Detalhe da pesquisa
1.
Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.
J Med Genet
; 53(5): 348-55, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26831754
2.
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.
Am J Hum Genet
; 90(4): 628-35, 2012 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22482803
3.
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
Brain
; 136(Pt 11): 3408-17, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24030947
4.
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score.
Muscle Nerve
; 42(2): 213-7, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20544930
5.
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.
FASEB J
; 21(4): 1210-26, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17264171
6.
Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function.
Audiol Neurootol
; 13(1): 1-6, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-17715463
7.
The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure.
BMC Med Genet
; 8: 8, 2007 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-17335567
8.
Sleep quality in Facioscapulohumeral muscular dystrophy.
J Neurol Sci
; 263(1-2): 49-53, 2007 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17597162
9.
Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity.
J Clin Invest
; 127(4): 1531-1545, 2017 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28263188
10.
Ultrasound tissue characterization detects preclinical myocardial structural changes in children affected by Duchenne muscular dystrophy.
J Am Coll Cardiol
; 42(2): 309-16, 2003 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-12875769
11.
Upper girdle imaging in facioscapulohumeral muscular dystrophy.
PLoS One
; 9(6): e100292, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24932477
12.
Pulse field gel electrophoresis for the detection of facioscapulohumeral muscular dystrophy gene rearrangements.
Methods Mol Biol
; 217: 153-64, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-12491930
13.
Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia.
Eur Neurol
; 56(1): 1-5, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16804309
14.
Chimeric snRNA molecules carrying antisense sequences against the splice junctions of exon 51 of the dystrophin pre-mRNA induce exon skipping and restoration of a dystrophin synthesis in Delta 48-50 DMD cells.
Proc Natl Acad Sci U S A
; 99(14): 9456-61, 2002 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-12077324
15.
Integrated backscatter in Becker muscular dystrophy patients with functionally normal heart: myocardial ultrasound tissue characterization study.
J Am Coll Cardiol
; 47(3): 686-8, 2006 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-16458159