(Q40251775)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865695%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

title

Variable pathogenic potentials of mutations located in the desmin alpha-helical domain (English)

1 reference

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27 December 2019

11

1 reference

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27 December 2019

Thomas Sejersen

12

1 reference

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27 December 2019

author name string

Bertrand Goudeau

1

1 reference

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27 December 2019

Fernando Rodrigues-Lima

2

1 reference

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27 December 2019

Dirk Fischer

3

1 reference

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27 December 2019

Monique Casteras-Simon

4

1 reference

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27 December 2019

Nyamkhishig Sambuughin

5

1 reference

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27 December 2019

Marianne de Visser

6

1 reference

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27 December 2019

Pascal Laforet

7

1 reference

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27 December 2019

Xavier Ferrer

8

1 reference

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27 December 2019

Françoise Chapon

9

1 reference

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27 December 2019

Gunnar Sjöberg

10

1 reference

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27 December 2019

Marinos C Dalakas

13

1 reference

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27 December 2019

Lev G Goldfarb

14

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27 December 2019

Patrick Vicart

15

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27 December 2019

publication date

1 September 2006

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27 December 2019

1 reference

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27 December 2019

volume

27

1 reference

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27 December 2019

issue

9

1 reference

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27 December 2019

page(s)

906-913

1 reference

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Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle

27 December 2019

cites work

1 reference

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7 January 2021

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

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7 January 2021

Coiled coils: a highly versatile protein folding motif

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7 January 2021

Structural features in the heptad substructure and longer range repeats of two-stranded alpha-fibrous proteins

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20351

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20351

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

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7 January 2021

Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies

1 reference

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7 January 2021

Intermediate filaments: structure, dynamics, function, and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20351

7 January 2021

The amino acid sequence of chicken muscle desmin provides a common structural model for intermediate filament proteins.

1 reference

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7 January 2021

121st ENMC International Workshop on Desmin and Protein Aggregate Myopathies. 7-9 November 2003, Naarden, The Netherlands

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7 January 2021

Progress in desmin-related myopathies

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7 January 2021

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

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7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20351

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7 January 2021

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

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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

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

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7 January 2021

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

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7 January 2021

AQUA and PROCHECK-NMR: programs for checking the quality of protein structures solved by NMR

1 reference

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7 January 2021

Interactions between brain mitochondria and cytoskeleton: evidence for specialized outer membrane domains involved in the association of cytoskeleton-associated proteins to mitochondria in situ and in vitro

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20351

7 January 2021

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

1 reference

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7 January 2021

Cardiovascular lesions and skeletal myopathy in mice lacking desmin.

1 reference

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7 January 2021

Influence of proline residues on protein conformation

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7 January 2021

A dysfunctional desmin mutation in a patient with severe generalized myopathy

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation

1 reference

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7 January 2021

Microdissection of the sequence and structure of intermediate filament chains

1 reference

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7 January 2021

On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20351

7 January 2021

Sequence comparisons of intermediate filament chains: evidence of a unique functional/structural role for coiled-coil segment 1A and linker L1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20351

7 January 2021

Conserved segments 1A and 2B of the intermediate filament dimer: their atomic structures and role in filament assembly

1 reference

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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