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Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIbFLN-1/filamin is required for maintenance of actin and exit of fertilized oocytes from the spermatheca in C. elegansChemical chaperone ameliorates pathological protein aggregation in plectin-deficient muscle.Myofibrillar myopathies: new developments.A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis.A novel intronic single nucleotide polymorphism in the myosin heavy polypeptide 4 gene is responsible for the mini-muscle phenotype characterized by major reduction in hind-limb muscle mass in miceA combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patientsDifferential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathySelective deletion of long but not short Cypher isoforms leads to late-onset dilated cardiomyopathy.Decreased levels of BAG3 in a family with a rare variant and in idiopathic dilated cardiomyopathyClinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.Rescue of αB Crystallin (HSPB5) Mutants Associated Protein Aggregation by Co-Expression of HSPB5 PartnersSarcoglycanopathies: molecular pathogenesis and therapeutic prospectsNew insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.Titin mutation segregates with hereditary myopathy with early respiratory failure.Voltage-Dependent Anion Channel 1(VDAC1) Participates the Apoptosis of the Mitochondrial Dysfunction in Desminopathy.Knockdown of desmin in zebrafish larvae affects interfilament spacing and mechanical properties of skeletal muscleTragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle diseaseClinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies.Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve.Biomechanical characterization of myofibrillar myopathies.Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.Interplay between the ubiquitin-proteasome system and autophagy in proteinopathies.FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency.Chaperone-assisted proteostasis is essential for mechanotransduction in mammalian cells.BAG3-related myofibrillar myopathy in a Chinese family.Sisyphus in Neverland.TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 03 September 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Molecular pathology of myofibrillar myopathies.
@en
Molecular pathology of myofibrillar myopathies.
@nl
type
label
Molecular pathology of myofibrillar myopathies.
@en
Molecular pathology of myofibrillar myopathies.
@nl
prefLabel
Molecular pathology of myofibrillar myopathies.
@en
Molecular pathology of myofibrillar myopathies.
@nl
P2860
P1476
Molecular pathology of myofibrillar myopathies
@en
P2093
Isidre Ferrer
P2860
P356
10.1017/S1462399408000793
P50
P577
2008-09-03T00:00:00Z