Construction of a levodopa-response index from wearable sensors for quantifying Parkinson’s disease motor functions: Preliminary results
Objective: The goal of the study is to investigate whether wrist worn motion sensors are feasible tools to measure motor functions in Parkinson's disease (PD).…Automated Telehealth Diagnostics for Remote Parkinson Monitoring
Objective: To clinically assess and evaluate the impact of automated telehealth diagnostics on patients with Parkinson's disease (PD). Background: A single evaluation in a clinical…DYT2 screening in early-onset isolated dystonia in Italy
Objective: To assess mutations in HPCA (DYT2) in a cohort of familial and sporadic Italian patients with early-onset dystonia. Background: Mutations in Hippocalcin (HPCA) have…Intracranial calcifications in children and adults: Molecular and phenotypic characterization from a tertiary referral centre
Objective: To analyze a series of pediatric and adult patients with idiopathic intracranial calcification by a dedicated gene panel through targeted re-sequencing TruSeq Custom Amplicon.…Association of four new candidate genetic variants with Parkinson’s disease in Han Chinese
Objective: A recent large-scale meta-analysis of genome-wide association data in Europe has identified and replicated 28 loci for Parkinson's disease (PD) including 6 new risk…Reduced lifespan and climbing ability observed in the overexpressing human α-synuclein without heat shock protein CNB115 in Parkinson’s disease drosophila line
Objective: To investigate the neurotoxic role of overexpressing α-synuclein without Heat Shock Protein CNB115 (HSP115) in Parkinson's disease Drosophila line. Background: Parkinson's disease (PD) is…Genome-wide bioinformatic analysis of Parkinson’s disease: A focus on neuronal health maintenance
Objective: To scan the human genome for genes involved in neuronal health maintenance in Parkinson's disease (PD). Background: An enormous number of genes and pathways…Study on association between physical and genetics role in essential tremor – A case control study
Objective: To elucidate the relationships between physical and genetics parameters in essential tremor patients and controls. Tremor is an involuntary, rhythmic shaking of any part…Intracerebroventricular D-galactose injection provokes motor coordination impairment and cerebellar damage in Wistar rats
Objective: The present study was performed to investigate the effect of galactose (GAL) (at concentration in the brain, found in classical galactosemia) on motor coordination…Characterisation of the A30P mutation in alpha-synuclein gene in patient-derived cellular model of Parkinson’s disease
Objective: In this study, we aim to generate and characterise patient-derived midbrain dopaminergic neurons (mDANs) of the A30P Parkinson's disease (PD) familial case. Our goal…
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