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The clinical spectrum of CASQ1-related myopathy.
Semplicini C, Bertolin C, Bello L, Pantic B, Guidolin F, Vianello S, Catapano F, Colombo I, Moggio M, Gavassini BF, Cenacchi G, Papa V, Previtero M, Calore C, Sorarù G, Minervini G, Tosatto SCE, Stramare R, Pegoraro E. Semplicini C, et al. Among authors: catapano f. Neurology. 2018 Oct 23;91(17):e1629-e1641. doi: 10.1212/WNL.0000000000006387. Epub 2018 Sep 26. Neurology. 2018. PMID: 30258016 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: catapano f. 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.
A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α-dystroglycan.
Kim J, Lana B, Torelli S, Ryan D, Catapano F, Ala P, Luft C, Stevens E, Konstantinidis E, Louzada S, Fu B, Paredes-Redondo A, Chan AE, Yang F, Stemple DL, Liu P, Ketteler R, Selwood DL, Muntoni F, Lin YY. Kim J, et al. Among authors: catapano f. EMBO Rep. 2019 Nov 5;20(11):e47967. doi: 10.15252/embr.201947967. Epub 2019 Sep 30. EMBO Rep. 2019. PMID: 31566294 Free PMC article.
Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy.
Zhou H, Meng J, Malerba A, Catapano F, Sintusek P, Jarmin S, Feng L, Lu-Nguyen N, Sun L, Mariot V, Dumonceaux J, Morgan JE, Gissen P, Dickson G, Muntoni F. Zhou H, et al. Among authors: catapano f. J Cachexia Sarcopenia Muscle. 2020 Jun;11(3):768-782. doi: 10.1002/jcsm.12542. Epub 2020 Feb 7. J Cachexia Sarcopenia Muscle. 2020. PMID: 32031328 Free PMC article.
154 results