Associated Papers
PgxSAVy: A tool for comprehensive evaluation of variant peptide quality in proteogenomics - catching the (un)usual suspects.
Raj A et al.
Computational and Structural Biotechnology Journal, 2024
38292474 (PubMed )
Supplement: mmc3.xlsx › AD_DiseaseAnnotation
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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease.
Song X et al.
Molecular Medicine Reports, 2021
Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases.
Knuutinen O et al.
Neuropediatrics, 2018
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.
Boczek NJ et al.
Clinical Case Reports, 2016
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.
Yoshida T et al.
Journal of Neurology, 2011
GFAP and its role in Alexander disease.
Quinlan RA et al.
Experimental Cell Research, 2007
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
Discrepancy between neuroimaging findings and clinical phenotype in Alexander disease.
Dinopoulos A et al.
Ajnr. American Journal of Neuroradiology, 0
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