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…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…
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