Area of research
Molecular Biology · Rheumatology
Research interest
Research focused on Rhabdomyolysis and Spinal muscular atrophy, with related work in Myoglobinuria, Placebo, Clinical endpoint. Notable publications include 'Ataluren treatment of patients with nonsense mutation dystrophinopathy', 'Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan', and 'Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled...'.
Transforming molecular neuropathology for adult brain tumor patients in the UK: Insights on implementation, adoption, and patient access (2021-2024)
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial
Making sense of missense variants in TTN-related congenital myopathies
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
Atypical periodic paralysis and myalgia
Interventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X-linked dilated cardiomyopathy
Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies
Rhabdomyolysis: a genetic perspective
Ataluren treatment of patients with nonsense mutation dystrophinopathy
Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis
Hereditary myopathy with early respiratory failure: occurrence in various populations
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies
Myopathic causes of exercise intolerance with rhabdomyolysis