A5058441666- Genetic Neurodegenerative Diseases
- Botulinum Toxin and Related Neurological Disorders
- Hereditary Neurological Disorders
- Muscle activation and electromyography studies
- Ion channel regulation and function
- Prosthetics and Rehabilitation Robotics
- Cerebral Palsy and Movement Disorders
- Respiratory Support and Mechanisms
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Tracheal and airway disorders
- Glycogen Storage Diseases and Myoclonus
- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Parkinson's Disease Mechanisms and Treatments
- Muscle Physiology and Disorders
- Biochemical and Molecular Research
University of Sheffield
2023-2025
Sheffield Teaching Hospitals NHS Foundation Trust
2025
University College London
2019-2024
National Hospital for Neurology and Neurosurgery
2019-2024
University College London Hospitals NHS Foundation Trust
2019-2023
The Ohio State University Wexner Medical Center
2023
Nationwide Children's Hospital
2023
University College Hospital
2023
Arginine:glycine amidinotransferase (AGAT) deficiency is an ultrarare disorder of creatine metabolism, presenting with developmental delay, characteristic biochemical findings and muscle weakness. Most known cases have been identified treated in early childhood. We describe a 27-year-old woman learning difficulties significant myopathy who was diagnosed through genetic investigation adulthood. Treatment (10–15 g/day) led to rapid improvement strength. A literature review the few reported...
To explore healthcare professionals' experiences managing cough and secretion problems in Amyotrophic Lateral Sclerosis (ALS). A qualitative study was completed with 23 individuals participating four focus groups. Data analyzed using reflexive thematic analysis COM-B theoretical domains framework (TDF) behavior change frameworks. This found that roles, responsibilities, expectations needed to be clearly defined building relationships important support care delivery. Barriers identified...
Significant inconsistencies in respiratory care provision for Duchenne muscular dystrophy (DMD) are reported across different specialist neuromuscular centres the UK. The absence of robust clinical evidence and expert consensus is a barrier to implementation recommendations public healthcare systems as need increase awareness key aspects those living with DMD. Here, we provide evidenced-based and/or consensus-based best practice children adults DMD UK, both part routine an emergency....
Abstract Objectives Defining clinically relevant outcome measures for myotonic dystrophy type 1 (DM1) that can be valid and feasible different phenotypes has proven problematic. The Outcome Measures Myotonic Dystrophy (OMMYD) group proposed a battery of functional outcomes: 6‐minute walk test, 30 seconds sit stand timed 10 m walk/run nine‐hole peg test. This, however, required large‐scale investigation, Methods A cohort 213 patients enrolled in the natural history study, PhenoDM1, was...
People with Charcot-Marie-Tooth Disease (CMT) frequently report problems balance, which lead to an increased risk of falls. Evidence is emerging training interventions improve balance for people CMT, but date all have relied on clinic-based treatment and equipment. This proof-of-concept study explored whether a multi-modal program proprioceptive rehabilitation strength can be delivered at home, performance in CMT Type 1A.