LRRK2 in Parkinson’s Disease: A per-domain rare-variant burden study
Objective: To study rare variant burden in different LRRK2 domains to investigate domain-based associations with Parkinson’s Disease (PD) and to identify functional variants in LRRK2.…RAB32 c.213C>G (p.Ser71Arg) explains Parkinson’s disease in two UK families: description of the clinical and biochemical features
Objective: To describe the clinical features, family structure of two families identified to have the recently described pathogenic variant RAB32 c.213C>G (p.Ser71Arg). Background: Genetic mutations…Parkinson’s Families Project: A UK-Wide Study of Early Onset and Familial Parkinson’s Disease
Objective: The Parkinson’s Families Project is a UK-wide study aimed at identifying genetic variation associated with familial and early-onset Parkinson's disease (PD). Background: Rare variants…Bidirectional Relationship Between Olfaction and Parkinson’s Disease
Objective: To establish a causal direction and genetic relationship between olfactory function and Parkinson’s disease (PD). Background: Degradation in olfactory function or hyposmia is a…Clinical Features of dj1 Gene Mutation Causing Parkinson’s Disease from Single Institution
Objective: Describe a detailed clinical and genetic evaluation of patients with Parkinson's disease secondary to DJ1 gene mutation Background: Inherited Parkinson's disease (PD) represents 5-10%…Oscillatory signatures of genetic Parkinson’s disease patients in subthalamic macroelectrode recordings
Objective: With electrophysiologically guided adaptive deep brain stimulation (aDBS) fast approaching clinical routine, oscillatory properties in all Parkinson’s disease (PD) patients must be characterised. Genetic…Clinical applications of cortical finely tuned gamma oscillations induced via subthalamic deep brain stimulation in Parkinson’s disease
Objective: To investigate the clinical relevance of entraining finely tuned gamma (FTG) oscillations via deep brain stimulation (DBS) in Parkinson’s disease (PD). Background: Prior studies…Association Between Glycated Hemoglobin (HbA1c) Levels And Motor Symptoms In Indian Subjects With Parkinson’s Disease: A Cross Sectional Observational Study
Objective: India is known for its diversity and genetic heterogeneity and our research seeks to fill the current gap in understanding how glycated hemoglobin (HbA1c)…Plasma biomarkers for rapid eye movement sleep behavior disorder in Parkinson’s disease: a prospective cohort study
Objective: We aimed to investigate the plasma biomarkers of rapid eye movement sleep behavior disorder (RBD) in a large PD cohort. Background: RBD is one of the most…Developing composite measures that track physical activity change in people with early-stage Parkinson’s disease using machine learning and wearable sensors
Objective: To describe an approach using machine learning (ML) to develop composite digital measures that capture changes in physical activity in people with early-stage Parkinson’s…
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