|
Dystonia 6, torsion (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.
|
28299530 |
2017 |
|
Dystonia 6, torsion (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
High variability of clinical symptoms in a Polish family with a novel THAP1 mutation.
|
25385508 |
2015 |
|
Dystonia 6, torsion (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification and functional analysis of novel THAP1 mutations.
|
21847143 |
2012 |
|
Dystonia 6, torsion (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.
|
22377579 |
2012 |
|
Dystonia 6, torsion (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.
|
21800139 |
2012 |
|
Dystonia 6, torsion (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel THAP1 gene mutations in patients with primary dystonia from southwest China.
|
21839475 |
2011 |
|
Dystonia 6, torsion (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype.
|
21110056 |
2011 |
|
Dystonia 6, torsion (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS.
|
21425341 |
2011 |
|
Dystonia 6, torsion (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China.
|
20825472 |
2011 |
|
Dystonia 6, torsion (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Homozygous THAP1 mutations as cause of early-onset generalized dystonia.
|
21425335 |
2011 |
|
Dystonia 6, torsion (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel THAP1 sequence variants in primary dystonia.
|
20083799 |
2010 |
|
Dystonia 6, torsion (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.
|
20211909 |
2010 |
|
Dystonia 6, torsion (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.
|
20687191 |
2010 |
|
Dystonia 6, torsion (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Adult-onset leg dystonia due to a missense mutation in THAP1.
|
20629133 |
2010 |
|
Dystonia 6, torsion (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Prevalence of THAP1 sequence variants in German patients with primary dystonia.
|
20669277 |
2010 |
|
Dystonia 6, torsion (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
|
19182804 |
2009 |
|
Dystonia 6, torsion (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.
|
19908320 |
2009 |
|
Dystonia 6, torsion (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation screening of the DYT6/THAP1 gene in Italy.
|
19908325 |
2009 |
|
Dystonia 6, torsion (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.
|
19345147 |
2009 |