Clinical course correlates poorly with muscle pathology in nemaline myopathy.
about
Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubesNemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order AmishNormal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenanceSevere myopathy in mice lacking the MEF2/SRF-dependent gene leiomodin-3Congenital myopathies: diseases of the actin cytoskeleton.Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle functionThe pathogenesis of ACTA1-related congenital fiber type disproportion.Phenotypes induced by NM causing alpha-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes.Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.Clinical heterogeneity in Korean patients with nemaline myopathy.Anaesthetic management of a case of distal myopathy.Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2).Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.Congenital fiber type disproportion--30 years on.Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutationsMuscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.Nemaline myopathy type 6: clinical and myopathological features.Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle.Multimodal MRI and (31)P-MRS investigations of the ACTA1(Asp286Gly) mouse model of nemaline myopathy provide evidence of impaired in vivo muscle function, altered muscle structure and disturbed energy metabolismPhenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures.Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene.Congenital myopathy caused by a novel missense mutation in the CFL2 gene.Clinical and pathological features of childhood-onset nemaline myopathy: a report of four cases.When contractile proteins go bad: the sarcomere and skeletal muscle disease.Inspiratory muscle training in a child with nemaline myopathy and organ transplantationDeleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency.Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.Actin isoform expression patterns during mammalian development and in pathology: insights from mouse models.Sarcomere Dysfunction in Nemaline Myopathy.alpha-Skeletal muscle actin mutants causing different congenital myopathies induce similar cytoskeletal defects in cell line cultures.Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination.Actin mutations are one cause of congenital fibre type disproportion.Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.Adult-onset nemaline myopathy in a dog presenting with persistent atrial standstill and primary hypothyroidism.Intranuclear nemaline rod myopathy.
P2860
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P2860
Clinical course correlates poorly with muscle pathology in nemaline myopathy.
description
2003 nî lūn-bûn
@nan
2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Clinical course correlates poorly with muscle pathology in nemaline myopathy.
@ast
Clinical course correlates poorly with muscle pathology in nemaline myopathy.
@en
Clinical course correlates poorly with muscle pathology in nemaline myopathy.
@nl
type
label
Clinical course correlates poorly with muscle pathology in nemaline myopathy.
@ast
Clinical course correlates poorly with muscle pathology in nemaline myopathy.
@en
Clinical course correlates poorly with muscle pathology in nemaline myopathy.
@nl
prefLabel
Clinical course correlates poorly with muscle pathology in nemaline myopathy.
@ast
Clinical course correlates poorly with muscle pathology in nemaline myopathy.
@en
Clinical course correlates poorly with muscle pathology in nemaline myopathy.
@nl
P2093
P50
P1433
P1476
Clinical course correlates poorly with muscle pathology in nemaline myopathy
@en
P2093
B Ilkovski
C D Strickland
D Muirhead
L K Shield
S T Iannaccone
P304
P356
10.1212/01.WNL.0000046585.81304.BC
P407
P577
2003-02-01T00:00:00Z