Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.
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Crystal Structure of the Nonerythroid -Spectrin Tetramerization Site Reveals Differences between Erythroid and Nonerythroid Spectrin Tetramer FormationMonitoring intermediate filament assembly by small-angle x-ray scattering reveals the molecular architecture of assembly intermediates.Two desmin gene mutations associated with myofibrillar myopathies in Polish familiesProtein alterations in women with chronic widespread pain--An explorative proteomic study of the trapezius muscle.Desminopathies in muscle disease.Desminopathies: pathology and mechanisms.Distinct muscle imaging patterns in myofibrillar myopathies.Structural and dynamic study of the tetramerization region of non-erythroid alpha-spectrin: a frayed helix revealed by site-directed spin labeling electron paramagnetic resonance.Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle diseaseMolecular pathology of myofibrillar myopathies.Build it up-Tear it down: protein quality control in the cardiac sarcomere.Intermediate filament diseases: desminopathy.Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.Pediatric cardiomyopathies: causes, epidemiology, clinical course, preventive strategies and therapies.Desmin-related myopathy.Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies.A quantitative kinetic model for the in vitro assembly of intermediate filaments from tetrameric vimentin.Molecular insights into cardiomyopathies associated with desmin (DES) mutations
P2860
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P2860
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.
description
2003 nî lūn-bûn
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2003年の論文
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2003年学术文章
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2003年学术文章
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name
Small deletions disturb desmin ...... al or cardioskeletal myopathy.
@en
Small deletions disturb desmin ...... al or cardioskeletal myopathy.
@nl
type
label
Small deletions disturb desmin ...... al or cardioskeletal myopathy.
@en
Small deletions disturb desmin ...... al or cardioskeletal myopathy.
@nl
prefLabel
Small deletions disturb desmin ...... al or cardioskeletal myopathy.
@en
Small deletions disturb desmin ...... al or cardioskeletal myopathy.
@nl
P2093
P1433
P1476
Small deletions disturb desmin ...... al or cardioskeletal myopathy.
@en
P2093
Alexey Shatunov
Anna Fidzianska
Anna Kaminska
Ayush Dagvadorj
Bertrand Goudeau
Hubert Kwiecinski
Isidro Ferrer
Lev G Goldfarb
Marinos C Dalakas
Monique Simon-Casteras
P2888
P304
P356
10.1007/S00439-003-1057-7
P50
P577
2003-11-27T00:00:00Z