Associated Papers
Self-silencing GFAP missense alleles in familial subclinical Alexander disease: implications for therapy.
Bachetti T et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2025
Adult-Onset Alexander Disease: A Case Report and Literature Review of Glu207 Alterations.
Vallamchetla SK et al.
Cureus, 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
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
Activation of a Cryptic Splice Site of GFAP in a Patient With Adult-Onset Alexander Disease.
Amano E et al.
Neurology. Genetics, 2021
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