Genotype-Phenotype Correlations in Niemann-Pick Disease Type C
Objective: To evaluate genetic and phenotypic variability and correlations in adult Niemann Pick disease type C (NPC) patients. Background: NPC is an autosomal recessive inherited…Reliability and Validity of the Greek Translation of the Scale for Assessment and Rating Ataxia in Ataxic Children
Objective: Translation and Cross-cultural adaptation of the Scale for Assessment and Rating Ataxia (SARA) in Greek ataxic pediatric population. Background: Ataxia in the pediatric population…“Doctor, I’m losing sleep over a hungry belly”
Objective: We report for the first time a case of Parkinson Disease (PD) that debuted as a Restless abdomen syndrome (RAS), with a positive response…Deep brain stimulation (DBS) of the ventral-intermediate thalamic nucleus (VIM) compared to the posterior subthalamic area (PSA) for upper limb action tremor: A single-center, randomized, double-blind, crossover trial (Oslo Tremorstim study)
Objective: To compare the efficacy of stimulation in VIM versus PSA on tremor suppression we conducted a randomized, double-blind crossover trial. Background: DBS of the…Outcomes of Gene therapy and Subsequent Deep Brain Stimulation for Parkinson’s Disease
Objective: The purpose of this study is to determine the outcomes of patients who received GAD gene therapy treatment and subsequently underwent DBS for Parkinson’s…Deep brain stimulation in Parkinson’s disease
Objective: Study the various clinical, electrophysiological and therapeutic parameters of operated patients. Evaluate the effectiveness of deep brain stimulation of STN in Parkinson's disease. Background:…Automatic Estimation of MDS-UPDRS Gait Scores from Videos with Multi-Rater Disagreements
Objective: Early diagnosis of Parkinson's disease (PD) and tracking its signs are crucial for developing treatment plans. The MDS-Unified Parkinson's Disease Rating Scale (MDS-UPDRS) defines…Metadata standards to support deployment of Digital Health Technologies in Clinical Trials in Parkinson’s Disease (PD)
Objective: A metadata framework for Digital Health Technologies (DHT) to support enhanced regulatory maturity, and to facilitate standardization and harmonization of data collection Background: DHTs…Shank range of motion as a measure of gait impairment in TUG test
Objective: The purpose of this study is to evaluate the efficacy of a gyroscope-based estimation of shank range of motion (RoM) as a measure to…Novel quantitative measures with standardised graphical tasks to objectively assess subtle changes in fine motor skill in diagnosing and monitoring of Parkinson’s disease
Objective: To integrate a handheld device with standardised graphical tasks into clinical assessment for automated objective motor symptoms rating with digital record keeping in Parkinson’s…
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