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ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityNovel myosin-based therapies for congenital cardiac and skeletal myopathiesPoorly understood aspects of striated muscle contractionThe Myosin Chaperone UNC-45 Is Organized in Tandem Modules to Support Myofilament Formation in C. elegansPathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusTargeting the sarcomere to correct muscle functionAutosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.Mechanical tension and spontaneous muscle twitching precede the formation of cross-striated muscle in vivo.Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 geneA 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 miceHigh-resolution helix orientation in actin-bound myosin determined with a bifunctional spin label.Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 yearsEffects of FSGS-associated mutations on the stability and function of myosin-1 in fission yeast.Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case reportTwo novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy.Age- and Hypertension-Associated Protein Aggregates in Mouse Heart Have Similar Proteomic Profiles.Myosin heavy chain is stabilized by BCL-2 interacting cell death suppressor (BIS) in skeletal muscleEstrogen/ERR-α signaling axis is associated with fiber-type conversion of upper airway muscles in patients with obstructive sleep apnea hypopnea syndrome.MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.Nonlinear cross-bridge elasticity and post-power-stroke events in fast skeletal muscle actomyosin.Skeletal muscle fiber type: using insights from muscle developmental biology to dissect targets for susceptibility and resistance to muscle disease.Insights into the effects of disease-causing mutations in human actins.The sarcomeric M-region: a molecular command center for diverse cellular processes.Myopathology in congenital myopathies.Overview of the Muscle Cytoskeleton.Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.Developmental myosins: expression patterns and functional significance.Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2.Developmental MYH3 Myopathy Associated with Expression of Mutant Protein and Reduced Expression Levels of Embryonic MyHC.Hypothesis and theory: mechanical instabilities and non-uniformities in hereditary sarcomere myopathies.Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features.Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.Myosin VI localization and expression in striated muscle pathology.New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.Absolute quantification of myosin heavy chain isoforms by selected reaction monitoring can underscore skeletal muscle changes in a mouse model of amyotrophic lateral sclerosis.A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Myosinopathies: pathology and mechanisms.
@en
type
label
Myosinopathies: pathology and mechanisms.
@en
prefLabel
Myosinopathies: pathology and mechanisms.
@en
P2860
P921
P1476
Myosinopathies: pathology and mechanisms.
@en
P2093
Anders Oldfors
Homa Tajsharghi
P2860
P2888
P356
10.1007/S00401-012-1024-2
P577
2012-08-05T00:00:00Z
2013-01-01T00:00:00Z
P5875
P6179
1027271641