Whole exome sequencing in 62 families with early-onset movement disorders, cerebellar ataxia and hereditary spastic paraplegia from Kazakhstan, Tajikistan, and Azerbaijan
Objective: To report the results of whole-exome sequencing (WES) in 62 families with early-onset movement disorders, cerebellar ataxia, and hereditary spastic paraplegia (HSP) from Kazakhstan,…Multimodal assessment of nigrostriatal degeneration in de novo Parkinson’s disease
Objective: To study nigrostriatal changes with a multifactorial neuroimaging approach in order to further characterize early abnormalities in Parkinson’s Disease (PD). Background: Imaging techniques allow…Overnight stimulation: a new rescue strategy for deep brain stimulation-induced bradykinesia in dystonia?
Objective: We report the serendipity case of overnight stimulation for the management of stimulation-induced bradykinesia in two patients with generalized dystonia and clinically-effective pallidal deep…Levodopa–entacapone–carbidopa intestinal gel infusion for advanced Parkinson’s disease patients – data from a Romanian center
Objective: To report the experience with levodopa–entacapone–carbidopa intestinal gel infusion (LECIG) for the management of advanced Parkinson’s disease (PD) from a Romanian center. Background: LECIG…The role of cortical and subcortical structures in maintaining efficient network topology in Parkinson’s disease
Objective: To assess the relative importance of cortical and subcortical nodes and their connections in maintaining efficient structural connectome topology in Parkinson's disease (PD). Background:…Giant symptomatic capillary telangiectasia: uncommon cause of cerebellar ataxia
Objective: We present a case of a patient with adult-onset cerebellar ataxia and palatal tremor secondary to an uncommon vascular cause. Background: Capillary telangiectasias (CT)…Dried blood and plasma spots for the measurement of neurofilament light chain and inflammatory cytokines in patients with REM sleep behaviour disorder
Objective: The objective of this study was to investigate the relationship between plasma and dried blood/ plasma spot measurements of inflammatory markers (IFN-ɣ, IL-1β, IL-6,…Physician satisfaction from continuous telemonitoring in Parkinson’s disease
Objective: This work presents an evaluation of the satisfaction of physicians from using a continuous telemonitoring system for patients with Parkinson’s disease (PD). Background: The…Pilot study to investigate the use of in-clinic sensing to identify optimal stimulation parameters for deep brain stimulation therapy in Parkinson’s disease
Objective: Compare the use of in-clinic sensing functionality and standard of care monopolar review for identifying optimal settings of a deep brain stimulation (DBS) in…Parkinson`s disease in Pandemic Covid
Objective: SARS-CoV2 infection invades the brain through ACE2 receptors or the cytotoxic aggregation of proteins, including α-synuclein.Studies are uncertain on the risk of COVID and…
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