(Q40667747)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12609507%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

title

Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations (English)

1 reference

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31 October 2019

9

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31 October 2019

author name string

Marinos C Dalakas

1

1 reference

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31 October 2019

Ayush Dagvadorj

2

1 reference

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31 October 2019

Bertrand Goudeau

3

1 reference

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31 October 2019

Kye-Yoon Park

4

1 reference

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31 October 2019

Kazuyo Takeda

5

1 reference

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31 October 2019

Monique Simon-Casteras

6

1 reference

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31 October 2019

Olavo Vasconcelos

7

1 reference

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31 October 2019

Nyamkhishig Sambuughin

8

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31 October 2019

James W Nagle

10

1 reference

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31 October 2019

Kumaraswamy Sivakumar

11

1 reference

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31 October 2019

Patrick Vicart

12

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31 October 2019

Lev G Goldfarb

13

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31 October 2019

publication date

1 March 2003

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31 October 2019

published in

Neuromuscular Disorders

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31 October 2019

volume

13

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31 October 2019

page(s)

252-258

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31 October 2019

issue

3

1 reference

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Desmin-related neuromuscular disorders

31 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

Myofibrillar myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

A dysfunctional desmin mutation in a patient with severe generalized myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

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/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

Desmin splice variants causing cardiac and skeletal myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

Desmin mutation responsible for idiopathic dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

Intermediate filaments as mechanical integrators of cellular space

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

Intermediate filaments: structure, dynamics, function, and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

Cardiovascular lesions and skeletal myopathy in mice lacking desmin.

1 reference

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7 January 2021

Mouse model of desmin-related cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

A simple method for calculating the probability of excluding paternity with any number of codominant alleles

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

alpha-crystallin prevents irreversible protein denaturation and acts cooperatively with other heat-shock proteins to renature the stabilized partially denatured protein in an ATP-dependent manner

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

Specific Recognition of Coiled Coils by Infrared Spectroscopy: Analysis of the Three Structural Domains of Type III Intermediate Filament Proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

A structural scaffolding of intermediate filaments in health and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

On the parental origin of de novo mutation in man.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900271-7

7 January 2021

10.1016/S0960-8966(02)00271-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12609507%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference