Associated Papers
Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model.
Baumann H et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.
Lange LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Reduced Expression of GABA A Receptor Alpha2 Subunit Is Associated With Disinhibition of DYT-THAP1 Dystonia Patient-Derived Striatal Medium Spiny Neurons.
Staege S et al.
Frontiers in Cell and Developmental Biology, 2021
Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers.
Baumann H et al.
Stem Cell Research, 2018
Mutational screening of THAP1 in a German population with primary dystonia.
Kaffe M et al.
Parkinsonism & Related Disorders, 2012
DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.
Blanchard A et al.
Human Mutation, 2011
Parkinsonism and dystonia associated with adalimumab.
Ha AD et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2011
Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China.
Cheng FB et al.
European Journal of Neurology, 2011
Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families.
Zittel S et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2010
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).
Kaiser FJ et al.
Annals of Neurology, 2010
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.
Djarmati A et al.
The Lancet. Neurology, 2009
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