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
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.
Erogullari A et al.
Biochimica Et Biophysica Acta, 2014
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