Detalhe da pesquisa
1.
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy.
J Cell Sci
; 129(8): 1671-84, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26945058
2.
Cardiac involvement in female carriers of duchenne or becker muscular dystrophy.
Muscle Nerve
; 55(6): 810-818, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27761893
3.
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.
Brain
; 134(Pt 12): 3547-59, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22102647
4.
European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences.
J Neuromuscul Dis
; 3(4): 517-527, 2016 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27911335
5.
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping.
JAMA Neurol
; 71(1): 32-40, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24217213
6.
Exon skipping quantification by quantitative reverse-transcription polymerase chain reaction in Duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen.
Hum Gene Ther Methods
; 23(5): 336-45, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23075107
7.
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.
Neuromuscul Disord
; 20(4): 241-50, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20207543
8.
Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice.
Proteomics
; 6(22): 6075-84, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17051641
9.
Differential gene expression in a cell culture model of SOD1-related familial motor neurone disease.
Hum Mol Genet
; 11(17): 2061-75, 2002 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12165567