(Q36261518)

13 August 2017

Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells (English)

1 reference

13 August 2017

Caenorhabditis elegans

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author

Martin Dahl-Halvarsson

object named as

Martin Dahl-Halvarsson

1

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author name string

Malgorzata Pokrzywa

2

1 reference

13 August 2017

Manish Rauthan

3

1 reference

13 August 2017

Marc Pilon

4

1 reference

13 August 2017

Homa Tajsharghi

5

1 reference

13 August 2017

language of work or name

English

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publication date

26 January 2017

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13 August 2017

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13 August 2017

12

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13 August 2017

1

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13 August 2017

e0170613

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Creative Commons Attribution 4.0 International

13 August 2017

start time

26 January 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Myosinopathies: pathology and mechanisms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Fibre types in skeletal muscle: a personal account

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Myosins: a diverse superfamily

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Organization of human and mouse skeletal myosin heavy chain gene clusters is highly conserved

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Molecular diversity of myofibrillar proteins: gene regulation and functional significance

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Structure of the actin-myosin complex and its implications for muscle contraction

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Myosin isoforms in mammalian skeletal muscle

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

The genetics of Caenorhabditis elegans

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Efficient gene transfer in C.elegans: extrachromosomal maintenance and integration of transforming sequences

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Structure-function analysis of the motor domain of myosin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

The mammalian myosin heavy chain gene family

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

A 29 residue region of the sarcomeric myosin rod is necessary for filament formation.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Characterization of distinct mesenchymal-like cell populations from human skeletal muscle in situ and in vitro.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

A mutation in the beta-myosin rod associated with hypertrophic cardiomyopathy has an unexpected molecular phenotype.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Myosin storage (hyaline body) myopathy: a case report.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

A Caenorhabditis elegans model of the myosin heavy chain IIa E706K [corrected] mutation

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Normal growth and regenerating ability of myoblasts from unaffected muscles of facioscapulohumeral muscular dystrophy patients.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5268365

Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred

22 September 2018

1 reference

12 December 2020

Sequence analysis of mutations that affect the synthesis, assembly and enzymatic activity of the unc-54 myosin heavy chain of Caenorhabditis elegans

1 reference

12 December 2020

[Myosin storage myopathy: a rare subtype of protein aggregate myopathies]

1 reference

12 December 2020

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0170613

Identifiers

DOI

1 reference

release_6covgfoh7zgmragz4yguticva4

13 August 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6covgfoh7zgmragz4yguticva4

24 November 2022

mapped directly with Wikidata item

1 reference

13 August 2017

PubMed publication ID

28125727

1 reference