×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
The child was found to harbor the R416W mutation, one of the most prevalent mutations in the glial fibrillary acidic protein (GFAP ) gene that causes Alexander disease .
24742911 2014
×
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
Adult onset Alexander disease presenting with progressive spastic paraplegia.
24188966 2014
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Genetic analysis of the GFAP gene is recommended for all patients with late-onset progressive ataxia and suspected of having adult-onset Alexander disease on the basis of MRI findings.
23743246 2013
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Acute onset of adult Alexander disease.
23706596 2013
×
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
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
Alexander disease with mild dorsal brainstem atrophy and infantile spasms.
22818990 2013
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Alexander Disease: Report of Two Unrelated Infantile Form Cases, Identified by GFAP Mutation Analysis and Review of Literature; The First Report from Iran.
24427505 2013
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Autonomic dysfunction in adult-onset alexander disease: a case report and review of the literature.
23925719 2013
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Alexander disease.
23149175 2013
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.
23634874 2013
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Infantile-onset Alexander disease: a genetically proven case with mild clinical course in a 6-year-old Indian boy.
22566711 2013
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
A case of adult-onset alexander disease featuring severe atrophy of the medulla oblongata and upper cervical cord on magnetic resonance imaging.
23185175 2012
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy.
22198646 2012
×
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
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
A 2-month-old infant with vomiting, seizures, and progressive apathy.
22302460 2012
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Late-onset Alexander disease with a V87L mutation in glial fibrillary acidic protein (GFAP) and calcifying lesions in the sub-cortex and cortex.
21822933 2012
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Archetypal and new families with Alexander disease and novel mutations in GFAP.
21987397 2012
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Glial fibrillary acidic protein mutations in adult-onset Alexander disease: clinical features observed in 12 Japanese patients.
20849398 2011
×
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
Alexander Disease
1.000
CausalMutation
CLINVAR
Serial MRI changes in a patient with infantile Alexander disease and prolonged survival.
21041050 2011
×
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
MS-like presentation of Alexander disease with multifocal lesions and oligoclonal bands.
21132324 2011