Detalhe da pesquisa
1.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
Am J Hum Genet
; 99(5): 1086-1105, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745833
2.
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.
Hum Mol Genet
; 24(22): 6278-92, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26307083
3.
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
Hum Mol Genet
; 24(21): 6146-59, 2015 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26293662
4.
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
Brain
; 136(Pt 2): 494-507, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23378224
5.
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
Am J Hum Genet
; 87(6): 842-7, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21109227
6.
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.
Am J Hum Genet
; 83(6): 714-24, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19026398
7.
Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.
J Neuropathol Exp Neurol
; 67(9): 867-77, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18716557
8.
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.
Ann Neurol
; 62(6): 597-608, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17705262
9.
Mechanisms underlying intranuclear rod formation.
Brain
; 130(Pt 12): 3275-84, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17928315
10.
Investigations into the pathobiology of thin-filament myopathies.
Adv Exp Med Biol
; 642: 55-65, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-19181093
11.
Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.
Neuromuscul Disord
; 16(2): 113-21, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16427282
12.
Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy.
Neuromuscul Disord
; 15(12): 829-35, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16288873
13.
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.
Eur J Hum Genet
; 23(6): 883-6, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25182138
14.
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
J Clin Invest
; 124(11): 4693-708, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25250574
15.
In vitro analysis of rod composition and actin dynamics in inherited myopathies.
J Neuropathol Exp Neurol
; 69(5): 429-41, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20418783
16.
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
Neuromuscul Disord
; 20(4): 229-37, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20227276
17.
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
J Clin Invest
; 125(1): 456-7, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25654555
18.
Tropomyosin 4 defines novel filaments in skeletal muscle associated with muscle remodelling/regeneration in normal and diseased muscle.
Cell Motil Cytoskeleton
; 65(1): 73-85, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17968984
19.
The pathogenesis of ACTA1-related congenital fiber type disproportion.
Ann Neurol
; 61(6): 552-61, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17387733
20.
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
Hum Mol Genet
; 13(16): 1727-43, 2004 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15198992