Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.

Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.

Item
http://www.wikidata.org/entity/Q30168391
Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2).Muscle giants: molecular scaffolds in sarcomerogenesis.Mutation update: the spectra of nebulin variants and associated myopathies.Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.Diagnostic immunohistochemistry in neuromuscular disorders.Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency.Nebulin alters cross-bridge cycling kinetics and increases thin filament activation: a novel mechanism for increasing tension and reducing tension cost.Myopathology in congenital myopathies.Expression of multiple nebulin isoforms in human skeletal muscle and brain.Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation
P2860

Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.

Item
http://www.wikidata.org/entity/Q30168391
description
2001 nî lūn-bûn
@nan
2001 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մարտին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.
@ast
Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.
@en
type
label
Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.
@ast
Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.
@en
prefLabel
Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.
@ast
Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.
@en
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy
@en
P2093
P304
P31
P356
10.1016/S0960-8966(00)00172-3
P433
P478
P50
P577
P698