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Dystonia is a brain disorder causing involuntary, often painful movements. Apart from a role for dopamine deficiency in some forms, the cellular mechanisms underlying most dystonias are currently unknown. Here, we discover a role for deficient eIF2α signaling in DYT1 dystonia, a rare inherited generalized form, through a genome-wide RNAi screen. Subsequent experiments including patient-derived cells...
Parkinson disease (PD) is a chronic neurodegenerative disorder with a cumulative prevalence of greater than one per thousand. To date three independent genome‐wide association studies (GWAS) have investigated the genetic susceptibility to PD. These studies implicated several genes as PD risk loci with strong, but not genome‐wide significant, associations.
In this study, we combined data from two previously...
The purpose of this study was to derive patient preferences and utilities for outcomes associated with treatment of motor fluctuations, or ‘off-time’ for patients with Parkinson's disease (PD). Visual analog scale (VAS) and standard gamble (SG) approaches were used with 60 patients to determine patient preferences and utilities for 10 health state descriptions. Health state descriptions were categorized...
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