(Q37450661)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17418574%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

title

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene (English)

1 reference

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28 December 2019

1

1 reference

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28 December 2019

Aleksey Shatunov

10

1 reference

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28 December 2019

12

Isidre Ferrer

1 reference

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28 December 2019

5

Michel Fardeau

1 reference

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28 December 2019

author name string

Judith Armstrong

2

1 reference

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28 December 2019

Francesc Miralles

3

1 reference

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28 December 2019

Adolf Pou

4

1 reference

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28 December 2019

Laura Gonzalez

6

1 reference

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28 December 2019

Francesca Martínez

7

1 reference

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28 December 2019

Dirk Fischer

8

1 reference

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28 December 2019

Juan Antonio Martínez Matos

9

1 reference

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28 December 2019

Lev Goldfarb

11

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28 December 2019

publication date

5 April 2007

1 reference

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28 December 2019

published in

Neuromuscular Disorders

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28 December 2019

volume

17

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28 December 2019

issue

6

1 reference

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28 December 2019

page(s)

443-450

1 reference

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Sarcomeric protein mutations in dilated cardiomyopathy

28 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

Collagen VI related muscle disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

The intermediate filament protein consensus motif of helix 2B: its atomic structure and contribution to assembly

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

Desmin mutation responsible for idiopathic dilated cardiomyopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

A dysfunctional desmin mutation in a patient with severe generalized myopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

Intermediate filaments: structure, dynamics, function, and disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

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)

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

Myotilinopathy: refining the clinical and myopathological phenotype

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

[Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material without mutation of the alphabeta-crystallin gene]

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127195

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

2 September 2018

1 reference

12 December 2020

[Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material with mutation of the alphaB-cristallin gene]

1 reference

12 December 2020

Intermediate filaments as mechanical integrators of cellular space

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1016/J.NMD.2007.02.009

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17418574%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17418574%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference