Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
about
Myosin accumulation and striated muscle myopathy result from the loss of muscle RING finger 1 and 3Order and disorder in intermediate filament proteinsBAG3 and Hsc70 interact with actin capping protein CapZ to maintain myofibrillar integrity under mechanical stressMyofibrillar myopathiesDiagnostic impact of myotonic discharges in myofibrillar myopathies.[Myofibrillary myopathy due to the ZASP mutation Ala147Thr : two cases with exclusively distal leg involvement].Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutationSevere muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stagesActin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.Human alpha B-crystallin mutation causes oxido-reductive stress and protein aggregation cardiomyopathy in miceDifferential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathyA novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathyMutation in BAG3 causes severe dominant childhood muscular dystrophy.Decreased levels of BAG3 in a family with a rare variant and in idiopathic dilated cardiomyopathyMutations in the N-terminal actin-binding domain of filamin C cause a distal myopathyUnusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.Autophagic vacuolar pathology in desminopathies.From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies.Novel recessive myotilin mutation causes severe myofibrillar myopathy.Abnormal accumulation of desmin in gastrocnemius myofibers of patients with peripheral artery disease: associations with altered myofiber morphology and density, mitochondrial dysfunction and impaired limb function.Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathyCongenital myopathy caused by a novel missense mutation in the CFL2 gene.Diagnostic immunohistology of muscle diseases.Electron microscopy in neuromuscular disorders.Desminopathies: pathology and mechanisms.Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D.Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain.Suspected myofibrillar myopathy in Arabian horses with a history of exertional rhabdomyolysis.In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathyTragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle diseaseMolecular pathology of myofibrillar myopathies.Myofibrillar myopathies.Proteasome function is required to maintain muscle cellular architecture.Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease.Intermediate filament diseases: desminopathy.
P2860
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P2860
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
description
2004 nî lūn-bûn
@nan
2004 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
@ast
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
@en
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
@nl
type
label
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
@ast
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
@en
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
@nl
prefLabel
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
@ast
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
@en
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
@nl
P356
P1433
P1476
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
@en
P2093
P304
P356
10.1093/BRAIN/AWH052
P407
P577
2004-02-01T00:00:00Z