Detalhe da pesquisa
1.
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
2.
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis.
Hum Mol Genet
; 21(20): 4419-30, 2012 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22798623
3.
Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers.
Proc Natl Acad Sci U S A
; 106(15): 6220-5, 2009 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-19339494