(Q35942142)

11 August 2017

Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D. (English)

1 reference

11 August 2017

0 references

K Y van Spaendonck-Zwarts

1

1 reference

11 August 2017

A J van der Kooi

2

1 reference

11 August 2017

M P van den Berg

3

1 reference

11 August 2017

E F Ippel

4

1 reference

11 August 2017

L G Boven

5

1 reference

11 August 2017

W-C Yee

6

1 reference

11 August 2017

A van den Wijngaard

7

1 reference

11 August 2017

E Brusse

8

1 reference

11 August 2017

J E Hoogendijk

9

1 reference

11 August 2017

P A Doevendans

10

1 reference

11 August 2017

M de Visser

11

1 reference

11 August 2017

J D H Jongbloed

12

1 reference

11 August 2017

J P van Tintelen

13

1 reference

11 August 2017

language of work or name

1 reference

1 May 2012

1 reference

Netherlands Heart Journal

11 August 2017

1 reference

11 August 2017

20

1 reference

11 August 2017

5

1 reference

11 August 2017

219-228

1 reference

11 August 2017

Desmin-related myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346870

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346870

The biology of desmin filaments: how do mutations affect their structure, assembly, and organisation?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346870

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346870

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346870

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346870

Desmin-related neuromuscular disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346870

Inflammatory myopathy in scapulo-ilio-peroneal atrophy with cardiopathy. A study of two families

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3346870

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

11 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12471-011-0233-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12471-011-0233-Y

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/10.1007%2FS12471-011-0233-Y

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/10.1007%2FS12471-011-0233-Y

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22215463

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22215463

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22215463

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S12471-011-0233-Y

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

22215463

1 reference