Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Retrospective chart review of inherited and idiopathic dystonia.
Alakkas A et al.
Frontiers in Genetics, 2025
Transcriptional regulatory network for neuron-glia interactions and its implication for DYT6 dystonia.
Yellajoshyula D
Dystonia (lausanne, Switzerland), 2023
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.
Lange LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Isolated dystonia: clinical and genetic updates.
Domingo A et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement.
Danielsson A et al.
Journal of Clinical Medicine, 2019
Highly reduced penetrance in a family with a THAP1 nonsense mutation: Role of THAP1 expression?
Dulovic-Mahlow M et al.
Parkinsonism & Related Disorders, 2019
Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia.
Dobričić VS et al.
Journal of Neurology, 2013
Review: genetics and neuropathology of primary pure dystonia.
Paudel R et al.
Neuropathology and Applied Neurobiology, 2012
THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.
Xiromerisiou G et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2012
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