Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.
about
Congenital myopathies: an updatePathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusTargeting the sarcomere to correct muscle functionNebulin interactions with actin and tropomyosin are altered by disease-causing mutations.Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutationsNebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathyMuscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.Fast skeletal muscle troponin activation increases force of mouse fast skeletal muscle and ameliorates weakness due to nebulin-deficiency.Combined MRI and ³¹P-MRS investigations of the ACTA1(H40Y) mouse model of nemaline myopathy show impaired muscle function and altered energy metabolism.An integrated diagnosis strategy for congenital myopathies.Mutation update: the spectra of nebulin variants and associated myopathies.Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene.Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.Sarcomere Dysfunction in Nemaline Myopathy.Overview of the Muscle Cytoskeleton.Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.NEB-related core-rod myopathy with distinct clinical and pathological features.Molecular Genetics of Nemaline Myopathy
P2860
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P2860
Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Novel mutations in NEB cause a ...... n in severe nemaline myopathy.
@ast
Novel mutations in NEB cause a ...... n in severe nemaline myopathy.
@en
type
label
Novel mutations in NEB cause a ...... n in severe nemaline myopathy.
@ast
Novel mutations in NEB cause a ...... n in severe nemaline myopathy.
@en
prefLabel
Novel mutations in NEB cause a ...... n in severe nemaline myopathy.
@ast
Novel mutations in NEB cause a ...... n in severe nemaline myopathy.
@en
P2093
P2860
P356
P1433
P1476
Novel mutations in NEB cause a ...... n in severe nemaline myopathy.
@en
P2093
Alan H Beggs
Carina Wallgren-Pettersson
Coen A Ottenheijm
Henk Granzier
Katarina Pelin
Kiyomi Cho
Michael W Lawlor
Vilma-Lotta Lehtokari
P2860
P2888
P356
10.1186/2044-5040-1-23
P577
2011-06-20T00:00:00Z
P5875
P6179
1028236697