(Q33929961)

30 July 2017

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease (English)

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30 July 2017

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M Brenner

1

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30 July 2017

A B Johnson

2

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30 July 2017

O Boespflug-Tanguy

3

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30 July 2017

D Rodriguez

4

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30 July 2017

J E Goldman

5

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30 July 2017

A Messing

6

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30 July 2017

language of work or name

English

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publication date

1 January 2001

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30 July 2017

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30 July 2017

27

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30 July 2017

1

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30 July 2017

117-120

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https://scigraph.springernature.com/pub.10.1038/83679

30 July 2017

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cites work

On-grid immunogold labeling of glial intermediate filaments in epoxy-embedded tissue

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7 January 2021

Alpha B-crystallin is expressed in non-lenticular tissues and accumulates in Alexander's disease brain

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7 January 2021

The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27

1 reference

7 January 2021

Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31

1 reference

7 January 2021

Characterization of human cDNA and genomic clones for glial fibrillary acidic protein.

1 reference

7 January 2021

The CpG dinucleotide and human genetic disease

1 reference

7 January 2021

The cytoskeleton and disease: genetic disorders of intermediate filaments

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7 January 2021

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

1 reference

7 January 2021

A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.

1 reference

7 January 2021

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

1 reference

7 January 2021

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

1 reference

7 January 2021

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation

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7 January 2021

Mice devoid of the glial fibrillary acidic protein develop normally and are susceptible to scrapie prions

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7 January 2021

Targeted deletion in astrocyte intermediate filament (Gfap) alters neuronal physiology

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7 January 2021

A familial disorder associated with palatal myoclonus, other brainstem signs, tetraparesis, ataxia and Rosenthal fibre formation

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7 January 2021

Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia

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7 January 2021

Light and electron microscopic observations on Rosenthal fibers in Alexander's disease and in multiple sclerosis

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7 January 2021

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

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7 January 2021

Accumulation of alpha B-crystallin in brains of patients with Alexander's disease is not due to an abnormality of the 5'-flanking and coding sequence of the genomic DNA

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7 January 2021

Alexander disease: a case report and review of the literature

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7 January 2021

GFAP promoter directs astrocyte-specific expression in transgenic mice.

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7 January 2021

Determination of the gene structure of human GFAP and absence of coding region mutations associated with frontotemporal dementia with parkinsonism linked to chromosome 17.

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7 January 2021

Identifiers

DOI

10.1038/83679

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30 July 2017

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