A Novel Quantitative Assessment to Evaluate Functional Impairment in Parkinson’s Disease
Objective: To investigate if motion data collected from inertial measurement units (IMUs) mounted on implements used in activities of daily living (ADLs) can characterize the…Expanding the Clinical Spectrum of Fejerman Syndrome: Insights from Video EEG and Long-Term Follow-Up
Objective: We review the clinical spectrum of infants diagnosed with Fejerman syndrome, provide detailed phenomenology through video review and long-term outcomes Background: First described by…Clinical and Genetic spectrum of Developmental dyskinetic encephalopathy – Experience from a Tertiary care centre
Objective: To provide unique data on the clinical and genetic spectrum of developmental dyskinetic encephalopathies. Background: Developmental dyskinetic encephalopathy(DDE) is a recently described clinically and…Precision Gene Therapy Results in Clinical Benefit and Developmental Gains for Aromatic L-Amino Acid Decarboxylase Deficiency (AADCd): The UK Experience
Objective: To describe the UK cohort of children who have received regional brain-targeted gene therapy (GT) for AADCd Background: Classical AADCd is an ultra-rare genetic…Using Zebrafish Model to Investigate Complex Hereditary Spastic Paraplegia Caused by EPT1 Variants
Objective: To generate disease-representative zebrafish models using CRISPR-Cas9 technique.To characterise the zebrafish models by performing phenotypic characterization, neurobiological experiments, lipidomic and RNASeq studies.To test targeted…Development and Testing of a Smartphone Application to Capture Patient-Centered Outcome (PCO) Measures for Dystonia
Objective: Develop a smartphone application to collect patient-centered outcome (PCO) measures for dystonia. Background: PCO measures tailored for each major adult-onset focal dystonia subtype (Cervical…Caregiver and Patient perspectives on Parkinson’s Disease at tertiary, urban teaching hospital in Zambia, Africa: A Focus Group Study
Objective: Conduct focus groups to better understand the lived experience of Parkinson's Disease (PD) patients and caregivers in Zambia. Background: PD is a global neurological disease with…Monitoring Parkinson’s Disease in the Dental Chair
Objective: Our goal is to bridge the mechanistic knowledge gap on the Microbiota-Gut-Oral-Brain-Axis (MGOBA)’s role in Parkinson’s disease (PD) pathogenesis through a case-control, proof-of-concept, observational…Privacy and Personalisation: Predicting Parkinson’s Severity with Federated Learning
Objective: To improve privacy and personalisation for artificial intelligence (AI), this work compared federated learning (FL) to a conventional, centralised system for predicting Movement Disorder…The Impact of Socioeconomic Status on Functionality in people with Parkinson’s Disease
Objective: To investigate the impact of socioeconomic status (SES) on functionality in people with Parkinson's disease (PD) using the World Health Organization Disability Assessment Schedule…
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