Publication & Citation Trends
Publications
0 total
The generation and validation of a de novo-designed titin binder for use in fluorescence microscopy
Cited by 0
Semantic Scholar
Congenital myasthenic syndrome: is it time for a name change to genetic myasthenic syndrome?
Cited by 0
Semantic Scholar
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
Cited by 4
Semantic Scholar
Integrated single‐cell functional‐proteomic profiling reveals a shift in myofibre specificity in human nemaline myopathy: A proof‐of‐principle study OA
Cited by 1
Semantic Scholar
Epg5 Links Proteotoxic Stress Due to Defective Autophagic Clearance and Epileptogenesis in Drosophila and Vici Syndrome Patients
Cited by 0
Semantic Scholar
Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy
Cited by 0
Semantic Scholar
Letter Concerning Biallelic Variants in EPG5 Gene Are Associated with Parkinson's Disease
Cited by 0
Semantic Scholar
Prevalence and Geographical Distribution of Patients With Congenital Myasthenic Syndromes in the United Kingdom
Cited by 0
Semantic Scholar
Research Topics
Muscle Physiology and Disorders
(124)
Cardiomyopathy and Myosin Studies
(109)
Ion channel regulation and function
(77)
Neurogenetic and Muscular Disorders Research
(69)
Genetic Neurodegenerative Diseases
(55)
Affiliations
Institute of Physics
University of London
National Health Service
Boston Children's Hospital
Belfast Health and Social Care Trust