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UnknownA pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding.
Not available
S-EPMC8976427 | biostudies-literature
ProteomicsPeripheral nerve injury induces dystonia-like movements and dysregulation in the energy metabolism: A multi-omics descriptive study in Thap1+/− mice
DYT-THAP1 dystonia is a monogenetic form of dystonia, a movement disorder characterized by involuntary muscle contractions. The disease is caused by mutations in the THAP1 gene, although the exact mechanisms through which these mutations contribute to dystonia's pathophysiology remain elusive. The i...
ORGANISM(S): Mus musculus (Mouse) 
2025-01-03 | PXD055364 | Pride
Striatum Cerebellum Mouse Cortex Dyt-thap1 
UnknownReduced Expression of GABA A Receptor Alpha2 Subunit Is Associated With Disinhibition of DYT-THAP1 Dystonia Patient-Derived Striatal Medium Spiny Neurons.
Not available
S-EPMC8176025 | biostudies-literature
GenomicsPeripheral nerve injury induces dystonia-like movements and dysregulation in the energy metabolism: A multi-omics descriptive study in Thap1+/- mice
To elicit a dystonia-like phenotype in a genetically predisposed DYT-THAP1 mouse model (Thap1+/-) by performing a right sciatic nerve crush injury.
ORGANISM(S): Mus musculus 
2025-01-03 | GSE273219 | GEO
TranscriptomicsPeripheral nerve injury induces dystonia-like movements and dysregulation in the energy metabolism: A multi-omics descriptive study in Thap1+/− mice
To elicit a dystonia-like phenotype in a genetically predisposed DYT-THAP1 mouse model (Thap1+/-) by performing a right sciatic nerve crush injury. To identify novel pathophysiological pathways and possible biomarker, we performed a multi-omic analysis of three dystonia-relevant brain regions
ORGANISM(S): Mus musculus 
2025-01-03 | GSE273220 | GEO
UnknownGenetic Etiology Influences the Low-Frequency Components of Globus Pallidus Internus Electrophysiology in Dystonia.
Not available
S-EPMC11891763 | biostudies-literature
UnknownLong-Term Efficacy of Pallidal Deep Brain Stimulation in a Patient with DYT-THAP1 (DYT-6) Dystonia from India.
Not available
S-EPMC9175436 | biostudies-literature
UnknownPallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement.
Not available
S-EPMC6947218 | biostudies-literature
UnknownPallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome.
Not available
S-EPMC7820073 | biostudies-literature
GenomicsPeripheral nerve injury induces dystonia-like movements and dysregulation in the energy metabolism: A multi-omics descriptive study in Thap1+/- mice
Peripheral nerve injury induces dystonia-like movements and dysregulation in the energy metabolism: A multi-omics descriptive study in Thap1+/- mice
PRJNA1140620 | ENA
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