Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.L76F
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GFAP

NM_002055.5:p.L76F

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

Fetal-onset Alexander disease with radiological-neuropathological correlation.

Devos J et al.

Pediatric Radiology, 2023

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

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

Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.

Zang L et al.

Journal of Human Genetics, 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

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

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

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

Gorospe JR et al.

Neurology, 2002

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.

Rodriguez D et al.

American Journal of Human Genetics, 2001

[An atypical presentation of Infantile Alexander disease lacking macrocephaly].

Esmer C et al.

Boletin Medico Del Hospital Infantil De Mexico, 0

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