(Q36908708)

17 August 2017

Splice site, frameshift, and chimeric GFAP mutations in Alexander disease (English)

1 reference

17 August 2017

1 reference

6

Alan Percy

1 reference

17 August 2017

Daniel Flint

1

1 reference

17 August 2017

Rong Li

2

1 reference

17 August 2017

Lital S Webster

3

1 reference

17 August 2017

Sakkubai Naidu

4

1 reference

17 August 2017

Edwin Kolodny

5

1 reference

17 August 2017

Marjo van der Knaap

7

1 reference

17 August 2017

James M Powers

8

1 reference

17 August 2017

John F Mantovani

9

1 reference

17 August 2017

Josef Ekstein

10

1 reference

17 August 2017

James E Goldman

11

1 reference

17 August 2017

Albee Messing

12

1 reference

17 August 2017

Michael Brenner

13

1 reference

17 August 2017

30 April 2012

1 reference

17 August 2017

1 reference

17 August 2017

33

1 reference

17 August 2017

7

1 reference

17 August 2017

1141-1148

1 reference

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

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674965

GFAP and its role in 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=3674965

A 13-bp deletion in alpha(IIb) gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombasthenia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674965

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of 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=3674965

Acute effects of desmin mutations on cytoskeletal and cellular integrity in cardiac myocytes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674965

GFAP mutations in 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=3674965

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=3674965

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=3674965

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674965

Characterization of dominant and recessive assembly-defective mutations in mouse neurofilament NF-M.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674965

A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674965

Overexpression of wild-type and dominant negative mutant vimentin subunits in developing Xenopus embryos

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674965

Propensity for paternal inheritance of de novo mutations in 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=3674965

Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674965

Effects of truncated neurofilament proteins on the endogenous intermediate filaments in transfected fibroblasts.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674965

The fingernails of Mary Sullivan: developing reliable methods for selectively isolating endogenous and exogenous DNA from evidence.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674965

Disruption of intermediate filament organization leads to structural defects at the intersomite junction in Xenopus myotomal muscle.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674965

Retroviruses as probes for mammalian development: allocation of cells to the somatic and germ cell lineages.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674965

Novel deletion mutation in GFAP gene in an infantile form of Alexander disease

4 September 2018

1 reference

12 December 2020

Identification and characterization of -3c-g acceptor splice site mutation in human α- l-iduronidase associated with mucopolysaccharidosis type IH/S

1 reference

12 December 2020

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

1 reference

12 December 2020

Effects of intermediate filament disruption on the early development of the peripheral nervous system of Xenopus laevis

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.22094

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

22488673

1 reference