On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. (Q40666053)

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scientific article published on March 2003

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English	On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.	scientific article published on March 2003

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1 November 2019

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

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1 November 2019

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1 November 2019

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1 November 2019

Wolfram S. Kunz

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1 November 2019

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Rolf Schröder

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1 November 2019

Bertrand Goudeau

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1 November 2019

Monique Casteras Simon

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1 November 2019

Dirk Fischer

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1 November 2019

Thomas Eggermann

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1 November 2019

Christoph S Clemen

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1 November 2019

Jens Reimann

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1 November 2019

Sabine Rudnik-Schöneborn

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1 November 2019

Klaus Zerres

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1 November 2019

Peter F M van der Ven

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1 November 2019

Dieter O Fürst

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1 November 2019

Patrick Vicart

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1 November 2019

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1 March 2003

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1 November 2019

Human Molecular Genetics

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1 November 2019

12

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1 November 2019

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1 November 2019

657-669

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1 November 2019

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG060

21 January 2018

A dysfunctional desmin mutation in a patient with severe generalized myopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG060

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG060

21 January 2018

Desmin splice variants causing cardiac and skeletal myopathy

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG060

21 January 2018

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/10.1093%2FHMG%2FDDG060

21 January 2018

A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG060

21 January 2018

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

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21 January 2018

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

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG060

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG060

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG060

21 January 2018

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

1 reference

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21 January 2018

Association of mitochondria with plectin and desmin intermediate filaments in striated muscle

1 reference

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21 January 2018

Desmin-related myopathies in mice and man.

1 reference

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21 January 2018

Cardiovascular lesions and skeletal myopathy in mice lacking desmin

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG060

21 January 2018

Disruption of muscle architecture and myocardial degeneration in mice lacking desmin

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG060

21 January 2018

Molecular characteristics and interactions of the intermediate filament protein synemin. Interactions with alpha-actinin may anchor synemin-containing heterofilaments

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG060

21 January 2018

Association of plectin with Z-discs is a prerequisite for the formation of the intermyofibrillar desmin cytoskeleton.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG060

21 January 2018

Human synemin gene generates splice variants encoding two distinct intermediate filament proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG060

21 January 2018

Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy

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21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDG060

21 January 2018

Desmin - Protein Surplus Myopathies, 96th European Neuromuscular Centre (ENMC)-sponsored International Workshop held 14-16 September 2001, Naarden, The Netherlands.

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https://api.crossref.org/works/10.1093%2FHMG%2FDDG060

21 January 2018

Syncoilin, a novel member of the intermediate filament superfamily that interacts with alpha-dystrobrevin in skeletal muscle

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21 January 2018

Association of syncoilin and desmin: linking intermediate filament proteins to the dystrophin-associated protein complex

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21 January 2018

Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function.

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21 January 2018

Effects of desmin gene knockout on mice heart mitochondria

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21 January 2018

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

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21 January 2018

Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology

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21 January 2018

Immunocytochemical identification of cytoskeletal linkages to smooth muscle cell nuclei and mitochondria

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Improvement of the solubilization of proteins in two-dimensional electrophoresis with immobilized pH gradients

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21 January 2018

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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21 January 2018

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

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A neutral magnesium-dependent sphingomyelinase isoform associated with intracellular membranes and reversibly inhibited by reactive oxygen species

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21 January 2018

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