Potential advantages of high resolution lead designs for deep brain stimulation
Objective: The aim of this study is to summarize potential stimulation and sensing advantages of high resolution DBS leads. Background: Deep brain stimulation (DBS) is…Monitoring dyskinesia severity using wearable sensor data
Objective: Herein we present the results of ongoing work focused on estimating limb-specific dyskinesia in patients with PD using wearable sensor data collected in the…Spatial accuracy and reliability of the Microsoft Kinect V2 in the assessment of joint movement in comparison to marker-based motion capture (Vicon)
Objective: Evaluation of Microsoft Kinect V2 against standard motion capture. Background: Augmentation of clinical Motor testing with instrumental assessment has been proposed to increase objectivity.…Exome sequencing in dementia with Lewy bodies
Objective: To perform a comprehensive analysis of genes previously implicated in dementia with Lewy bodies (DLB) by exome sequencing of a pathologically confirmed DLB cohort.…A pilot study of whole exome sequencing in progressive supranuclear palsy
Objective: To identify genetic variants associated with Progressive Supranuclear Palsy (PSP) using whole exome sequencing. Background: PSP is a rare tauopathy but is the second…Lysosomal alterations in peripheral blood mononuclear cells of Parkinson’s disease patients
Objective: To identify potential systemic alterations in CMA and macroautophagy markers, and GBA levels/activity in Peripheral Blood Mononuclear Cells (PBMCs) isolated from PD patients with…Clinical presentations of 2 Parkin / lysosomal storage disorder heterozygotes with Parkinson’s disease
Objective: (1) To identify the genetic basis of young-onset or familial Parkinson's disease in South Africa; (2) to clinically characterize the phenotypes observed. Background: Mutations…A web resource on levodopa-induced dyskinesia (LID) genetics
Objective: Establish a web resource summarizing literature-based genetic information on levodopa-induced dyskinesia in an easily accessible and consistent way. Background: Levodopa induced dyskinesia (LID) is…Genetic variation near the SNCA gene associates with Parkinson’s disease motor phenotype and progression
Objective: To examine the extent to which single nucleotide polymorphisms (SNPs) are associated with motor phenotype and progression in Parkinson's disease (PD). Background: Tremor-dominant (TD)…Bristle hair may point to hereditary spastic paraplegia type SPG35/ FAHN
Objective: Finding new phenotypic features or biomarkers in hereditary spastic paraplegia type SPG35 / Fatty Acid Hydroxylase-associated Neurodegeneration (FAHN) to help clinicians to identify this…
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