(Q33157399)

23 July 2017

title

Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin (English)

1 reference

23 July 2017

1 reference

1 reference

Gerard Piñol-Ripoll

1

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23 July 2017

Alexey Shatunov

2

1 reference

23 July 2017

Ana Cabello

3

1 reference

23 July 2017

Pilar Larrodé

4

1 reference

23 July 2017

Iris de la Puerta

5

1 reference

23 July 2017

Juana Pelegrín

6

1 reference

23 July 2017

Feliciano J Ramos

7

1 reference

23 July 2017

Montse Olivé

8

1 reference

23 July 2017

Lev G Goldfarb

9

1 reference

23 July 2017

language of work or name

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9 May 2009

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23 July 2017

published in

Neuromuscular Disorders

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23 July 2017

volume

19

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23 July 2017

issue

6

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23 July 2017

page(s)

418-422

1 reference

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.

23 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695848

Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695848

A dysfunctional desmin mutation in a patient with severe generalized myopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695848

Structure and assembly properties of the intermediate filament protein vimentin: the role of its head, rod and tail domains

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695848

Intermediate filaments: structure, dynamics, function, and disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695848

Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695848

Primary prevention of sudden death in patients with lamin A/C gene mutations.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695848

Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695848

Prophylactic implantable cardioverter defibrillator placement in a sporadic desmin related myopathy and cardiomyopathy

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695848

Molecular dissection of the interaction of desmin with the C-terminal region of nebulin

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695848

Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1

31 October 2018

1 reference

12 December 2020

Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle

1 reference

12 December 2020

Assignment of human desmin gene to band 2q35 by nonradioactive in situ hybridization

1 reference

12 December 2020

Molecular analysis of intermediate filament cytoskeleton--a putative load-bearing structure

1 reference

12 December 2020

10.1016/J.NMD.2009.04.004

Identifiers

DOI

1 reference

23 July 2017

1 reference

23 July 2017

1 reference