BRUCATO, Federica
BRUCATO, Federica
Clinical and Biochemical Characterization of Fabry Disease Associated GLA Gene Variants: Data From a Large Cohort of 469 Thousand Genotyped Subjects of the UK Biobank Database
2025-11-01 Giammanco, A.; Gagliardo, C.M.; Scrimali, C.; Brucato, F.; Fasciana, T.M.G.; Averna, M.; Cefalu, A.B.; Noto, D.
Comparison of two polygenic risk score to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects: Polygenic hypocholesterolemias
2022-05-08 Cefalu A.B.; Spina R.; Noto D.; Rabacchi C.; Giammanco A.; Simone M.L.; Brucato F.; Scrimali C.; Gueli-Alletti M.G.; Barbagallo C.M.; Tarugi P.; Averna M
Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients
2022-03-16 Noto, Davide; Spina, Rossella; Giammanco, Antonina; Barbagallo, Carlo M; Ganci, Antonina; Scrimali, Chiara; Brucato, Federica; Misiano, Gabriella; Ciaccio, Marcello; Caldarella, Rosalia; Cefalù, Angelo Baldassare; Averna, Maurizio
Do genetically determined very high and very low LDL levels contribute to Lp(a) plasma concentration?
2024-08-28 Giammanco, A.; Noto, D.; Nardi, E.; Gagliardo, C.M.; Scrimali, C.; Brucato, F.; Spina, R.; Barbagallo, C.M.; Caldarella, R.; Ciaccio, M.; Cefalu', A.B.; Averna, M.
Echocardiographic Calcium Score of Aortic Valve Correlates with Coronary Artery Calcium Score in Heterozygous Familial Hypercholesterolemia
2025-03-20 Cefalu', A.B.; Nardi, E.; Giammanco, A.; Gagliardo, C.M.; Barbagallo, C.M.; La Grutta, L.; Toia, P.; Brucato, F.; Scrimali, C.; Fasciana, T.M.G.; Spina, R.; Lanza, M.; Vitale, F.; Noto, D.; Averna, M.
GENETIC MARKERS OF DEVELOPMENT AND PROGRESSION OF THE ATHEROSCLEROSIS. POSSIBLE ROLE OF VARIANTS THAT CHANGE THE INTERACTIONS WITH THE PROTEOGLYCANS AND LIFETIME EXPOSURE TO LIPID RISK FACTORS IN CARDIOVASCULAR HIGH-RISK PATIENTS
2021-05-05
IDENTIFICATION OF P.LEU167DEL APOE GENE MUTATION BY NEXT GENERATION SEQUENCING IN A LARGE HYPERCHOLESTEROLEMIC FAMILY
2019-01-01 Scrimali, C; Spina, R; Ingrassia, V; Cefalu, AB; Brucato, F; Misiano, G; Valenti, V; Noto, D; Altieri, GI; Fayer, F; Giammanco, A; Barbagallo, C; Averna, M
MOLECULAR CHARACTERIZATION OF PATIENTS WITH AND WITHOUT CORONARY ARTERY DISEASE WITH "EXTREME LDL-C PHENOTYPES"
2020-01-01 Brucato, F; Martinelli, N; Spina, R; Busti, F; Ingrassia, V; Scrimali, C; Altieri, GI; Noto, D; Misiano, G; Giammanco, A; Barbagallo, CM; Fayer, F; Cefalu, AB; Olivieri, O; Girelli, D; Averna, M
MUTATION IN CANDIDATE GENES ACCOUNT FOR A SMALL MINORITY OF HYPOBETALIPOPROTEINEMIAS AND NGS ANALYSIS SUPPORT POLYGENICITY IN MUTATION-NEGATIVE PATIENTS
2020-01-01 Giammanco, Antonina; Scrimali, C; Spina, R; Ingrassia, V; Brucato, F; Valenti, V; Cefalu, AB; Misiano, G; Altieri, GI; Noto, D; Barbagallo, CM; Ganci, A; Fayer, F; Averna, M
PCSK9-D374Y MEDIATED LDL-R DEGRADATION CAN BE FUNCTIONALLY INHIBITED BY EGF-A AND TRUNCATED EGF-A PEPTIDES. AN IN VITRO STUDY
2020-01-01 Scrimali, C; Spina, R; Ingrassia, V; Brucato, F; Altieri, GI; Noto, D; Valenti, V; Misiano, G; Giammanco, A; Fayer, F; Barbagallo, CM; Ganci, A; Cefalu, AB; Averna, M
PCSK9-D374Y mediated LDL-R degradation can be functionally inhibited by EGF-A and truncated EGF-A peptides: An in vitro study
2020-01-01 Valenti V; Noto D; Giammanco A; Fayer F; Spina R; Altieri GI; Ingrassia V; Scrimali C; Barbagallo CM; Brucato F; Misiano G; Cefalu AB; Averna M.
PREVALENCE OF STATIN INTOLERANCE IN A COHORT OF OUTPATIENTS IN A LIPID CLINIC
2019-01-01 Giammanco, A; Noto, D; Trevisin, M; Mattina, A; Cardella, A; Spina, R; Scrimali, C; Brucato, F; Ingrassia, V; Valenti, V; Misiano, G; Barbagallo, CM; Ganci, A; Cefalu, AB; Averna, M
rs629301 CELSR2 polymorphism confers a ten-year equivalent risk of critical stenosis assessed by coronary angiography
2021-05-01 Noto D.; Cefalu A.B.; Martinelli N.; Giammanco A.; Spina R.; Barbagallo C.M.; Caruso M.; Novo S.; Sarullo F.; Pernice V.; Brucato F.; Ingrassia V.; Fayer F.; Altieri G.I.; Scrimali C.; Misiano G.; Olivieri O.; Girelli D.; Averna M.