(Q47843308)

6 February 2018

title

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

1 reference

6 February 2018

author name string

Park KY

1

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6 February 2018

Dalakas MC

2

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6 February 2018

Semino-Mora C

3

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6 February 2018

Lee HS

4

1 reference

6 February 2018

Litvak S

5

1 reference

6 February 2018

Takeda K

6

1 reference

6 February 2018

Ferrans VJ

7

1 reference

6 February 2018

Goldfarb LG

8

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6 February 2018

publication date

1 June 2000

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6 February 2018

published in

Clinical Genetics

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6 February 2018

volume

57

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6 February 2018

issue

6

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6 February 2018

page(s)

423-429

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6 February 2018

Disruption of muscle architecture and myocardial degeneration in mice lacking desmin

cites work

1 reference

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

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Intermediate filaments: structure, dynamics, function, and disease

21 January 2018

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

21 January 2018

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Desmin-related neuromuscular disorders

21 January 2018

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Missense mutations in desmin associated with familial cardiac and skeletal myopathy

21 January 2018

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A dysfunctional desmin mutation in a patient with severe generalized myopathy

21 January 2018

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Desmin mutation responsible for idiopathic dilated cardiomyopathy

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle

21 January 2018

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Exclusive paternal origin of new mutations in Apert syndrome

21 January 2018

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Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome

21 January 2018

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On the parental origin of de novo mutation in man.

21 January 2018

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Truncated desmin in PtK2 cells induces desmin-vimentin-cytokeratin coprecipitation, involution of intermediate filament networks, and nuclear fragmentation: a model for many degenerative diseases

21 January 2018

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Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments

21 January 2018

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Intermediate filaments as mechanical integrators of cellular space

21 January 2018

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Restrictive Cardiomyopathy, Atrioventricular Block and Mild to Subclinical Myopathy in Patients With Desmin-Immunoreactive Material Deposits

21 January 2018

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Assignment of human desmin gene to band 2q35 by nonradioactive in situ hybridization

21 January 2018

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7 January 2021

Autosomal dominant ?spheroid body myopathy?

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570604.X

7 January 2021

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

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7 January 2021

Hereditary distal myopathy with granulo-filamentous cytoplasmic inclusions containing desmin, dystrophin and vimentin

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7 January 2021

Cytoplasmic body myopathy: familial cases with accumulation of desmin and dystrophin. An immunohistochemical, immunoelectron microscopic and biochemical study

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7 January 2021

An unusual familial cardiomyopathy characterized by aberrant accumulations of desmin-type intermediate filaments

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570604.X

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/10.1034%2FJ.1399-0004.2000.570604.X

7 January 2021

Absence of intermediate filaments in a human adrenal cortex carcinoma-derived cell line

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570604.X

7 January 2021

10.1034/J.1399-0004.2000.570604.X

Identifiers

DOI

1 reference

6 February 2018

PubMed ID

10905661

1 reference

6 February 2018