Twelve-week sensor assessment in Parkinson’s disease: Impact on quality of life
Objective: To evaluate the effects of using wearables over a long time period on Health-Related Quality of Life (HRQoL) in Parkinson's disease (PD) patients. Background:…A validation study of a smartphone-based finger tapping application for quantitative assessment of bradykinesia in Parkinson’s disease
Objective: We developed an application of smartphone tapper (SmpT) and sought to determine whether SmpT is applicable for clinical purpose by comparing SmpT parameters to…Survey of telemedicine use among MDS members
Objective: To evaluate telemedicine use amongst global members of the International Parkinson and Movement Disorders Society (MDS). Background: The current utilization of telemedicine by healthcare…TAF1 and its isoforms is underexpressed in different endogenous models of X-linked dystonia-parkinsonism
Objective: To study the expression of TAF1 and its isoforms in different endogenous models of X-linked dystonia-parkinsonism (XDP). Background: The putative gene causing XDP, the…Paediatric and adult-onset parkinsonism in Chediak-Higashi disease: A new family
Objective: To report two siblings affected by Chediak-Higashi syndrome (CHS) presenting with a pure neurological phenotype including paediatric and adult-onset parkinsonism. Background: CHS is a…Relationship between Alzheimer’s disease GWAS-linked top hits and risk of Parkinson’s disease with or without cognitive decline: A Chinese population-based study
Objective: We performed a case-control study in Chinese population to evaluate the association of AD genome-wide association study (GWAS) -linked top hits with both PD…Elucidating mechanisms of endogenous disease protection resulting in reduced penetrance in PINK1 deficiency
Objective: To elucidate mechanisms of reduced penetrance in PINK1 deficiency. Background: Loss of PINK1 causes recessive early-onset Parkinson's disease (PD); however, how PINK1 deficiency results…Do environmental factors influence the age at onset of Parkinson’s disease in LRRK2 G2019S carriers?
Objective: To evaluate the influence of environmental factors on the age at onset of Parkinson's disease in LRRK2 G2019S carriers. Background: Environmental and lifestyle factors…High throughput pooled-DNA sequencing of mendelian/susceptibility Parkinson’s disease genes in Spanish population
Objective: The primary outcome of our study was the identification of rare variants in 5 major Mendelian PD genes (SNCA, PARK2, PINK1, DJ1, LRRK2) and…Mutant WDR45 links NBIA to impaired autophagy, mitochondrial dysfunction and oxidative stress
Objective: To examine the impact of mutant WDR45 on autophagy,mitochondrial function,and oxidative stress capacity in patient's fibroblasts. Background: Mutations in the WD repeat domain 45…
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