Detalhe da pesquisa
1.
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.
Biochim Biophys Acta
; 1839(11): 1196-204, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25088175
2.
Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations.
Hum Mutat
; 35(9): 1114-22, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-24931141
3.
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).
Ann Neurol
; 68(4): 554-9, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20976771
4.
Homozygous THAP1 mutations as cause of early-onset generalized dystonia.
Mov Disord
; 26(5): 858-61, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21425335
5.
Truncating mutations in THAP1 define the nuclear localization signal.
Mov Disord
; 26(8): 1565-7, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21495072
6.
Identification and functional analysis of novel THAP1 mutations.
Eur J Hum Genet
; 20(2): 171-5, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-21847143