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2003 1
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2006 1
2009 1
2010 1
2016 1
2020 1
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Page 1
Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing.
Magrì D, Mastromarino V, Gallo G, Zachara E, Re F, Agostoni P, Giordano D, Rubattu S, Forte M, Cotugno M, Torrisi MR, Petrucci S, Germani A, Savio C, Maruotti A, Volpe M, Autore C, Piane M, Musumeci B. Magrì D, et al. Among authors: savio c. J Clin Med. 2020 May 28;9(6):1636. doi: 10.3390/jcm9061636. J Clin Med. 2020. PMID: 32481709 Free PMC article.
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
Rubattu S, Bozzao C, Pennacchini E, Pagannone E, Musumeci BM, Piane M, Germani A, Savio C, Francia P, Volpe M, Autore C, Chessa L. Rubattu S, et al. Among authors: savio c. Int J Mol Sci. 2016 Jul 30;17(8):1239. doi: 10.3390/ijms17081239. Int J Mol Sci. 2016. PMID: 27483260 Free PMC article.
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.
Magliozzi M, Piane M, Torrente I, Sinibaldi L, Rizzo G, Savio C, Lulli P, De Luca A, Dallapiccola B, Chessa L. Magliozzi M, et al. Among authors: savio c. Dis Markers. 2006;22(4):257-64. doi: 10.1155/2006/740493. Dis Markers. 2006. PMID: 17124347 Free PMC article.
A structural characterization of in situ chromatin on cell lines isolated from patients affected by ataxia telangiectasia.
Grattarola M, Spaggiari S, Chessa L, Savio C, Nicolini C, Vergani L. Grattarola M, et al. Among authors: savio c. Int J Biol Macromol. 2003 Nov;33(1-3):23-9. doi: 10.1016/s0141-8130(03)00060-6. Int J Biol Macromol. 2003. PMID: 14599580
Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.
Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B. Chessa L, et al. Among authors: savio c. Ann Hum Genet. 2009 Sep;73(Pt 5):532-9. doi: 10.1111/j.1469-1809.2009.00535.x. Ann Hum Genet. 2009. PMID: 19691550 Free article.
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.
Delia D, Piane M, Buscemi G, Savio C, Palmeri S, Lulli P, Carlessi L, Fontanella E, Chessa L. Delia D, et al. Among authors: savio c. Hum Mol Genet. 2004 Sep 15;13(18):2155-63. doi: 10.1093/hmg/ddh221. Epub 2004 Jul 21. Hum Mol Genet. 2004. PMID: 15269180
Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia.
Silvestri G, Masciullo M, Piane M, Savio C, Modoni A, Santoro M, Chessa L. Silvestri G, et al. Among authors: savio c. J Neurol. 2010 Oct;257(10):1738-40. doi: 10.1007/s00415-010-5583-7. Epub 2010 May 18. J Neurol. 2010. PMID: 20480175 No abstract available.