(Q36615888)

15 August 2017

Archetypal and new families with Alexander disease and novel mutations in GFAP. (English)

1 reference

15 August 2017

1 reference

J Paul Taylor

4

0 references

author name string

Albee Messing

1

1 reference

15 August 2017

Rong Li

2

1 reference

15 August 2017

Sakkubai Naidu

3

1 reference

15 August 2017

Lital Silverman

5

1 reference

15 August 2017

Daniel Flint

6

1 reference

15 August 2017

Marjo S van der Knaap

7

1 reference

15 August 2017

Michael Brenner

8

1 reference

15 August 2017

10 October 2011

1 reference

15 August 2017

Archives of Neurology

1 reference

15 August 2017

69

1 reference

15 August 2017

2

1 reference

15 August 2017

208-214

1 reference

The clinical spectrum of late-onset Alexander disease: a systematic literature review.

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574575

Atomic structure of vimentin coil 2

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574575

Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574575

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574575

The clinicopathological spectrum of Rosenthal fibre encephalopathy and Alexander's disease: a case report and review of the literature

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574575

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574575

Fatal encephalopathy with astrocyte inclusions in GFAP transgenic mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574575

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574575

Familiarity, recessivity and germline mosaicism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574575

Propensity for paternal inheritance of de novo mutations in Alexander disease.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574575

Rosenthal fiber encephalopathy presenting with demyelination and Rosenthal fibers in a solvent abuser: adult Alexander's disease?

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574575

Alexander's disease in an adult. Report of a case

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574575

Biopsy diagnosis of familial Alexander's disease

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574575

Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574575

Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574575

Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574575

Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574575

Cytoskeletal catastrophe causes brain degeneration.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574575

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3574575

Absence of intermediate filaments in a human adrenal cortex carcinoma-derived cell line

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21987397

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The endless story of the glial fibrillary acidic protein

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21987397

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21987397

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/ARCHNEUROL.2011.1181

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

21987397

1 reference