SCRIMALI, Chiara
SCRIMALI, Chiara
Promozione della Salute, Materno-Infantile, di Medicina Interna e Specialistica di Eccellenza “G. D’Alessandro”
A novel therapeutic strategy to cure the Homozygous Familial Hypercholesterolemia with residual LDL receptor activity
2020-02-01
Automated untargeted stable isotope assisted lipidomics of liver cells on high glucose shows alteration of sphingolipid kinetics
2020-02-08 Noto D.; Di Gaudio F.; Altieri I.G.; Cefalu A.B.; Indelicato S.; Fayer F.; Spina R.; Scrimali C.; Giammanco A.; Mattina A.; Indelicato S.; Greco M.; Bongiorno D.; Averna M.
Comparison of two polygenic risk score to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects: Polygenic hypocholesterolemias
2022-01-01 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
DETECTION OF NEW GENES RESPONSIBLE OF FAMILIAL RECESSIVE HYPERCHOLESTEROLEMIA: PRELIMINARY DATA FROM AN EXOME SEQUENCING APPROACH
2014-01-01 Spina, R.; Cefalù, A.; Valenti, V.; Noto, D.; Ingrassia, V.; Scrimali, C.; Spada, M.; Misiano, G.; Altieri, G.; Fayer, F.; Barbagallo, C.; Palesano, O.; Licata, V.; 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
Genetic epidemiology of ARH in Sicily
2016-01-01 Spina, R.; Valenti, V.; Ingrassia, V.; La Spada, M.P.; Scrimali, C.; Misiano, G.; Noto, D.; Palesano, O.; Altieri, G.I.; Licata, V.; Fayer, F.; Barbagallo, C.M.; Cefalù, A.B.; Averna, M.
Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred
2018-01-01 Spina, R.; Noto, D.; Barbagallo, C.; Monastero, R.; Ingrassia, V.; Valenti, V.; Baschi, R.; Pipitone, A.; Giammanco, A.; La Spada, M.; Misiano, G.; Scrimali, C.; Cefalu', A.; Averna, M.
Genotypic and phenotypic characterization of patients with autosomal dominant hypercholesterolemia in sicily
2017-01-01 Giammanco, Antonina; Spina, Rossella; Ingrassia, Valeria; Valenti, Vincenza; Scrimali, Chiara; Misiano, Gabriella; Altieri, Grazia I.; Fayer, Francesca; Barbagallo, Carlo M.; Ganci, Antonina; Noto, Davide; Cefalu', Angelo B.; Averna, Maurizio
Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing
2017-01-01 Cefalu', A; Spina, R; Noto, D; Ingrassia, V.; Valenti, V; Giammanco, A; Fayer, F; Misiano, G; Cocorullo, G; Scrimali, C; Palesano, O; Altieri, G; Ganci, A; Barbagallo, C; Averna, M
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
NEXT GENERATION SEQUENCIN: A NEW METHODOLOGICAL APPROACH FOR THE MOLECULAR DIAGNOSIS OF GENETIC DYSLIPIDEMIAS
2014-01-01 Ingrassia, V.; Cefalù, A.; Valenti, V.; Noto, D.; Spina, R.; Scrimali, C.; Spada, M.; Misiano, G.; Altieri, G.; Fayer, F.; Barbagallo, C.; Palesano, O.; Licata, V.; 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
2021-01-01 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.
TGF-β/VEGF-A Genetic Variants Interplay in Genetic Susceptibility to Non-Melanocytic Skin Cancer
2022-07-13 Letizia Scola; Maria Rita Bongiorno; Giusi Irma Forte; Anna Aiello; Giulia Accardi; Chiara Scrimali; Rossella Spina; Domenico Lio; Giuseppina Candore