Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.
about
EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophyGFAP and its role in Alexander diseaseA New Outlook on Mental Illnesses: Glial Involvement Beyond the GluePrecursor cell biology and the development of astrocyte transplantation therapies: lessons from spinal cord injuryCree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locusAlexander Disease: Report of Two Unrelated Infantile Form Cases, Identified by GFAP Mutation Analysis and Review of Literature; The First Report from Iran.Alexander's disease: clinical, pathologic, and genetic features.An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variantCharacterization of structural changes in vimentin bearing an epidermolysis bullosa simplex-like mutation using site-directed spin labeling and electron paramagnetic resonance.Alexander disease causing mutations in the C-terminal domain of GFAP are deleterious both to assembly and network formation with the potential to both activate caspase 3 and decrease cell viability.Alexander's disease: reassessment of a neonatal form.The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alpha B-crystallin and HSP27Plectin regulates the organization of glial fibrillary acidic protein in Alexander disease.Gene expression profiling to identify druggable targets in prion diseases.Astrocyte pathology in Alexander disease causes a marked inflammatory environment.HIV-1 Tat Induces Unfolded Protein Response and Endoplasmic Reticulum Stress in Astrocytes and Causes Neurotoxicity through Glial Fibrillary Acidic Protein (GFAP) Activation and Aggregation.Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease.Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease.Infantile Alexander Disease: Case Report and Review of Literature.A case of adult-onset alexander disease featuring severe atrophy of the medulla oblongata and upper cervical cord on magnetic resonance imaging.Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.Unusual variants of Alexander's disease.Alexander Disease.Infantile onset alexander disease with normal head circumference: a genetically proven case report.Atypical focal MRI lesions in a case of juvenile Alexander's disease.Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.Unusual diagnosis in a child suffering from juvenile Alexander disease: clinical and imaging report.Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.Glial fibrillary acidic protein mutations in adult-onset Alexander disease: clinical features observed in 12 Japanese patients.Neonatal Alexander disease: MR imaging prenatal diagnosis.Late onset Alexander's disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene.
P2860
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P2860
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.
description
2001 nî lūn-bûn
@nan
2001 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Infantile Alexander disease: s ...... genotype-phenotype correlation
@nl
Infantile Alexander disease: s ...... enotype-phenotype correlation.
@ast
Infantile Alexander disease: s ...... enotype-phenotype correlation.
@en
type
label
Infantile Alexander disease: s ...... genotype-phenotype correlation
@nl
Infantile Alexander disease: s ...... enotype-phenotype correlation.
@ast
Infantile Alexander disease: s ...... enotype-phenotype correlation.
@en
prefLabel
Infantile Alexander disease: s ...... genotype-phenotype correlation
@nl
Infantile Alexander disease: s ...... enotype-phenotype correlation.
@ast
Infantile Alexander disease: s ...... enotype-phenotype correlation.
@en
P2093
P2860
P356
P1476
Infantile Alexander disease: s ...... enotype-phenotype correlation.
@en
P2093
Boespflug-Tanguy O
Dautigny A
Gauthier F
Hernandorena X
P2860
P304
P356
10.1086/323799
P407
P577
2001-09-20T00:00:00Z