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Page 1
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: scrimali c. 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: scrimali c. 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
Comparison of two polygenic risk scores to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects.
Cefalù AB, Spina R, Noto D, Rabacchi C, Giammanco A, Simone ML, Brucato F, Scrimali C, Gueli-Alletti MG, Barbagallo CM, Tarugi P, Averna MR. Cefalù AB, et al. Among authors: scrimali c. J Clin Lipidol. 2022 Jul-Aug;16(4):530-537. doi: 10.1016/j.jacl.2022.04.009. Epub 2022 May 8. J Clin Lipidol. 2022. PMID: 35589500
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: scrimali c. 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: scrimali c. 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
Automated untargeted stable isotope assisted lipidomics of liver cells on high glucose shows alteration of sphingolipid kinetics.
Noto D, Di Gaudio F, Altieri IG, Cefalù AB, Indelicato S, Fayer F, Spina R, Scrimali C, Giammanco A, Mattina A, Indelicato S, Greco M, Bongiorno D, Averna M. Noto D, et al. Among authors: scrimali c. Biochim Biophys Acta Mol Cell Biol Lipids. 2020 Jun;1865(6):158656. doi: 10.1016/j.bbalip.2020.158656. Epub 2020 Feb 8. Biochim Biophys Acta Mol Cell Biol Lipids. 2020. PMID: 32045699
Do genetically determined very high and very low LDL levels contribute to Lp(a) plasma concentration?
Giammanco A, Noto D, Nardi E, Gagliardo CM, Scrimali C, Brucato F, Spina R, Barbagallo CM, Caldarella R, Ciaccio M, Cefalù AB, Averna M. Giammanco A, et al. Among authors: scrimali c. Nutr Metab Cardiovasc Dis. 2024 Aug 28:S0939-4753(24)00326-0. doi: 10.1016/j.numecd.2024.08.016. Online ahead of print. Nutr Metab Cardiovasc Dis. 2024. PMID: 39271391 Free article.