Associated Papers
Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.
Bachetti T et al.
Molecular Genetics and Metabolism, 2026
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
Relative stabilities of wild-type and mutant glial fibrillary acidic protein in patients with Alexander disease.
Heaven MR et al.
The Journal of Biological Chemistry, 2019
Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases.
Knuutinen O et al.
Neuropediatrics, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
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
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.
Li R et al.
Annals of Neurology, 2005
Unusual variants of Alexander's disease.
van der Knaap MS et al.
Annals of Neurology, 2005
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