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.
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).
Ann Neurol
; 83(2): 269-282, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29328520
3.
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
4.
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
5.
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
Ann Neurol
; 80(1): 101-11, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27159402
6.
Mutation-specific effects on thin filament length in thin filament myopathy.
Ann Neurol
; 79(6): 959-69, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27074222
7.
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.
Am J Hum Genet
; 92(6): 965-73, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23664120
8.
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
Am J Hum Genet
; 93(6): 1108-17, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24268659
9.
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Am J Hum Genet
; 93(1): 6-18, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23746549
10.
Expanding the phenotype of GMPPB mutations.
Brain
; 138(Pt 4): 836-44, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25681410
11.
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
Brain
; 138(Pt 2): 293-310, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25497877
12.
Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues.
J Biol Chem
; 289(41): 28138-48, 2014 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25138275
13.
Mutation update: the spectra of nebulin variants and associated myopathies.
Hum Mutat
; 35(12): 1418-26, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25205138
14.
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Hum Mutat
; 35(7): 779-90, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24692096
15.
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
16.
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.
J Med Genet
; 50(6): 383-92, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23572184
17.
Recent advances in nemaline myopathy.
Curr Opin Neurol
; 26(5): 519-26, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23995272
18.
Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge.
Am J Med Genet A
; 161A(4): 659-66, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23427176
19.
Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.
Brain
; 135(Pt 6): 1714-23, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22628388
20.
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.
Muscle Nerve
; 46(2): 275-82, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22806379