(Q73741071)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298680%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298680%20AND%20SRC:MED&resulttype=core&format=json

restrictive cardiomyopathy

6 November 2019

main subject

1 reference

1

1 reference

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6 November 2019

author name string

A Kumar

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298680%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

H J Stalker

3

1 reference

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6 November 2019

G Virdi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298680%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

V J Ferrans

5

1 reference

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6 November 2019

K Horiba

6

1 reference

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6 November 2019

F J Fricker

7

1 reference

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6 November 2019

M R Wallace

8

1 reference

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6 November 2019

publication date

1 April 2001

1 reference

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6 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298680%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

volume

59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298680%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

issue

4

1 reference

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6 November 2019

page(s)

248-256

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298680%20AND%20SRC:MED&resulttype=core&format=json

Restrictive Cardiomyopathy

6 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

Molecular basis of familial cardiomyopathies

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

Genetic basis of cardiomyopathy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

Pathogenesis of inherited forms of dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

Intermediate filaments: structure, dynamics, function, and disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

An unusual familial cardiomyopathy characterized by aberrant accumulations of desmin-type intermediate filaments

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

Desmin-related neuromuscular disorders

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

A dysfunctional desmin mutation in a patient with severe generalized myopathy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

Desmin mutation responsible for idiopathic dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

DNA banking: the effects of storage of blood and isolated DNA on the integrity of DNA

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

Restrictive Cardiomyopathy, Atrioventricular Block and Mild to Subclinical Myopathy in Patients With Desmin-Immunoreactive Material Deposits

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

Exclusion of cardiac myosin heavy chain and actin gene involvement in hypertrophic cardiomyopathy of several French families

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

Genetics of childhood disorders: IX. Triplet repeat disorders

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

Storage of phosphorylated desmin in a familial myopathy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590406.X

7 January 2021

10.1034/J.1399-0004.2001.590406.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11298680%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference