Silvia Torelli
Great Ormond Street Hospital(GB)National Institute for Health Research(GB)Fondazione IRCCS Istituto Nazionale dei Tumori(IT)University College London(GB)
Publications by Year
Research Areas
Muscle Physiology and Disorders, RNA Research and Splicing, Ubiquitin and proteasome pathways, Health, Medicine and Society, Hermeneutics and Narrative Identity
Most-Cited Works
- → Dystrophin and mutations: one gene, several proteins, multiple phenotypes(2003)1,108 cited
- → Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study(2011)855 cited
- → Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan(2001)596 cited
- → Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan(2007)439 cited
- → Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling(2013)367 cited
- → Phenotypic spectrum associated with mutations in the fukutin‐related protein gene(2003)237 cited