Francesco Muntoni
King's College London(GB)Great Ormond Street Hospital(GB)NIHR Imperial Biomedical Research Centre(GB)NIHR Great Ormond Street Hospital Biomedical Research CentreUniversity College London(GB)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, Neurogenetic and Muscular Disorders Research, RNA Research and Splicing, Genetic Neurodegenerative Diseases
Most-Cited Works
- → Improving genetic diagnosis in Mendelian disease with transcriptome sequencing(2017)790 cited
- → Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics(2017)651 cited
- → Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study(2009)637 cited
- → Muscular dystrophies(2019)528 cited
- → Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene(2000)486 cited
- → Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial