Digital Mobility Outcomes for Modelling Self-Perceived Gait Security in People with Parkinsonian Disorders
Objective: To identify objective digital mobility outcomes (DMOs) that can explain self-perceived gait security in people with Parkinsonian disorders (PwPD). Background: Gait impairments are among…Assessing The Role Of Afg3l2 Pathogenic Variants In Parkinson’s Disease
Objective: The aim of this study is to investigate the potential link between AFG3L2 rare pathogenic/likely pathogenic variants with Parkinson’s disease (PD). Background: AFG3L2 is…Multidimensional Motor Dysfunction in Early Parkinsons Disease With Turning Velocity as a Sensitive Staging Biomarker
Objective: To quantify multidimensional motor dysfunction in early-stage Parkinson's disease (H&Y 1-2) and identify the most sensitive parameters for staging identification, with a focus on…Monogenic Parkinson’s Disease Australia (MonoPDAus) Project Update
Objective: 1. To improve genetic testing access and diagnostic rates of monogenic Parkinson’s Disease (PD) in Australia.2. To establish genotype-phenotype correlation to inform personalised treatment…Uncovering Sleep Neural Signatures of Parkinson’s Disease and REM Sleep Behavior Disorder from Polysomnography through Interpretable Deep Learning
Objective: To uncover sleep physiological signatures that distinguish Parkinson's disease (PD) and REM sleep behavior disorder (RBD) by reverse-engineering what a deep learning classifier learns…Exposure-Response Analysis of Glovadalen in the ATLANTIS Phase II Study: Trial Simulation Explains Dose-Response for OFF Time in Parkinson’s
Objective: This analysis characterized the exposure-response (E-R) relationship of glovadalen (UCB0022) in the ATLANTIS Phase-IIa proof-of-concept study, to understand the apparent lack of dose-response for…Kufor-Rakeb Syndrome With a Novel Splice-Site Variant in the ATP13A2 Gene
Objective: To report a patient with juvenile-onset parkinsonism harboring a novel homozygous splice-site variant in ATP13A2. Background: Kufor-Rakeb syndrome (KRS) is an ultra-rare form of…When Presynaptic Stimulation is Not Enough: Severe Biphasic Dyskinesia on LECIG Reversed by Postsynaptic Apomorphine Rescue
Objective: To report an exceptional case of advanced Parkinson’s disease (PD) where levodopa/carbidopa/entacapone intestinal gel (LECIG) failed to provide adequate motor control, ultimately requiring a…A Comprehensive Analysis of Advanced Deep Brain Stimulation Programming Strategies
Objective: To evaluate clinical rationale and outcomes of advanced deep brain stimulation (DBS) programming for movement disorders. Background: DBS is an effective treatment for medication…Analyzing the classification of 767 GBA1 variants to guide GBA1 PD risk prediction
Objective: To assess the consistency of GBA1 variant classification across large Parkinson’s disease (PD) and Gaucher disease (GD) cohorts and determine how variant-specific biochemical data…
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