Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy
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A novel nemaline myopathy in the Amish caused by a mutation in troponin T1Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z linesNemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2Mutations in the nebulin gene associated with autosomal recessive nemaline myopathyPathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusTruncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathyNemaline myopathy: a clinical study of 143 casesIdentification 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 maintenanceLeiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophyThe nebulin SH3 domain is dispensable for normal skeletal muscle structure but is required for effective active load bearing in mouse.Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle functionThe Effects of Disease Models of Nuclear Actin Polymerization on the Nucleus.Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2).A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation.Alterations at the cross-bridge level are associated with a paradoxical gain of muscle function in vivo in a mouse model of nemaline myopathyTroponin activator augments muscle force in nemaline myopathy patients with nebulin mutationsDominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathyExpanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.Skeletal muscle repair in a mouse model of nemaline myopathy.Fast skeletal muscle troponin activation increases force of mouse fast skeletal muscle and ameliorates weakness due to nebulin-deficiency.Nemaline myopathy type 6: clinical and myopathological features.Combined MRI and ³¹P-MRS investigations of the ACTA1(H40Y) mouse model of nemaline myopathy show impaired muscle function and altered energy metabolism.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 metabolismMutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.Nemaline myopathy and heart failure: role of ivabradine; a case report.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.Tropomodulins and tropomyosins: working as a teamDeleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy.Myopathy with normal creatinine phosphokinase in a young manThin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency.
P2860
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P2860
Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy
description
1997 nî lūn-bûn
@nan
1997 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
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1997年論文
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1997年論文
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1997年論文
@zh-hk
1997年論文
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1997年論文
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1997年论文
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name
Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy
@ast
Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy
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Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy
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Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy
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type
label
Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy
@ast
Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy
@en
Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy
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Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy
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prefLabel
Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy
@ast
Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy
@en
Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy
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Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy
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P2860
P3181
P356
P1476
Nemaline myopathy: current con ...... nsortium and Nemaline Myopathy
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P2093
C Wallgren-Pettersson
P2860
P304
P3181
P356
10.1136/JMG.34.9.705
P407
P577
1997-09-01T00:00:00Z