(Q35230968)

7 August 2017

GFAP mutations, age at onset, and clinical subtypes in Alexander disease (English)

1 reference

7 August 2017

1 reference

H Morizono

3

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Adeline Vanderver

object named as

A Vanderver

34

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Heather Gordish-Dressman

10

object named as

H Gordish-Dressman

1 reference

7 August 2017

M Prust

1

1 reference

7 August 2017

J Wang

2

1 reference

7 August 2017

A Messing

4

1 reference

7 August 2017

M Brenner

5

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7 August 2017

E Gordon

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7 August 2017

T Hartka

7

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7 August 2017

A Sokohl

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7 August 2017

R Schiffmann

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7 August 2017

R Albin

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7 August 2017

H Amartino

12

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7 August 2017

K Brockman

13

1 reference

7 August 2017

A Dinopoulos

14

1 reference

7 August 2017

M T Dotti

15

1 reference

7 August 2017

D Fain

16

1 reference

7 August 2017

R Fernandez

17

1 reference

7 August 2017

J Ferreira

18

1 reference

7 August 2017

J Fleming

19

1 reference

7 August 2017

D Gill

20

1 reference

7 August 2017

M Griebel

21

1 reference

7 August 2017

H Heilstedt

22

1 reference

7 August 2017

P Kaplan

23

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7 August 2017

D Lewis

24

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7 August 2017

M Nakagawa

25

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7 August 2017

R Pedersen

26

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7 August 2017

A Reddy

27

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7 August 2017

Y Sawaishi

28

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7 August 2017

M Schneider

29

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7 August 2017

E Sherr

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7 August 2017

Y Takiyama

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7 August 2017

K Wakabayashi

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7 August 2017

J R Gorospe

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7 August 2017

language of work or name

English

0 references

publication date

14 September 2011

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7 August 2017

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7 August 2017

77

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7 August 2017

13

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7 August 2017

1287-1294

1 reference

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 variant

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Can MR imaging diagnose adult-onset Alexander disease?

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Adult-onset Alexander disease with progressive ataxia and palatal tremor.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Discrepancy between neuroimaging findings and clinical phenotype in Alexander disease.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease?

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Alexander disease: a review and the gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

GFAP mutations in Alexander disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Alexander disease: diagnosis with MR imaging.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Alexander disease--classification revisited and isolation of a neonatal form

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Alexander's disease: clues to diagnosis.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Alexander's disease. A disease of astrocytes.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Alexander's disease: A report and reappraisal

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

[Juvenile form of Alexander's disease - a case confirmed by detection of mutation in GFAP gene].

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Early mitochondrial dysfunction in an infant with Alexander disease.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Infantile Alexander's disease. A case report.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

TRH therapy in a patient with juvenile Alexander disease.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Increased levels of GFAP in the cerebrospinal fluid in three subtypes of genetically confirmed Alexander disease.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Early cerebral images of Alexander disease: report of one case.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

MR imaging and 1H-MR spectroscopy in a case of juvenile Alexander disease

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Alexander disease and intermediate filaments in astrocytes: a fatal gain of function.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Adult-onset Alexander disease

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179649

Acute onset of fatal vegetative symptoms: unusual presentation of adult Alexander disease

15 November 2018

1 reference

12 December 2020

Alexander's disease in a neurologically normal child: a case report

1 reference

12 December 2020

1 reference

12 December 2020

Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene

1 reference

12 December 2020

Adult-onset Alexander disease with palatal myoclonus and intraventricular tumour

1 reference

12 December 2020

10.1212/WNL.0B013E3182309F72

Identifiers

DOI

1 reference

7 August 2017

1 reference

7 August 2017

1 reference