Silvia Torelli
0000-0002-8840-6835
Publication & Citation Trends
Most Cited Works
Publications
167 total
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling PDF
Cited by 370
OpenAlex
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan PDF
Cited by 239
OpenAlex
Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan PDF
Cited by 195
OpenAlex
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 PDF
Cited by 856
OpenAlex
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials PDF
Cited by 150
OpenAlex
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan PDF
Cited by 439
OpenAlex
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human
Cited by 165
OpenAlex
<i>Fukutin</i> gene mutations in steroid‐responsive limb girdle muscular dystrophy
Cited by 159
OpenAlex
Research Topics
Muscle Physiology and Disorders
(108)
RNA Research and Splicing
(18)
Ubiquitin and proteasome pathways
(18)
Health, Medicine and Society
(18)
Hermeneutics and Narrative Identity
(18)
Frequent Co-Authors
Affiliations
University of Rome Tor Vergata
Centre National de la Recherche Scientifique
Guy's Hospital
Nationwide Children's Hospital
Inserm