Chiara Brusa
Great Ormond Street Hospital(GB)University College London(GB)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, Muscle Physiology and Disorders, Congenital Anomalies and Fetal Surgery, RNA modifications and cancer, Cardiomyopathy and Myosin Studies
Most-Cited Works
- → Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial(2021)116 cited
- → Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review(2021)53 cited
- → Technology outcome measures in neuromuscular disorders: A systematic review(2021)25 cited
- → Feeding difficulties in children and adolescents with spinal muscular atrophy type 2(2020)24 cited
- → Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping(2023)21 cited
- → The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy(2023)21 cited
- → New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges(2019)12 cited
- → Assessing Cognitive Function in Neuromuscular Diseases: A Pilot Study in a Sample of Children and Adolescents(2021)11 cited
- Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry.(2017)
- → Psychopharmacological Treatments for Mental Disorders in Patients with Neuromuscular Diseases: A Scoping Review(2022)11 cited