Silvia Torelli

Great Ormond Street Hospital — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

35h-index7.5kcitations167works2.02yr avg
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Research Topics

Muscle Physiology and Disorders(107), RNA Research and Splicing(18), Ubiquitin and proteasome pathways(18), Health, Medicine and Society(18), Hermeneutics and Narrative Identity(18)

Publications167 total

Metabolic profiling of therapy-induced senescent cancer cells via TPEF, MALDI-MS, and RNA-sequencing
Scientific Reports·2025Open Access
MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping
Biomolecules·2025· 2 citedOpen Access
MRC Centre for Neuromuscular Diseases Biobank London: its role in the advancement of rare and neuromuscular diseases research
Neuromuscular Disorders·2025· 2 citedOpen Access
Golodirsen restores DMD transcript imbalance in Duchenne Muscular Dystrophy patient muscle cells
Skeletal Muscle·2024· 4 citedOpen Access
P29 DMD transcript imbalance and nuclear trafficking evaluation in muscle biopsies from baseline and golodirsen treated 4053-101 clinical trial patients
Neuromuscular Disorders·2023· 1 cited
MyoD-induced reprogramming of human fibroblasts and urinary stem cells in vitro: protocols and their applications
Frontiers in Physiology·2023· 9 citedOpen Access
A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical Monitoring
International Journal of Molecular Sciences·2023· 5 citedOpen Access
VP.58 Golodirsen induced DMD transcripts localization and dystrophin production in MyoD-converted fibroblasts from 4053-101 clinical trial patients
Neuromuscular Disorders·2022· 1 cited
Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy
Journal of Cachexia Sarcopenia and Muscle·2022· 56 citedOpen Access
Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases
Frontiers in Physiology·2021· 10 citedOpen Access
<i>TRAPPC11</i> ‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain
Neuropathology and Applied Neurobiology·2021· 27 citedOpen Access
DMD - TREATMENT
Neuromuscular Disorders·2021· 1 cited
DMD - BIOMARKERS
Neuromuscular Disorders·2021
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients
Journal of Neuropathology & Experimental Neurology·2021· 13 citedOpen Access
Duchenne muscular dystrophy patients lacking the dystrophin isoforms Dp140 and Dp71 and mouse models lacking Dp140 have a more severe motor phenotype
2021· 2 citedOpen Access
The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy
Acta Neuropathologica Communications·2021· 36 citedOpen Access
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
2020· 1 citedOpen Access
DMD – BIOMARKERS &amp; OUTCOME MEASURES
Neuromuscular Disorders·2020
DMD – BIOMARKERS &amp; OUTCOME MEASURES
Neuromuscular Disorders·2020
POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan
eLife·2020· 29 citedOpen Access
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Frequent Co-authors

Caroline A. Sewry(24), S. Brown(22), Francesco Muntoni(20), Francesco Muntoni(19), Martin Brockington(17), Lucy Feng(15), C. Jimenez‐Mallebrera(10), Sebahattin Çirak(8), Volker Straub(7), Jennifer E. Morgan(7), Fulvia Gremo(6), Virginia Arechavala‐Gomeza(5), Karen Anthony(5), Stephen Abbs(5), Dominic J. Wells(5), Thomas Voit(5), Emma Clement(5), Kevin P. Campbell(5), Yung‐Yao Lin(5), Alessandra Ferlini(4)