Employment
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University College London Prof.2019 - Present
Education
Education history is unavailable.
Projects & Funding
Projects & funding information is unavailable.
Publications (28)
- Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period Save
- The Evolving Landscape of Fetal Therapy: Surgical Interventions and Emerging Biologics Save
- Bulbar function in children with spinal muscular atrophy type 1 treated with nusinersen Save
- Dystrophin isoform deficiency and upper‐limb and respiratory function in Duchenne muscular dystrophy Save
- A comprehensive framework for the interpretation of TTN missense variants Save
- Construct Validity and Internal Consistency of the Italian Version of the PedsQLTM 4.0 Generic Core Scale and PedsQLTM 3.0 Cerebral Palsy Module Save
- Fully personalized modelling of Duchenne Muscular Dystrophy ambulation Save
- Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy Save
- Relationship between growth and ambulation loss in Duchenne muscular dystrophy boys on steroids Save
- AAV gene therapy for Duchenne Muscular Dystrophy: lessons learned from a phase 3 trial Save