Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
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
A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease.
Song X et al.
Molecular Medicine Reports, 2021
Crystal structure of the human glial fibrillary acidic protein 1B domain.
Kim B et al.
Biochemical and Biophysical Research Communications, 2018
Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor.
Gass JM et al.
The Neurologist, 2017
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.
Yoshida T et al.
Journal of Neurology, 2011
An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein.
Ohnari K et al.
Journal of Neurology, 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
Unusual variants of Alexander's disease.
van der Knaap MS et al.
Annals of Neurology, 2005
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