(Q79177405)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14564412%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

title

A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14564412%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

A novel mutation, Arg71Thr, in the ?-sarcoglycan gene is associated with dilated cardiomyopathy (English)

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1007/S00109-003-0480-5

22 March 2024

main subject

dilated cardiomyopathy

1 reference

1 reference

https://api.crossref.org/works/10.1007/S00109-003-0480-5

22 March 2024

10

Johanna Kuusisto

1 reference

20 December 2019

Satu Kärkkäinen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14564412%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Raija Miettinen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14564412%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Petri Tuomainen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14564412%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Päivi Kärkkäinen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14564412%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Tiina Heliö

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14564412%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Eeva Reissell

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14564412%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Maija Kaartinen

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14564412%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Lauri Toivonen

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14564412%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Markku Laakso

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14564412%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Keijo Peuhkurinen

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14564412%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Markku S. Nieminen

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14564412

22 March 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14564412

22 March 2024

publication date

15 October 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14564412%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

20 December 2019

http://link.springer.com/content/pdf/10.1007/s00109-003-0480-5.pdf

file format

Portable Document Format

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1007/S00109-003-0480-5

http://link.springer.com/article/10.1007/s00109-003-0480-5/fulltext.html

22 March 2024

1 reference

https://api.crossref.org/works/10.1007/S00109-003-0480-5

http://link.springer.com/content/pdf/10.1007/s00109-003-0480-5

22 March 2024

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1007/S00109-003-0480-5

Journal of Molecular Medicine

22 March 2024

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14564412%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

volume

81

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14564412%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14564412%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

page(s)

795-800

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14564412%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00109-003-0480-5

20 December 2019

exact match

0 references

cites work

The Frequency of Familial Dilated Cardiomyopathy in a Series of Patients with Idiopathic Dilated Cardiomyopathy

1 reference

12 December 2020

No variants in the cardiac actin gene in Finnish patients with dilated or hypertrophic cardiomyopathy

1 reference

12 December 2020

Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.

1 reference

12 December 2020

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

1 reference

12 December 2020

Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy

1 reference

12 December 2020

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure

1 reference

12 December 2020

Metavinculin mutations alter actin interaction in dilated cardiomyopathy.

1 reference

12 December 2020

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

1 reference

12 December 2020

A novel X-linked gene, G4.5. is responsible for Barth syndrome

1 reference

12 December 2020

Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy

1 reference

12 December 2020

Desmin cytoskeleton in muscle integrity and function

1 reference

12 December 2020

Disruption of muscle architecture and myocardial degeneration in mice lacking desmin

1 reference

12 December 2020

Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein

1 reference

12 December 2020

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

12 December 2020

Frequency and phenotypes of familial dilated cardiomyopathy.

1 reference

12 December 2020

Immunolocalization of meta-vinculin in human smooth and cardiac muscles

1 reference

12 December 2020

Desmin mutation responsible for idiopathic dilated cardiomyopathy

1 reference

12 December 2020

Frequency and clinical characteristics of dilated cardiomyopathy caused by desmin gene mutation in a Japanese population

1 reference

12 December 2020

Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy.

1 reference

12 December 2020

Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy

1 reference

12 December 2020

Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute workshop

1 reference

12 December 2020

Epidemiology of desmin and cardiac actin gene mutations in a european population of dilated cardiomyopathy.

1 reference

12 December 2020

A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies

1 reference

12 December 2020

Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies.

1 reference

12 December 2020

Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2)

1 reference

12 December 2020

Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.

1 reference

12 December 2020

Many roads lead to a broken heart: the genetics of dilated cardiomyopathy

1 reference

12 December 2020

Null mutation in the desmin gene gives rise to a cardiomyopathy.

1 reference

12 December 2020

Limitations in the use of SSCP analysis

1 reference

12 December 2020

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy

1 reference

12 December 2020

X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus

1 reference

12 December 2020

The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity

1 reference

12 December 2020

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

1 reference

12 December 2020

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

1 reference

12 December 2020

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

1 reference

12 December 2020

Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes

1 reference

12 December 2020

Use of DNA toolbox for the characterization of mutation scanning methods. II: evaluation of single-strand conformation polymorphism analysis

1 reference

12 December 2020

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

1 reference

12 December 2020

A homozygous nonsense mutation in δ-sarcoglycan exon 3 in a case of LGMD2F

1 reference

12 December 2020

Familial dilated cardiomyopathy

1 reference

12 December 2020

Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy

1 reference

12 December 2020