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Year Number of Results
2007 1
2008 5
2009 2
2011 2
2012 3
2013 2
2015 5
2016 3
2017 2
2018 4
2019 2
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2023 6
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43 results

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Page 1
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.
Gorgoglione D, Sabbatini D, Riguzzi P, Capece G, Pane M, Servidei S, Briganti M, Sancricca C, Bruschi F, Ardissone A, Masson R, Gallone A, Maggi L, Picillo E, Politano L, Petrosino A, Vianello S, Penzo M, Villa M, Sframeli M, Allegra C, Barp A, Di Bari A, Salmin F, Albamonte E, Colacicco G, Panicucci C, Traverso M, Palermo C, Lerario A, Velardo D, D'Angelo MG, Berardinelli A, Gardani A, Nicotra R, Parravicini S, Siciliano G, Ricci G, Torri F, Gadaleta G, Urbano G, Rolle E, Ricci F, D'Amico A, Catteruccia M, Pini A, Giannotta M, Battini R, Marinella G, Previtali SC, Zambon AA, Ferlini A, Fortunato F, Magri F, Mongini TE, Sansone VA, Bruno C, Messina S, Nigro V, Moroni I, Mercuri E, Bello L, Pegoraro E. Gorgoglione D, et al. Among authors: picillo e. Brain. 2025 May 13;148(5):1695-1706. doi: 10.1093/brain/awae358. Brain. 2025. PMID: 39499670
Patients on treatment with risdiplam in Italy: challenges in the interpretation of the real-world data.
Albamonte E, Lizio A, Coratti G, Maggi L, Pegoraro E, Pane M, Messina S, Masson R, D'Amico A, Bertini E, Pini A, Ricci F, Mongini T, Bruno C, Patanella K, Sframeli M, Dosi C, Bonanno S, Scarpini G, Brolatti N, Zanolini A, Bravetti C, Pera MC, Mercuri EM, Sansone VA; ItaSMAc. Albamonte E, et al. Neurol Sci. 2025 Aug;46(8):3839-3849. doi: 10.1007/s10072-025-08125-7. Epub 2025 Mar 28. Neurol Sci. 2025. PMID: 40153113
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.
Traverso M, Baratto S, Iacomino M, Di Duca M, Panicucci C, Casalini S, Grandis M, Falace A, Torella A, Picillo E, Onore ME, Politano L, Nigro V, Innes AM, Barresi R, Bruno C, Zara F, Fiorillo C, Scala M. Traverso M, et al. Among authors: picillo e. Eur J Hum Genet. 2024 Mar;32(3):342-349. doi: 10.1038/s41431-023-01516-4. Epub 2024 Jan 4. Eur J Hum Genet. 2024. PMID: 38177406 Free PMC article.
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ricci M, Cicala G, Capasso A, Coratti G, Fiori S, Cutrona C, D'Amico A, Sansone VA, Bruno C, Messina S, Mongini T, Coccia M, Siciliano G, Pegoraro E, Masson R, Filosto M, Comi GP, Corti S, Ronchi D, Maggi L, D'Angelo MG, Vacchiano V, Ticci C, Ruggiero L, Verriello L, Ricci FS, Berardinelli AL, Maioli MA, Garibaldi M, Nigro V, Previtali SC, Pera MC, Tizzano E, Pane M, Tiziano FD, Mercuri E; ITASMAC Working Group. Ricci M, et al. Ann Neurol. 2023 Dec;94(6):1126-1135. doi: 10.1002/ana.26788. Epub 2023 Sep 22. Ann Neurol. 2023. PMID: 37695206 Free article.
Genetic counseling in Pompe disease.
Taglia A, Picillo E, D'Ambrosio P, Cecio MR, Viggiano E, Politano L. Taglia A, et al. Among authors: picillo e. Acta Myol. 2011 Dec;30(3):179-81. Acta Myol. 2011. PMID: 22616199 Free PMC article.
Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy.
Spitali P, Hettne K, Tsonaka R, Sabir E, Seyer A, Hemerik JBA, Goeman JJ, Picillo E, Ergoli M, Politano L, Aartsma-Rus A. Spitali P, et al. Among authors: picillo e. J Cell Mol Med. 2018 Apr;22(4):2442-2448. doi: 10.1111/jcmm.13543. Epub 2018 Feb 14. J Cell Mol Med. 2018. PMID: 29441734 Free PMC article.
Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy.
Barp A, Bello L, Politano L, Melacini P, Calore C, Polo A, Vianello S, Sorarù G, Semplicini C, Pantic B, Taglia A, Picillo E, Magri F, Gorni K, Messina S, Vita GL, Vita G, Comi GP, Ermani M, Calvo V, Angelini C, Hoffman EP, Pegoraro E. Barp A, et al. Among authors: picillo e. PLoS One. 2015 Oct 29;10(10):e0141240. doi: 10.1371/journal.pone.0141240. eCollection 2015. PLoS One. 2015. PMID: 26513582 Free PMC article.
43 results