(Q48218417)

9 February 2018

title

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

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9 February 2018

author

Montse Olive

4

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9 February 2018

Hubert Kwieciński

11

object named as

Hubert Kwiecinski

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9 February 2018

author name string

Anna Kaminska

1

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9 February 2018

Sergei V Strelkov

2

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9 February 2018

Bertrand Goudeau

3

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9 February 2018

Ayush Dagvadorj

5

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9 February 2018

Anna Fidzianska

6

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9 February 2018

Monique Simon-Casteras

7

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9 February 2018

Alexey Shatunov

8

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9 February 2018

Marinos C Dalakas

9

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9 February 2018

Isidro Ferrer

10

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9 February 2018

Patrick Vicart

12

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9 February 2018

Lev G Goldfarb

13

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9 February 2018

publication date

27 November 2003

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9 February 2018

published in

Human Genetics

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9 February 2018

volume

114

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9 February 2018

issue

3

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9 February 2018

page(s)

306-313

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9 February 2018

https://scigraph.springernature.com/pub.10.1007/s00439-003-1057-7

exact match

0 references

cites work

Intermediate filament assembly: temperature sensitivity and polymorphism

1 reference

12 December 2020

Molecular architecture of intermediate filaments

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

1 reference

12 December 2020

Mouse model of desmin-related cardiomyopathy.

1 reference

12 December 2020

Desmin-related neuromuscular disorders

1 reference

12 December 2020

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

1 reference

12 December 2020

Heptad breaks in alpha-helical coiled coils: stutters and stammers

1 reference

12 December 2020

A dysfunctional desmin mutation in a patient with severe generalized myopathy

1 reference

12 December 2020

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

12 December 2020

Coiled coils: a highly versatile protein folding motif

1 reference

12 December 2020

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

1 reference

12 December 2020

Divide-and-conquer crystallographic approach towards an atomic structure of intermediate filaments

1 reference

12 December 2020

Analysis of alpha-helical coiled coils with the program TWISTER reveals a structural mechanism for stutter compensation.

1 reference

12 December 2020

Intermediate filaments: structure, dynamics, function, and disease

1 reference

12 December 2020

Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases

1 reference

12 December 2020

Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship

1 reference

12 December 2020

Structural and functional analysis of a new desmin variant causing desmin-related myopathy

1 reference

12 December 2020

Muscle-specific expression of a dominant negative desmin mutant in transgenic mice

1 reference

12 December 2020

Trinucleotide repeat expansion in neurological disease

1 reference

12 December 2020

10.1007/S00439-003-1057-7

Identifiers

DOI

1 reference

9 February 2018

release_wmvd3xczmjbv3c5zfxv7fdyplu

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wmvd3xczmjbv3c5zfxv7fdyplu

24 November 2022

mapped directly with Wikidata item

1 reference

9 February 2018