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Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases.
Falzarano MS, Rossi R, Grilli A, Fang M, Osman H, Sabatelli P, Antoniel M, Lu Z, Li W, Selvatici R, Al-Khalili C, Gualandi F, Bicciato S, Torelli S, Ferlini A. Falzarano MS, et al. Among authors: torelli s. Front Physiol. 2021 Oct 20;12:716471. doi: 10.3389/fphys.2021.716471. eCollection 2021. Front Physiol. 2021. PMID: 34744760 Free PMC article.
A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples.
Sardone V, Ellis M, Torelli S, Feng L, Chambers D, Eastwood D, Sewry C, Phadke R, Morgan JE, Muntoni F. Sardone V, et al. Among authors: torelli s. PLoS One. 2018 Mar 26;13(3):e0194540. doi: 10.1371/journal.pone.0194540. eCollection 2018. PLoS One. 2018. PMID: 29579078 Free PMC article.
The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy.
Scaglioni D, Catapano F, Ellis M, Torelli S, Chambers D, Feng L, Beck M, Sewry C, Monforte M, Harriman S, Koenig E, Malhotra J, Popplewell L, Guglieri M, Straub V, Mercuri E, Servais L, Phadke R, Morgan J, Muntoni F. Scaglioni D, et al. Among authors: torelli s. Acta Neuropathol Commun. 2021 Jan 6;9(1):7. doi: 10.1186/s40478-020-01106-1. Acta Neuropathol Commun. 2021. PMID: 33407808 Free PMC article.
Muscular dystrophies due to glycosylation defects.
Muntoni F, Torelli S, Brockington M. Muntoni F, et al. Among authors: torelli s. Neurotherapeutics. 2008 Oct;5(4):627-32. doi: 10.1016/j.nurt.2008.08.005. Neurotherapeutics. 2008. PMID: 19019316 Free PMC article. Review.
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients.
Torelli S, Scaglioni D, Sardone V, Ellis MJ, Domingos J, Jones A, Feng L, Chambers D, Eastwood DM, Leturcq F, Yaou RB, Urtizberea A, Sabouraud P, Barnerias C, Stojkovic T, Ricci E, Beuvin M, Bonne G, Sewry CA, Willis T, Kulshrestha R, Tasca G, Phadke R, Morgan JE, Muntoni F. Torelli S, et al. J Neuropathol Exp Neurol. 2021 Oct 26;80(10):955-965. doi: 10.1093/jnen/nlab088. J Neuropathol Exp Neurol. 2021. PMID: 34498054 Free PMC article.
120 results