Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.S393I
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GFAP

NM_002055.5:p.S393I

Associated Papers

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

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

A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease.

Song X et al.

Molecular Medicine Reports, 2021

Neuropsychological features of adult form of Alexander disease.

Draghi L et al.

Journal of the Neurological Sciences, 2019

Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model.

Lee SH et al.

Bmc Neurology, 2017

Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.

Yoshida T et al.

Journal of Neurology, 2011

Alexander disease causing mutations in the C-terminal domain of GFAP are deleterious both to assembly and network formation with the potential to both activate caspase 3 and decrease cell viability.

Chen YS et al.

Experimental Cell Research, 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

Can MR imaging diagnose adult-onset Alexander disease?

Farina L et al.

Ajnr. American Journal of Neuroradiology, 2008

A novel mutation in the GFAP gene in a familial adult onset Alexander disease.

Salmaggi A et al.

Journal of Neurology, 2007

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