Desmin-related myopathies in mice and man. (Q34285865)

1 August 2017

1 reference

title

Desmin-related myopathies in mice and man. (English)

1 reference

1 August 2017

Carlsson L

1

1 reference

PubMed ID

11412147

1 August 2017

Thornell LE

series ordinal

2

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PubMed ID

11412147

1 August 2017

language of work or name

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1 March 2001

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1 August 2017

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1 August 2017

171

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1 August 2017

3

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1 August 2017

341-348

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Supramolecular organization of the subsarcolemmal cytoskeleton of adult skeletal muscle fibers. A review

1 August 2017

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Properties of the novel intermediate filament protein synemin and its identification in mammalian muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Anti-vimentin staining in muscle pathology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Isolation of a new high molecular weight protein associated with desmin and vimentin filaments from avian embryonic skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Nestin is expressed during development and in myotendinous and neuromuscular junctions in wild type and desmin knock-out mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Intermediate (skeletin) filaments in heart Purkinje fibers. A correlative morphological and biochemical identification with evidence of a cytoskeletal function

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Desmin and vimentin as markers of regeneration in muscle diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Desmin-related neuromuscular disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Congenital myopathies with inclusion bodies: a brief review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Familial desmin-related myopathies and cardiomyopathies--from myopathology to molecular and clinical genetics. 36th European Neuromuscular Center (ENMC)-Sponsored International Workshop 20-22 October, 1995, Naarden, The Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Synemin: a new high molecular weight protein associated with desmin and vimentin filaments in muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Abnormal localization of laminin subunits in muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Molecular characteristics of the novel intermediate filament protein paranemin. Sequence reveals EAP-300 and IFAPa-400 are highly homologous to paranemin

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

A locus on chromosome 7 determines myocardial cell necrosis and calcification (dystrophic cardiac calcinosis) in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Myogenesis and the intermediate filament protein, nestin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Intermediate filaments in cardiac myogenesis: nestin in the developing mouse heart.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Cellular adaptation of the trapezius muscle in strength-trained athletes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Transient coexpression of desmin and cytokeratins 8 and 18 in developing myocardial cells of some vertebrate species.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Intermediate Filaments: A Chemically Heterogeneous, Developmentally Regulated Class of Proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Desmin mutation responsible for idiopathic dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Cardiovascular lesions and skeletal myopathy in mice lacking desmin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

The absence of desmin leads to cardiomyocyte hypertrophy and cardiac dilation with compromised systolic function

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Disruption of muscle architecture and myocardial degeneration in mice lacking desmin

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

A dysfunctional desmin mutation in a patient with severe generalized myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Ten years of gene targeting: targeted mouse mutants, from vector design to phenotype analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

A vinculin-containing cortical lattice in skeletal muscle: transverse lattice elements ("costameres") mark sites of attachment between myofibrils and sarcolemma

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Expression of intermediate filament-associated proteins paranemin and synemin in chicken development

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Vimentin and desmin in maturing skeletal muscle and developmental myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Immunogold EM reveals a close association of plectin and the desmin cytoskeleton in human skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Viewpoint: are studies in genetically altered mice out of control?

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

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

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

The cytoskeletal lattice of muscle cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Plectin: a cytolinker by design

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Specific and innervation-regulated expression of the intermediate filament protein nestin at neuromuscular and myotendinous junctions in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Cytoskeletal control of myogenesis: a desmin null mutation blocks the myogenic pathway during embryonic stem cell differentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Distribution of nestin in the developing mouse limb bud in vivo and in micro-mass cultures of cells isolated from limb buds.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

Immunocytochemical characterisation of two generations of fibers during the development of the human quadriceps muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-201X.2001.00837.X

10.1046/J.1365-201X.2001.00837.X

21 January 2018

Identifiers

DOI

1 reference

1 August 2017

1 reference

PubMed ID

11412147