Detalhe da pesquisa
1.
Translational effects and coding potential of an upstream open reading frame associated with DOPA Responsive Dystonia.
Biochim Biophys Acta Mol Basis Dis
; 1863(6): 1171-1182, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28366877
2.
Molecular pathways in dystonia.
Neurobiol Dis
; 42(2): 136-47, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21134457
3.
Regulation of DYT1 gene expression by the Ets family of transcription factors.
J Neurochem
; 106(3): 1052-65, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18466338
4.
Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.
Mov Disord
; 26(11): 2140-1, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21674621
5.
Genetically induced retinal degeneration leads to changes in metabotropic glutamate receptor expression.
Neurosci Lett
; 393(1): 12-7, 2006 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-16213654
6.
Dopa-responsive dystonia: functional analysis of single nucleotide substitutions within the 5' untranslated GCH1 region.
PLoS One
; 8(10): e76975, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24124602
7.
Allelic Imbalance in TOR1A mRNA Expression in Manifesting and Non-Manifesting Carriers of the GAG-Deletion.
J Nucleic Acids
; 2012: 985260, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22988486
8.
TorsinA participates in endoplasmic reticulum-associated degradation.
Nat Commun
; 2: 393, 2011 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21750546