(Q24649442)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Albert de la Chapelle

object named as

A de la Chapelle

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

K Pelin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

P Hilpelä

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

C Sewry

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

P A Akkari

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

S D Wilton

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

D Wattanasirichaigoon

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

T Centner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

F Hanefeld

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

S Odent

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

M Fardeau

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

J A Urtizberea

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

F Muntoni

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

V Dubowitz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

N G Laing

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

S Labeit

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

C Wallgren-Pettersson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

language of work or name

English

0 references

publication date

1 March 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

11 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

page(s)

2305-2310

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity

11 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26779

Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26779

Molecular structure of the sarcomeric Z-disk: two types of titin interactions lead to an asymmetrical sorting of alpha-actinin.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26779

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26779

The complete primary structure of human nebulin and its correlation to muscle structure

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26779

A comprehensive genetic map of the human genome based on 5,264 microsatellites

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26779

Nebulette: a 107 kD nebulin-like protein in cardiac muscle

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26779

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26779

Nebulin, a helical actin binding protein

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26779

A sarcomeric alpha-actinin truncated at the carboxyl end induces the breakdown of stress fibers in PtK2 cells and the formation of nemaline-like bodies and breakdown of myofibrils in myotubes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26779

Dispensability of the actin-binding site and spectrin repeats for targeting sarcomeric alpha-actinin into maturing Z bands in vivo: implications for in vitro binding studies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26779

Correlation Between Conformational and Binding Properties of Nebulin Repeats

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=26779

Fast and sensitive silver staining of DNA in polyacrylamide gels

28 November 2018

1 reference

12 December 2020

A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis

1 reference

12 December 2020

Binding of the N-terminal 63 kDa portion of connectin/titin to alpha-actinin as revealed by the yeast two-hybrid system

1 reference

12 December 2020

Tissue-specific expression and alpha-actinin binding properties of the Z-disc titin: implications for the nature of vertebrate Z-discs

1 reference

12 December 2020

Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy

1 reference

12 December 2020

51st ENMC International Workshop: Nemaline Myopathy. 13-15 June 1997, Naarden, The Netherlands

1 reference

12 December 2020

Genetics of the nemaline myopathies and the myotubular myopathies

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.96.5.2305

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

PubMed publication ID

10051637

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10051637%20AND%20SRC:MED&resulttype=core&format=json