Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.R79G
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GFAP

NM_002055.5:p.R79G

Associated Papers

Description of the Hamburg Alexander Leukodystrophy Cohort-Insights into Practical Classification and the Care Situation.

Kokaly N et al.

Journal of Clinical Medicine, 2025

A systematic review and meta-analysis of GFAP gene variants in Alexander disease.

Grossi A et al.

Scientific Reports, 2024

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

Song X et al.

Molecular Medicine Reports, 2021

CSF and Blood Levels of GFAP in Alexander Disease

Jany PL et al.

Eneuro, 2015

Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement.

Wada Y et al.

Journal of the Neurological Sciences, 2013

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

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

Alexander disease: a leukodystrophy caused by a mutation in GFAP.

Johnson AB

Neurochemical Research, 2004

Alexander disease: putative mechanisms of an astrocytic encephalopathy.

Mignot C et al.

Cellular and Molecular Life Sciences : Cmls, 2004

Alexander's disease: clinical, pathologic, and genetic features.

Johnson AB et al.

Journal of Child Neurology, 2003

Alexander's disease in a neurologically normal child: a case report.

Guthrie SO et al.

Pediatric Radiology, 2003

Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.

Gorospe JR et al.

Neurology, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."