Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy (Q35166263)

6 August 2017

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy (English)

1 reference

6 August 2017

Michael W Lawlor

1

1 reference

6 August 2017

Coen A Ottenheijm

2

1 reference

6 August 2017

Vilma-Lotta Lehtokari

3

1 reference

6 August 2017

Kiyomi Cho

4

1 reference

6 August 2017

Katarina Pelin

5

1 reference

6 August 2017

Carina Wallgren-Pettersson

6

1 reference

6 August 2017

Henk Granzier

7

1 reference

6 August 2017

Alan H Beggs

8

1 reference

6 August 2017

20 June 2011

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6 August 2017

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6 August 2017

1

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6 August 2017

1

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6 August 2017

23

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https://scigraph.springernature.com/pub.10.1186/2044-5040-1-23

6 August 2017

0 references

cites work

Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Nebulin, a major player in muscle health and 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=3156646

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Differential splicing of the large sarcomeric protein nebulin during skeletal muscle development

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Nebulin alters cross-bridge cycling kinetics and increases thin filament activation: a novel mechanism for increasing tension and reducing tension cost

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Nebulin plays a direct role in promoting strong actin-myosin interactions

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Arthrogryposis: a review and update

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Sarcoplasmic reticulum calcium uptake and speed of relaxation are depressed in nebulin-free skeletal muscle

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

The N-terminal end of nebulin interacts with tropomodulin at the pointed ends of the thin filaments.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Rate of force generation in muscle: correlation with actomyosin ATPase activity in solution

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156646

Genotype?phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle ?-actin

27 September 2018

1 reference

https://api.crossref.org/works/10.1186%2F2044-5040-1-23

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F2044-5040-1-23

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F2044-5040-1-23

Nebulin mutations in autosomal recessive nemaline myopathy: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F2044-5040-1-23

Nebulin expression in patients with nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F2044-5040-1-23

Myofibrillar ATPase activity in skinned human skeletal muscle fibres: fibre type and temperature dependence

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21798101

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/2044-5040-1-23

1 reference

Dimensions Publication ID

6 August 2017

0 references

1 reference

6 August 2017

1 reference