(Q79554774)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17221859%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

title

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

1 reference

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24 December 2019

3

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24 December 2019

Aleksey Shatunov

6

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24 December 2019

11

Hugo A Katus

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24 December 2019

12

Michel Fardeau

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24 December 2019

author name string

Harald Bär

1

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24 December 2019

Bertrand Goudeau

2

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24 December 2019

Monique Casteras-Simon

4

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24 December 2019

Norbert Mücke

5

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24 December 2019

Y Paul Goldberg

7

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24 December 2019

Charles Clarke

8

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24 December 2019

Janice L Holton

9

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24 December 2019

Bruno Eymard

10

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24 December 2019

Lev Goldfarb

13

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24 December 2019

Patrick Vicart

14

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24 December 2019

Harald Herrmann

15

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24 December 2019

publication date

1 April 2007

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24 December 2019

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24 December 2019

volume

28

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24 December 2019

issue

4

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24 December 2019

page(s)

374-386

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The genetic basis for cardiac remodeling

24 December 2019

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

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7 January 2021

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7 January 2021

Impact of disease mutations on the desmin filament assembly process

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7 January 2021

The nonhelical tail domain of keratin 14 promotes filament bundling and enhances the mechanical properties of keratin intermediate filaments in vitro

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7 January 2021

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7 January 2021

Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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

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7 January 2021

A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema.

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7 January 2021

Defining the properties of the nonhelical tail domain in type II keratin 5: insight from a bullous disease-causing mutation

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7 January 2021

Myotilin is mutated in limb girdle muscular dystrophy 1A

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7 January 2021

myotilin Mutation found in second pedigree with LGMD1A

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Functional complexity of intermediate filament cytoskeletons: from structure to assembly to gene ablation

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7 January 2021

Intermediate filaments: molecular structure, assembly mechanism, and integration into functionally distinct intracellular Scaffolds

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7 January 2021

Isolation, characterization, and in vitro assembly of intermediate filaments.

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Desmin is essential for the tensile strength and integrity of myofibrils but not for myogenic commitment, differentiation, and fusion of skeletal muscle

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7 January 2021

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7 January 2021

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7 January 2021

Mitochondrial dysfunction and apoptosis underlie the pathogenic process in alpha-B-crystallin desmin-related cardiomyopathy

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

1 reference

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20459

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17221859%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

1 reference