×
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
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
Assay of CSF-GFAP may prove to be a rapid and cost-effective screening test in clinical variants of Alexander disease and an indicator of GFAP gene mutations.
16217707 2005
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Adult Alexander's disease without leukoencephalopathy.
16240361 2005
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
The authors studied seven patients with Alexander disease , diagnosed based on mutations in the GFAP gene, who presented unusual MRI findings.
16505300 2006
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Early mitochondrial dysfunction in an infant with Alexander disease.
16996408 2006
×
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
Discrepancy between neuroimaging findings and clinical phenotype in Alexander disease.
17110673 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
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis.
17383133 2007
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Alexander disease with hypothermia, microcoria, and psychiatric and endocrine disturbances.
17438228 2007
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Brainstem signs with progressing atrophy of medulla oblongata and upper cervical spinal cord.
17509491 2007
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
[Juvenile form of Alexander's disease - a case confirmed by detection of mutation in GFAP gene].
17629821 2007
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
A novel mutation in the GFAP gene in a familial adult onset Alexander disease .
17703343 2007
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene.17805552 2007
×
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
We report a patient with the adult form of Alexander disease who shows a novel mutation in GFAP .
17934883 2007
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
A novel glial fibrillary acidic protein (GFAP ) mutation, Y257C, is reported in a patient with adult-onset Alexander disease .
17960815 2008
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Mutations of the GFAP gene, encoding Glial Fibrillary Acidic Protein , have been recognized as the cause of Alexander disease .
17985264 2007
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
This is the first report of a novel deletion mutation in the glial fibrillary acidic protein gene with a frame shift associated with Alexander disease .
18054694 2008
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
GFAP has been identified to be the only gene associated with Alexander disease since 2001.18079314 2008
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Adult-onset Alexander disease with palatal myoclonus and intraventricular tumour.
18217876 2008
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Can MR imaging diagnose adult-onset Alexander disease?
18388212 2008
×
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
Valproate-induced parkinsonism, glial cells and Alexander's disease.
18495313 2008