Associated Papers
Genetic Profile and Symptom Pattern Explain Variability of Deep Brain Stimulation Effect in Dystonia.
Ahmadipour M et al.
Annals of Clinical and Translational Neurology, 2025
40539305 (PubMed )
Supplement: ACN3-12-1660-s001.pdf
Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes.
Kaymak A et al.
Annals of Neurology, 2025
Loss-of-function mutations in the dystonia gene THAP1 impair proteasome function by inhibiting PSMB5 expression.
Ramage DE et al.
Nature Communications, 2025
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
The relevance of gene panels in movement disorders diagnosis: A lab perspective.
Reale C et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions.
Golanska E et al.
Plos One, 2015
Review: genetics and neuropathology of primary pure dystonia.
Paudel R et al.
Neuropathology and Applied Neurobiology, 2012
Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.
LeDoux MS et al.
Parkinsonism & Related Disorders, 2012
Identification and functional analysis of novel THAP1 mutations.
Lohmann K et al.
European Journal of Human Genetics : Ejhg, 2012
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