Desmin-related myopathy (Q37780788)

23 August 2017

0 references

Desmin-related myopathy (English)

1 reference

23 August 2017

author name string

K Y van Spaendonck-Zwarts

1

1 reference

23 August 2017

L van Hessem

2

1 reference

23 August 2017

J D H Jongbloed

3

1 reference

23 August 2017

H E K de Walle

4

1 reference

23 August 2017

Y Capetanaki

5

1 reference

23 August 2017

A J van der Kooi

6

1 reference

23 August 2017

I M van Langen

7

1 reference

23 August 2017

M P van den Berg

8

1 reference

23 August 2017

J P van Tintelen

9

1 reference

23 August 2017

publication date

21 July 2010

1 reference

23 August 2017

1 reference

23 August 2017

volume

80

1 reference

23 August 2017

issue

4

1 reference

23 August 2017

page(s)

354-366

1 reference

23 August 2017

cites work

Myofibrillar myopathies

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Intermediate filament diseases: desminopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Distinct muscle imaging patterns in myofibrillar myopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

A dysfunctional desmin mutation in a patient with severe generalized myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Intermediate filaments: structural conservation and divergence

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Intermediate filaments: structure, dynamics, function, and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Muscle intermediate filaments and their links to membranes and membranous organelles

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Interference of amino-terminal desmin fragments with desmin filament formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Desmin and vimentin intermediate filament networks: their viscoelastic properties investigated by mechanical rheometry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Disease mutations in the "head" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Disruption of muscle architecture and myocardial degeneration in mice lacking desmin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

The absence of desmin leads to cardiomyocyte hypertrophy and cardiac dilation with compromised systolic function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Desmin cytoskeleton: a potential regulator of muscle mitochondrial behavior and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Desmin mediates TNF-alpha-induced aggregate formation and intercalated disk reorganization in heart failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Human alpha B-crystallin (CRYA2) gene mapped to chromosome 11q12-q23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Human alpha B-crystallin gene and preferential promoter function in lens

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Alpha B-crystallin mutation in dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Desmin-related neuromuscular disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

2009 focused update: ACCF/AHA Guidelines for the Diagnosis and Management of Heart Failure in Adults: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines: developed in collaboration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Bcl-2 overexpression corrects mitochondrial defects and ameliorates inherited desmin null cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

A novel desmin R355P mutation causes cardiac and skeletal myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Structural and functional analysis of a new desmin variant causing desmin-related myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Desmin mutation responsible for idiopathic dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Desmin splice variants causing cardiac and skeletal myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

A novel custom resequencing array for dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

The laminopathies: a clinical review

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Intermediate filaments as mechanical integrators of cellular space

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

Restrictive cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01512.X

10.1111/J.1399-0004.2010.01512.X

21 January 2018

Identifiers

DOI

1 reference

23 August 2017

1 reference