×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Moreover, dominant mutations in the GFAP gene, coding for glial fibrillary acidic protein (GFAP ), a principal astrocytic intermediate filament protein , have been shown to lead to AD .
17043438 2006
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
A prospective study on patients suspected to have Alexander disease was conducted to determine the extent to which clinical and MRI criteria could accurately diagnose affected individuals, using GFAP gene sequencing as the confirmatory assay.
12034785 2002
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Early onset Alexander disease: a case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes.
18402384 2008
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP .
15465095 2004
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
In a 6-year-old patient with a relatively mild form of Alexander disease , we detected a common R79H mutation in GFAP , previously only described in the infantile form.
16168593 2006
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Early parental touch and preterm infants.
1941292 1991
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Valproate-induced parkinsonism, glial cells and Alexander's disease.
18495313 2008
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Several sequencing analyses have identified mutations in the gene encoding glial fibrillary acidic protein (GFAP ) of patients with Alexander disease .
15030911 2004
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Splice site, frameshift, and chimeric GFAP mutations in Alexander disease.
22488673 2012
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
GeneticVariation
CLINVAR
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
AAO and the GFAP mutation site are important clinical predictors in AxD , with clear correlations to defined patterns of phenotypic expression.
21917775 2011
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Neuroimaging and clinical features in type II (late-onset) Alexander disease.
24306001 2014
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
MS-like presentation of Alexander disease with multifocal lesions and oligoclonal bands.
21132324 2011
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
"Magnetic resonance imaging ""tigroid pattern"" in Alexander disease."
23254569 2013
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease.
16168595 2006
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene.14557587 2003
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Magnetic resonance spectroscopy in the diagnostic evaluation of brainstem lesions in Alexander disease.
21270471 2011
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease.
23903069 2013
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Alexander disease: a novel mutation in the glial fibrillary acidic protein gene with initial uncommon clinical and magnetic resonance imaging findings.
24045243 2013
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
A retractable, multi-view gas delivery apparatus.
1250985 1976
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation.
14550921 2003
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Adult-onset Alexander disease with an R66Q mutation in GFAP presented with severe vocal cord paralysis during sleep.
22619055 2012
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
This mtDNA polymorphism, which has been associated with limb-girdle type mitochondrial myopathy, may modify the clinical symptoms of this juvenile form of Alexander disease with GFAP mutation.
15477559 2004
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
To date, more than 40 different GFAP mutations have been reported in AD .
17894839 2007
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Unusual diagnosis in a child suffering from juvenile Alexander disease: clinical and imaging report.
17156703 2006