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Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA).
Oskoui M, Day JW, Deconinck N, Mazzone ES, Nascimento A, Saito K, Vuillerot C, Baranello G, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Papp G, Gorni K, Kletzl H, Martin C, McIver T, Scalco RS, Staunton H, Yeung WY, Fontoura P, Mercuri E; SUNFISH Working Group. Oskoui M, et al. Among authors: scalco rs. J Neurol. 2023 May;270(5):2531-2546. doi: 10.1007/s00415-023-11560-1. Epub 2023 Feb 3. J Neurol. 2023. PMID: 36735057 Free PMC article. Clinical Trial.
Rhabdomyolysis: a genetic perspective.
Scalco RS, Gardiner AR, Pitceathly RD, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H, Quinlivan R. Scalco RS, et al. Orphanet J Rare Dis. 2015 May 2;10:51. doi: 10.1186/s13023-015-0264-3. Orphanet J Rare Dis. 2015. PMID: 25929793 Free PMC article. Review.
Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease).
Mahroo OA, Khan KN, Wright G, Ockrim Z, Scalco RS, Robson AG, Tufail A, Michaelides M, Quinlivan R, Webster AR. Mahroo OA, et al. Among authors: scalco rs. Ophthalmology. 2019 Feb;126(2):320-322. doi: 10.1016/j.ophtha.2018.09.013. Epub 2018 Oct 11. Ophthalmology. 2019. PMID: 30316539 Free PMC article. No abstract available.
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).
Pinós T, Andreu AL, Bruno C, Hadjigeorgiou GM, Haller RG, Laforêt P, Lucía A, Martín MA, Martinuzzi A, Navarro C, Oflazer P, Pouget J, Quinlivan R, Sacconi S, Scalco RS, Toscano A, Vissing J, Vorgerd M, Wakelin A, Martí R; EUROMAC Consortium. Pinós T, et al. Among authors: scalco rs. Orphanet J Rare Dis. 2020 Oct 15;15(1):187. doi: 10.1186/s13023-020-01455-z. Orphanet J Rare Dis. 2020. PMID: 33054807 Free PMC article.
53 results