New presenilin-1 missense variant (p.Pro88Arg) characterized by initial progressive supranuclear palsy like phenotype.
Objective: To report a new presenilin-1 (PSEN 1) missense variant (p.Pro88Arg) characterized by initial Progressive Supranuclear Palsy (PSP) like phenotype. Background: Pathogenic variants in the PSEN1gene…DNA methylation of CDKN2B/CDKN2B-AS1 enhancer in Huntington’s disease and lung cancer
Objective: The aim of this study was to evaluate the DNA methylation of the CDKN2B/CDKN2B-AS1 enhancer with Huntington's disease and lung cancer. Background: Phenomenon of…Quantifying Tremor in the R6/2 Mouse model of Huntington’s Diease
Objective: To better characterize and precisely quantify the tremor widely observed in R6/2 mouse models of Huntington’s disease. Background: Tremor is a prominent feature of…Detection of silent periods of muscle activity related to negative myoclonia
Objective: The aim of the study was to determine if home-monitoring of surface electromyography (EMG) can be used to detect silent periods of muscle activity…Role of Selective Serotonin Reuptake Inhibitors in the Management of Motor Tics in Tourette’s Syndrome
Objective: Determine the usefulness of paroxetine in terms of motor and behavioral manifestations control in a patient with Tourrete Syndrome (TS) with intolerance to dopamine…Spinal Excitability and Plasticity in Hereditary Spastic Paraparesis: A Neurophysiological Study
Objective: To investigate spinal excitability and plasticity in patients with pure hereditary spastic paraparesis (HSP). Background: Pure HSP (SPG4) is a neurodegenerative disorder characterized by…Safety of MRI performed with leads-only or fully implanted DBS system
Objective: To support the safety of the Infinity DBS system with MR Conditional labeling. Background: An international, multicenter, observational, prospective, single-arm, post-market clinical follow-up study…Evaluating Patients’ Preferences for Parkinson’s Disease Treatments
Objective: To identify patients’ preferences for attributes of oral medications that are added to levodopa or levodopa/carbidopa (LD/CD) regimens to reduce OFF-time for Parkinson’s disease…Patient and Care Partner Perspectives on a Community-Based Outpatient Palliative Care Intervention for Parkinson’s Disease and Related Disorders
Objective: To understand patient and care partner perspectives on a community-based outpatient palliative care intervention for patients with Parkinson’s disease and related disorders (PDRD). Background:…A Milestone-based approach to monitoring disease progression in Parkinson’s disease
Objective: We used Parkinson Progression Marker Initiative (PPMI) data to assess the frequency of clinically meaningful disease milestones and examine baseline predictors of reaching these…
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