Loss‐of‐function mutations in NR4A2 cause dopa‐responsive dystonia-parkinsonism
Objective: To report two patients with early-onset dystonia-parkinsonism as a result of loss-of-function mutations in nuclear receptor subfamily 4 group A member 2 (NR4A2). Background:…Item Response Theory Analysis of the MDS-UPDRS Motor Examination: Tremor vs. Non-tremor Items
Objective: To investigate the dimensionality of MDS-UPRS Motor Examination (Part 3) using Item Response Theory (IRT). Background: In Parkinson's disease (PD), tremor severity behaves differently…Neuronal Inclusion Formation and Axonal Degeneration in Mutant TFG Transgenic Mice
Objective: To investigate the TFG pathology by analyzing transgenic mice expressing mutant TFG protein. Background: It has been demonstrated that missense variants in TFG gene…Pallidal deep brain stimulation in GNAO1 mutation dystonic storm: a description of two pediatric cases
Objective: Description of two pediatric cases with refractory dystonic storm secondary to GNAO1 (G- Protein Subunit Alpha O1) mutation treated with pallidal deep brain stimulation…Vertically-Stacked Single Segment Activation (VSSA) as a Programming Approach for Directional DBS in Globus Pallidus Internus (GPi) in Parkinson’s Disease (PD) Patients: First Clinical Case Series
Objective: Programming approach to optimize outcomes in PD patients implanted in GPi with directional DBS systems and to analyze volumes of tissue activation (VTAs) in…When and how to stop subthalamic deep brain stimulation in late-stage Parkinson’s disease
Objective: We sought to investigate the percentage of “poor stimulation responders” among late-stage Parkinson's disease (LSPD) patients for elaborating an algorithm to decide whether and…The clinical utility of programming method for multi-contact electrodes of deep brain stimulation in Parkinson’s disease
Objective: Consider the clinical utility of programming method for multi-contact electrodes in Parkinson’s disease (PD) from our experiences. Background: Some PD patients with deep brain…The Subthalamic Fasciculus and Connectivity Profiling of Stimulation-induced Dyskinesia following Pallidal DBS in Parkinson’s Disease
Objective: To identify anatomical regions related to stimulation-induced dyskinesia (SID) following pallidal deep brain stimulation (DBS) in Parkinson’s disease (PD) and to analyze structural and…Impedance Doesn’t Change with Levodopa Treatment
Objective: We aimed to evaluate the impedance of patients on their best ON/worst OFFs with levodopa, assuming that the level of dopamine at electrode’s vicinity…O-arm stereotactic imaging in deep brain stimulation surgery workflow: A utility and cost-effectiveness analysis
Objective: This study aimed to evaluate the safety and feasibility of using the Medtronic O-arm device for the acquisition of intraoperative stereotactic imaging, targeting, and…
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