Metabolic modulation of mitochondrial DNA release in cellular models of Parkin-associated Parkinson’s disease
Objective: Our objective in this study was to elucidate the mechanisms underlying the release of mtDNA in cellular models of Parkin-associated Parkinson’s disease and to…Voice- tremor in a patient with positive VPS 16 nonsense mutation: Expanding the phenotype
Objective: Reporting a case of voice-tremor in a patient with heterozygous non-sense variation in exon 16 of VPS 16 gene Background: Dystonia-30 is caused by…Nocturnal behavior of people with Parkinson’s disease
Objective: Compare the nocturnal energy expenditure (kcal) and activity behavior of people with PD using a real-time wearable sensor, and determine whether these outcomes differed…Initial clinical experience with levodopa-entacapone-carbidopa intestinal gel infusion (LECIG) for the management of advanced Parkinson´s disease in Croatia
Objective: To report preliminary results of a 12-week, prospective, multicenter, observational study of the efficacy and safety of LECIG for the treatment of advanced Parkinson´s…Building and evaluating a speech biomarker from 2-seconds sustained phonation to detect and monitor Parkinson’s disease
Objective: The aim of this work was to evaluate the feasibility of a speech-based algorithm geared towards frequent remote measuring of Parkinson’s disease severity with…TELO2 defect presenting with childhood-onset complex hyperkinetic MD
Objective: Expanding the TELO2-related phenotype by presenting a case with prominent hyperkinetic MD. Background: Telomere maintenance 2 (TELO2), Tel2 interacting protein 2 (TTI2), and Tel2…SYNCHRONIZE: Real-world retrospective safety analysis in patients treated with onabotulinumtoxinA for more than one therapeutic indication
Objective: Report real-world safety of onabotulinumtoxinA used concomitantly for multiple therapeutic indications. Background: Therapeutic onabotulinumtoxinA is approved in the US for 12 indications, some of…Discriminative properties and sensitivity to change of three cognitive assessment instruments in Huntington’s disease
Objective: We addressed and compared the discriminative properties of different cognitive instruments, and we determined the sensitivity to change of the proposed assessments in the…The effect of subthalamic deep brain stimulation on response inhibition and voluntary action control depend on connectivity of the volume of activated tissue with the prefrontal cortex
Objective: The effect of subthalamic deep brain stimulation on response inhibition and voluntary action control depend on connectivity of the volume of activated tissue with…Mosaic divergent repeat interruptions in X-linked dystonia-parkinsonism: stability over generations and time
Objective: This study aims to investigate the stability of Mosaic Divergent Repeat Interruptions affecting motif Length and Sequence (mDRILS) frequencies and repeat length across generations…
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