Haploinsufficiency of KMT2B causes myoclonus-dystonia with impaired psychomotor ability
Objective: To investigate the genetic defect in patients with early-onset dystonia and myoclonus accompanying various neurological features. Background: Unlike other Mendelian disorders, dystonia genetics has…The Long-Term Safety of Deutetrabenazine for Chorea in Huntington Disease
Objective: To evaluate the safety and tolerability of deutetrabenazine in Huntington Disease (HD) over long term exposure. Background: In a randomized, double-blind, controlled trial (First-HD),…Effect of Pridopidine on Total Functional Capacity (TFC) in Huntington Disease (HD): Results of a Cohort Comparison of Open-HART and Historical Placebo Subjects
Objective: To measure functional decline by TFC change in HD patients treated with open-label pridopidine at 45 mg BID (Open-HART) for 36 months (mos), and…Myoclonus in adult onset Huntington’s disease
Objective: We present a case report of adult onset Huntington's disease (HD) with myoclonus as the main clinical feature. Background: Myoclonus is seldom reported as…Does cerebellar dysfunction contribute to tremor in Parkinson’s disease?
Objective: This study aims to investigate the potential role of cerebellar dysfunction in the pathogenesis of tremor in Parkinson’s disease (PD). Background: Rest tremor in…Alpha-synuclein enhances histone H3 lysine-9 dimethylation
Objective: To explore the nuclear function of alpha-synuclein (αS). Background: αS is a protein linked to Parkinson’s disease (PD) and related neurodegenerative disorders. It is…Mesencephalic astrocyte-derived neurotrophic factor reduces cell apoptosis via upregulating HSP70 in SHSY-5Y cells
Objective: The newest candidate growth factor for dopaminergic neurons is Mesencephalic Astrocyte-Derived Neurotrophic Factor (MANF). Signaling mechanisms by which MANF protects dopaminergic neurons from ER…Parkinson’s disease disrupts motor skill learning that requires improvement of a speed-accuracy trade-off
Objective: 1) To test whether PD reduces the ability to improve motor acuity (speed-accuracy trade-off performance) in goal-directed movements; 2) To examine the effect of…Premovement betaband event-related desynchronization related to simple lower limb movement and simulated gait initiation in Parkinson’s disease patients: MEG study
Objective: To compare premovement event related desynchronization (ERD) between simple lower limb movement and simulated gait initiation in Parkinson’s disease (PD) patients using Magnetoencephalography (MEG).…Increased appendicular lean body mass is associated with increased cerebral cholinergic innervation in Parkinson disease
Objective: The main aim of this study was to examine the effect of cholinergic nerve terminal integrity in the brain on measures of sarcopenia. Background:…
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