(Q28359825)

5 July 2017

0 references

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation (English)

1 reference

genotype-phenotype correlation

5 July 2017

main subject

1 reference

1 reference

1 reference

Rodriguez D

1

1 reference

5 July 2017

Gauthier F

2

1 reference

5 July 2017

Bertini E

3

1 reference

5 July 2017

Bugiani M

4

1 reference

5 July 2017

Brenner M

5

1 reference

5 July 2017

N'guyen S

6

1 reference

5 July 2017

Goizet C

7

1 reference

5 July 2017

Gelot A

8

1 reference

5 July 2017

Surtees R

9

1 reference

5 July 2017

Pedespan JM

10

1 reference

5 July 2017

Hernandorena X

11

1 reference

5 July 2017

Troncoso M

12

1 reference

5 July 2017

Uziel G

13

1 reference

5 July 2017

Messing A

14

1 reference

5 July 2017

Ponsot G

15

1 reference

5 July 2017

Pham-Dinh D

16

1 reference

5 July 2017

Dautigny A

17

1 reference

5 July 2017

Boespflug-Tanguy O

18

1 reference

5 July 2017

language of work or name

English

0 references

publication date

20 September 2001

1 reference

American Journal of Human Genetics

5 July 2017

published in

1 reference

5 July 2017

volume

69

1 reference

5 July 2017

issue

5

1 reference

5 July 2017

page(s)

1134-1140

1 reference

Alexander disease: new insights from genetics

5 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

Alexander disease: diagnosis with MR imaging.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

Fatal encephalopathy with astrocyte inclusions in GFAP transgenic mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

A structural scaffolding of intermediate filaments in health and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

Alexander's disease: clues to diagnosis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

Alexander's disease: A report and reappraisal

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

Astrocytes cultured from transgenic mice carrying the added human glial fibrillary acidic protein gene contain Rosenthal fibers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

Alexander disease: a case report and review of the literature

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

Mutations of Keratin 9 in Two Families with Palmoplantar Epidermolytic Hyperkeratosis

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

Alexander's disease. A disease of astrocytes

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

Dysmyelinogenic leukodystrophy; report of a case of a new, presumably familial type of leukodystrophy with megalobarencephaly.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

Cytoskeletal catastrophe causes brain degeneration.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274357

Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11567214

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/323799

1 reference

5 July 2017

1 reference

5 July 2017

1 reference