A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.

A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.

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http://www.wikidata.org/entity/Q34728529
Protein alterations in women with chronic widespread pain--An explorative proteomic study of the trapezius muscle.Molecular Signatures of Membrane Protein Complexes Underlying Muscular Dystrophy.The Classification, Natural History and Treatment of the Limb Girdle Muscular DystrophiesPosttranslational modifications of desmin and their implication in biological processes and pathologies.Genetic basis of limb-girdle muscular dystrophies: the 2014 updateAnesthetic considerations in myofibrillar myopathy.Desmin related disease: a matter of cell survival failure.The Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members.Costamere proteins and their involvement in myopathic processes.Early signs of architectural and biomechanical failure in isolated myofibers and immortalized myoblasts from desmin-mutant knock-in micePrenatal diagnosis of congenital myopathies and muscular dystrophies.Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissueType III Intermediate Filaments Desmin, Glial Fibrillary Acidic Protein (GFAP), Vimentin, and Peripherin.Molecular insights into cardiomyopathies associated with desmin (DES) mutationsLimb Girdle Muscular Dystrophy due to Digenic Inheritance of and Mutations
P2860

A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.

Item
http://www.wikidata.org/entity/Q34728529
description
2013 nî lūn-bûn
@nan
2013 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
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2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
A novel desmin mutation leadin ...... compared with desminopathies.
@ast
A novel desmin mutation leadin ...... compared with desminopathies.
@en
A novel desmin mutation leadin ...... compared with desminopathies.
@nl
type
label
A novel desmin mutation leadin ...... compared with desminopathies.
@ast
A novel desmin mutation leadin ...... compared with desminopathies.
@en
A novel desmin mutation leadin ...... compared with desminopathies.
@nl
prefLabel
A novel desmin mutation leadin ...... compared with desminopathies.
@ast
A novel desmin mutation leadin ...... compared with desminopathies.
@en
A novel desmin mutation leadin ...... compared with desminopathies.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
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P921
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P1433
P1476
A novel desmin mutation leadin ...... s compared with desminopathies
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P2093
P2860
P304
P31
P356
10.1136/JMEDGENET-2012-101487
P407
P433
P478
P50
P577
P5875
P698
P921