.
Song X et al.
Molecular Medicine Reports, 2021
Elevated GFAP isoform expression promotes protein aggregation and compromises astrocyte function.
Lin NH et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021
Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander disease severity.
Battaglia RA et al.
Elife, 2019
Towards genomic database of Alexander disease to identify variations modifying disease phenotype.
Yasuda R et al.
Scientific Reports, 2019
[A case of Alexander disease with dropped head syndrome].
Maeda K et al.
Rinsho Shinkeigaku = Clinical Neurology, 2018
Quantitative Evaluation of Brain Stem Atrophy Using Magnetic Resonance Imaging in Adult Patients with Alexander Disease.
Yoshida T et al.
European Neurology, 2017
Splice site, frameshift, and chimeric GFAP mutations in Alexander disease.
Flint D et al.
Human Mutation, 2012
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
An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein.
Ohnari K et al.
Journal of Neurology, 2007
GFAP and its role in Alexander disease.
Quinlan RA et al.
Experimental Cell Research, 2007
Propensity for paternal inheritance of de novo mutations in Alexander disease.
Li R et al.
Human Genetics, 2006
Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction.
Gorospe JR et al.
Mental Retardation and Developmental Disabilities Research Reviews, 2006
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.
Li R et al.
Annals of Neurology, 2005
[A case of juvenile Sandhoff disease].
Mitsuo K et al.
Rinsho Shinkeigaku = Clinical Neurology, 1990