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Page 1
Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia.
Cefalù AB, Noto D, Arpi ML, Yin F, Spina R, Hilden H, Barbagallo CM, Carroccio A, Tarugi P, Squatrito S, Vigneri R, Taskinen MR, Péterfy M, Averna MR. Cefalù AB, et al. Among authors: spina r. J Clin Endocrinol Metab. 2009 Nov;94(11):4584-90. doi: 10.1210/jc.2009-0594. Epub 2009 Oct 9. J Clin Endocrinol Metab. 2009. PMID: 19820022 Free PMC article.
Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia.
Noto D, Cefalù AB, Valenti V, Fayer F, Pinotti E, Ditta M, Spina R, Vigna G, Yue P, Kathiresan S, Tarugi P, Averna MR. Noto D, et al. Among authors: spina r. Arterioscler Thromb Vasc Biol. 2012 Mar;32(3):805-9. doi: 10.1161/ATVBAHA.111.238766. Epub 2012 Jan 12. Arterioscler Thromb Vasc Biol. 2012. PMID: 22247256
Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature.
Cefalù AB, Norata GD, Ghiglioni DG, Noto D, Uboldi P, Garlaschelli K, Baragetti A, Spina R, Valenti V, Pederiva C, Riva E, Terracciano L, Zoja A, Grigore L, Averna MR, Catapano AL. Cefalù AB, et al. Among authors: spina r. Atherosclerosis. 2015 Mar;239(1):209-17. doi: 10.1016/j.atherosclerosis.2015.01.014. Epub 2015 Jan 19. Atherosclerosis. 2015. PMID: 25618028 Review.
Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia.
Cefalù AB, Spina R, Noto D, Valenti V, Ingrassia V, Giammanco A, Panno MD, Ganci A, Barbagallo CM, Averna MR. Cefalù AB, et al. Among authors: spina r. Arterioscler Thromb Vasc Biol. 2015 Dec;35(12):2694-9. doi: 10.1161/ATVBAHA.115.306170. Epub 2015 Oct 1. Arterioscler Thromb Vasc Biol. 2015. PMID: 26427795
Myristic acid is associated to low plasma HDL cholesterol levels in a Mediterranean population and increases HDL catabolism by enhancing HDL particles trapping to cell surface proteoglycans in a liver hepatoma cell model.
Noto D, Fayer F, Cefalù AB, Altieri I, Palesano O, Spina R, Valenti V, Pitrone M, Pizzolanti G, Barbagallo CM, Giordano C, Averna MR. Noto D, et al. Among authors: spina r. Atherosclerosis. 2016 Mar;246:50-6. doi: 10.1016/j.atherosclerosis.2015.12.036. Epub 2015 Dec 28. Atherosclerosis. 2016. PMID: 26756970 Free article.
Baseline metabolic disturbances and the twenty-five years risk of incident cancer in a Mediterranean population.
Noto D, Cefalù AB, Barbagallo CM, Ganci A, Cavera G, Fayer F, Palesano O, Spina R, Valenti V, Altieri GI, Caldarella R, Giammanco A, Termini R, Burrascano M, Crupi G, Falletta A, Scafidi V, Sbordone D, La Seta F, Averna MR; Ventimiglia Heart Study Group. Noto D, et al. Among authors: spina r. Nutr Metab Cardiovasc Dis. 2016 Nov;26(11):1020-1025. doi: 10.1016/j.numecd.2016.07.003. Epub 2016 Jul 12. Nutr Metab Cardiovasc Dis. 2016. PMID: 27511705
Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.
Cefalù AB, Spina R, Noto D, Ingrassia V, Valenti V, Giammanco A, Fayer F, Misiano G, Cocorullo G, Scrimali C, Palesano O, Altieri GI, Ganci A, Barbagallo CM, Averna MR. Cefalù AB, et al. Among authors: spina r. J Clin Lipidol. 2017 Jan-Feb;11(1):272-281.e8. doi: 10.1016/j.jacl.2017.01.003. Epub 2017 Jan 11. J Clin Lipidol. 2017. PMID: 28391895
Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia.
Di Costanzo A, Di Leo E, Noto D, Cefalù AB, Minicocci I, Polito L, D'Erasmo L, Cantisani V, Spina R, Tarugi P, Averna M, Arca M. Di Costanzo A, et al. Among authors: spina r. J Clin Lipidol. 2017 Sep-Oct;11(5):1234-1242. doi: 10.1016/j.jacl.2017.06.013. Epub 2017 Jun 24. J Clin Lipidol. 2017. PMID: 28733173
281 results