Area of research
Neurology · Physiology
Research interest
Research focused on Amyotrophic lateral sclerosis and Disease, with related work in C9orf72, Neuroscience, TARDBP. Notable publications include 'Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis', 'A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK', and 'Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias'.
Plasma proteomics in the prediagnostic phase of Parkinson’s disease: a multi-cohort study of 74,000 participants
Redefining ALS: Large-scale proteomic profiling reveals a prolonged pre-diagnostic phase with immune, muscular, metabolic, and brain involvement
Redefining ALS: Large-scale proteomic profiling reveals a prolonged pre-diagnostic phase with immune, muscular, metabolic, and brain involvement
Oropharyngeal Dysphagia in Acute Cervical Spinal Cord Injury: A Literature Review
Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis
Dose-dependent Neuroprotection of VEGF165 in Huntington's Disease Striatum