The Sequelae of Kernicterus
Objective: To highlight the long- term sequelae of Kernicterus Background: Kernicterus refers to the clinical features of chronic bilirubin encephalopathy which if not treated can…Nigrostriatal degeneration in DYT-PRKRA: new insights on a rare disorder
Objective: To describe a genetically proven DYT-PRKRA (DYT16) case with documented loss of presynaptic dopamine transporters. Background: DYT-PRKRA is an autosomal recessive disorder combining generalized…Post-stroke movement disorders: an analysis of 24 cases
Objective: To define prevalence of post-stroke movement disorders and correlate their clinical presentation with infarct localisation. Background: Stroke related movement disorders are rare, they can…Striatal dopaminergic dysregulation and dystonia-like movements induced by peripheral nerve crush in a transgene DYT1 mouse model
Objective: To study changes of the dopaminergic pathway of a transgene DYT1 dystonia mouse model after induction of a dystonic phenotype by peripheral nerve crush.…Contingent negative variation in patients with cervical dystonia related to sensory tricks
Objective: To evaluate changes in brain potentials related to sensory tricks in cervical dystonia (CD) activity compared to healthy volunteers using EEG Background: Sensory tricks…Is primary writing tremor a form fruste of dystonia?
Objective: To investigate whether primary writing tremor (PWT) and dystonia share a common pathophysiology and clarify if they are different phenomenological expressions of the same…Cervical dystonia – changes in resting state cerebellar connectivity induced by botulinum toxin
Objective: The aim of our study was to compare the connectivity between large-scale resting state networks and the cerebellum before and after treatment initiation. Background:…Disease Modeling of DYT1 Using Patient Induced Pluripotent Stem Cells
Objective: To create a resource of induced pluripotent stem cells (iPSCs) as models for exploring mechanisms of pathogenesis in DYT1 dystonia. Background: DYT1 an autosomal…Can cerebellar dysfunction help differentiate idiopathic from functional cervical dystonia?
Objective: This study investigated cerebellar function in patients with primary cervical dystonia (CD) and patients with presumed functional dystonia, with the intention to both clarify…Optimization of Region of Interest Analysis of the Superior Colliculus for Improved Activation Detection in Cervical Dystonia
Objective: Optimization of Region of Interest (ROI) Analysis of the Superior Colliculus for Improved Activation Detection in Cervical Dystonia Background: Cervical dystonia (CD) is a…
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