(Q43858895)

27 November 2017

title

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy (English)

1 reference

27 November 2017

7

T. Sevilla

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20733148

21 June 2024

10

P. Martí

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20733148

21 June 2024

13

J. J. Vílchez

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20733148

21 June 2024

author name string

N. Muelas

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20733148

21 June 2024

P. Hackman

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20733148

21 June 2024

H. Luque

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20733148

21 June 2024

M. Garcés-Sánchez

4

1 reference

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21 June 2024

I. Azorín

5

1 reference

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21 June 2024

T. Suominen

6

1 reference

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21 June 2024

F. Mayordomo

8

1 reference

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21 June 2024

L. Gómez

9

1 reference

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21 June 2024

J. María Millán

11

1 reference

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21 June 2024

B. Udd

12

1 reference

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21 June 2024

language of work or name

English

0 references

publication date

1 August 2010

1 reference

27 November 2017

24 August 2010

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20733148

full work available at URL

21 June 2024

http://intl.neurology.org/cgi/content/abstract/75/8/732

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20733148

https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0b013e3181eee4d5

21 June 2024

1 reference

https://api.crossref.org/works/10.1212/WNL.0B013E3181EEE4D5

21 June 2024

1 reference

27 November 2017

volume

75

1 reference

27 November 2017

issue

8

1 reference

27 November 2017

page(s)

732-741

1 reference

Clinical and genetic aspects of distal myopathies

27 November 2017

cites work

2

1 reference

https://api.crossref.org/works/10.1212/WNL.0B013E3181EEE4D5

Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.

21 June 2024

3

1 reference

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The Genetic Basis for Cardiomyopathy

21 June 2024

5

1 reference

https://api.crossref.org/works/10.1212/WNL.0B013E3181EEE4D5

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

21 June 2024

7

1 reference

https://api.crossref.org/works/10.1212/WNL.0B013E3181EEE4D5

Early onset chromosome 14-linked distal myopathy (Laing)

21 June 2024

8

1 reference

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21 June 2024

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Hereditary myosin myopathies

21 June 2024

10

1 reference

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New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7

21 June 2024

12

1 reference

https://api.crossref.org/works/10.1212/WNL.0B013E3181EEE4D5

Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation

21 June 2024

13

1 reference

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An autosomal dominant early adult-onset distal muscular dystrophy

21 June 2024

14

1 reference

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

21 June 2024

15

1 reference

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

21 June 2024

17

1 reference

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Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

21 June 2024

18

1 reference

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Correlation of clinical function and muscle CT scan images in limb-girdle muscular dystrophy

21 June 2024

19

1 reference

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Prenatal ethanol exposure alters the cytoskeleton and induces glycoprotein microheterogeneity in rat newborn hepatocytes.

21 June 2024

20

1 reference

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Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

21 June 2024

21

1 reference

https://api.crossref.org/works/10.1212/WNL.0B013E3181EEE4D5

21 June 2024

22

1 reference

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

21 June 2024

23

1 reference

https://api.crossref.org/works/10.1212/WNL.0B013E3181EEE4D5

Mutation of perinatal myosin heavy chain associated with a Carney complex variant

21 June 2024

24

1 reference

https://api.crossref.org/works/10.1212/WNL.0B013E3181EEE4D5

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

21 June 2024

25

1 reference

https://api.crossref.org/works/10.1212/WNL.0B013E3181EEE4D5

Mutation of the MYH7 gene in a child with hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome

21 June 2024

26

1 reference

https://api.crossref.org/works/10.1212/WNL.0B013E3181EEE4D5

Actin mutations are one cause of congenital fibre type disproportion

21 June 2024

27

1 reference

https://api.crossref.org/works/10.1212/WNL.0B013E3181EEE4D5

Mutations in TPM3 are a common cause of congenital fiber type disproportion

21 June 2024

28

1 reference

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SEPN1: associated with congenital fiber-type disproportion and insulin resistance

21 June 2024

29

1 reference

https://api.crossref.org/works/10.1212/WNL.0B013E3181EEE4D5

MEF2 responds to multiple calcium-regulated signals in the control of skeletal muscle fiber type

21 June 2024

30

1 reference

https://api.crossref.org/works/10.1212/WNL.0B013E3181EEE4D5

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy

21 June 2024

31

1 reference

https://api.crossref.org/works/10.1212/WNL.0B013E3181EEE4D5

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

21 June 2024

32

1 reference

https://api.crossref.org/works/10.1212/WNL.0B013E3181EEE4D5

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

21 June 2024

33

1 reference

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Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment

21 June 2024

34

1 reference

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The spectrum of pathology in central core disease

21 June 2024

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21 June 2024

Frontiers in bioscience

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21 June 2024

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1 reference

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

21 June 2024

38

1 reference

https://api.crossref.org/works/10.1212/WNL.0B013E3181EEE4D5

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

21 June 2024

39

1 reference

https://api.crossref.org/works/10.1212/WNL.0B013E3181EEE4D5

21 June 2024

Identifiers

1 reference

27 November 2017

1 reference