Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain (Q36553090)

14 August 2017

Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain (English)

1 reference

14 August 2017

Alexey Shatunov

7

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author name string

Paul Maddison

1

1 reference

14 August 2017

Maxwell S Damian

2

1 reference

14 August 2017

Caroline Sewry

3

1 reference

14 August 2017

Catherine McGorrian

4

1 reference

14 August 2017

John B Winer

5

1 reference

14 August 2017

Zagaa Odgerel

6

1 reference

14 August 2017

Hee Suk Lee

8

1 reference

14 August 2017

Lev G Goldfarb

9

1 reference

14 August 2017

5 October 2012

1 reference

14 August 2017

1 reference

14 August 2017

68

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14 August 2017

5

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14 August 2017

279-286

1 reference

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

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551980

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551980

Intermediate filament diseases: desminopathy.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551980

30 September 2017

Myofibrillar myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551980

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551980

Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551980

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551980

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551980

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551980

Desmin mutation responsible for idiopathic dilated cardiomyopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551980

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551980

Truncation mutagenesis of the non-alpha-helical carboxyterminal tail domain of vimentin reveals contributions to cellular localization but not to filament assembly

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551980

Desmin-related neuromuscular disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551980

A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (author's transl)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551980

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

28 June 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up

21 January 2018

1 reference

Mutations in desmin's carboxy-terminal "tail" domain severely modify filament and network mechanics

21 January 2018

1 reference

12 December 2020

Duchenne muscular dystrophy: MR grading system with functional correlation

1 reference

12 December 2020

Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1159/000341617

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

23051780

1 reference