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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: ingrassia v. 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
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: ingrassia v. 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
Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred.
Spina R, Noto D, Barbagallo CM, Monastero R, Ingrassia V, Valenti V, Baschi R, Pipitone A, Giammanco A, La Spada MP, Misiano G, Scrimali C, Cefalù AB, Averna MR. Spina R, et al. Among authors: ingrassia v. J Clin Lipidol. 2018 Jan-Feb;12(1):145-151. doi: 10.1016/j.jacl.2017.10.014. Epub 2017 Oct 27. J Clin Lipidol. 2018. PMID: 29153781
PCSK9-D374Y mediated LDL-R degradation can be functionally inhibited by EGF-A and truncated EGF-A peptides: An in vitro study.
Valenti V, Noto D, Giammanco A, Fayer F, Spina R, Altieri GI, Ingrassia V, Scrimali C, Barbagallo CM, Brucato F, Misiano G, Cefalù AB, Averna MR. Valenti V, et al. Among authors: ingrassia v. Atherosclerosis. 2020 Jan;292:209-214. doi: 10.1016/j.atherosclerosis.2019.09.009. Epub 2019 Sep 24. Atherosclerosis. 2020. PMID: 31564372
rs629301 CELSR2 polymorphism confers a ten-year equivalent risk of critical stenosis assessed by coronary angiography.
Noto D, Cefalù AB, Martinelli N, Giammanco A, Spina R, Barbagallo CM, Caruso M, Novo S, Sarullo F, Pernice V, Brucato F, Ingrassia V, Fayer F, Altieri GI, Scrimali C, Misiano G, Olivieri O, Girelli D, Averna MR. Noto D, et al. Among authors: ingrassia v. Nutr Metab Cardiovasc Dis. 2021 May 6;31(5):1542-1547. doi: 10.1016/j.numecd.2021.01.018. Epub 2021 Feb 3. Nutr Metab Cardiovasc Dis. 2021. PMID: 33810964