CEFALU', Angelo Baldassare
CEFALU', Angelo Baldassare
Promozione della Salute, Materno-Infantile, di Medicina Interna e Specialistica di Eccellenza “G. D’Alessandro”
A metallothionein family member interacts with the intracellular domain of the low density lipoprotein (LDL) receptor
2007-01-01 COSTA S; NICOSIA A; RAGUSA MA; POLLACCIA D; VALENTI V; CEFALU AB; GIANGUZZA F
A metallothionein family member interacts with the intracellular domain of the low density lipoprotein (ldl) receptor.
2007-01-01 COSTA S; NICOSIA A; RAGUSA MA; POLLACCIA D; VALENTI V; CEFALÙ AB; AVERNA MR; AND GIANGUZZA F
A NOVEL APOB MUTATION IDENTIFIED BY EXOME SEQUENCING COSEGREGATES WITH STEATOSIS, LIVER CANCER AND HYPOCHOLESTEROLEMIA
2013-01-01 Spina, R; Cefalù AB; Pirruccello, JP; Altieri, GI; Noto, D; Gabriel, S; Valenti, V; Gupta, N; Fayer, F; Palesano, O; Tarugi, P; Kathiresan, S; Averna, M
A Novel APOB Mutation Identified by Exome Sequencing Cosegregates With Steatosis, Liver Cancer, and Hypocholesterolemia.
2013-01-01 Cefalù, AB; Pirruccello, JP; Noto, D; Gabriel, S; Valenti, V; Gupta, N; Spina, R; Tarugi, P; Kathiresan, S; Averna, M
A NOVEL COMPOUND HETEROZYGOUS MUTATION OF THE LIPOPROTEIN LIPASE GENE IN A NEWBORN WITH CHYLOMICRONEMIA
2005-01-01 VALENTI, V; CEFALU, AB; NOTO, D; BARRACO, G; FAYER, F; VIVONA, N; MINA, M; ONORATO, K; POLLACCIA, D; BUGLINO, C; BARBAGALLO, CM; NOTARBARTOLO, A; AVERNA, MR
A NOVEL LOSS OF FUCTION MUTATION OF PCSK9 GENE IN CAUCASIANS WITH LOW PLASMA LDL-CHOLESTEROL
2007-01-01 FASANO T; CEFALU' AB; DI LEO E; NOTO D; POLLACCIA D; BOCCHI L; VALENTI V; GUARDAMAGNA O; AVERNA M; TARUGI P
A NOVEL LOSS OF FUNCTION MUTATION OF PCSK9 GENE
2006-01-01 FASANO T; BOCCHI L; DI LEO E; CEFALU' AB; NOTO D; VALENTI V; GUARDAMAGNA O; CALANDRA S; AVERNA MR; TARUGI P
A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol.
2007-01-01 FASANO, T; CEFALU, AB; DI LEO, E; NOTO, D; POLLACCIA, D; BOCCHI, L; VALENTI, V; BONARDI, R; GUARDAMAGNA, O; AVERNA, M; TARUGI, P
A novel mutation in the Lipase Maturaction Factor 1 (LMF-1)gene responsible for severe hypertriglyceridemia
2008-01-01 Spina, R; Arpi, ML; Vivona, N; Ditta, M; Fayer, F; Minà, M; Valenti, V; Pollaccia, D; Noto, D; Cefalù, AB; Notarbartolo, A; Vigneti, R; Averna, MR
A Novel Mutation of the DHCR7 Gene in a Sicilian Compound Heterozygote with Smith-Lemli-Opitz Syndrome
2005-01-01 ROMANO F; FIORE B; PEZZINO FM; LONGOMBARDO MT; CEFALU' AB; NOTO D; PUGLISI A; BROGNA A; MATTINA T; AVERNA M; TRAVALI S
A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily
2005-01-01 LUPO, I; CEFALU', AB; BONGIORNO, MR; DANIELE, O; VALENTI, V; NOTO, D; CAMARDA, R; SAVETTIERI, G; ARICO', M; AVERNA M
A novel nonsense mutation in the cept gene in italian Hyperalphalipoproteinemic subjects
2004-01-01 Buglino, C.; Martini, S.; Cefalu', A.; Noto, D.; Cortella, I.; Mina', M.; Valenti, V.; Barbagallo, C.; Fayer, F.; Notarbartolo, A.; Averna, M.
A NOVEL NONSENSE MUTATION IN THE CETP GENE IN ITALIAN HYPERALPHALIPOPROTEINEMIC SUBJECTS
2006-01-01 CEFALU'; AB; MARTINI S; NOTO D; CORTELLA I; VALENTI V; FAYER F; GUELI MC; BARBAGALLO CM; NOTARBARTOLO A; AVERNA M; Mina', M.; Buglino, C.M.
A novel putative interactor for the low density lipoprotein receptor cytoplasmic domain
2010-01-01 Costa, S; Nicosia, A; Ragusa, MA; Cefalù, AB; Pollaccia, D; Noto, D; Averna, M; Gianguzza, F
A subgroup analysis of the ODYSSEY APPRISE study: Safety and efficacy of alirocumab in the Italian cohort
2022-08-09 Cefalu', Angelo B; Garbelotto, Raffaella; Mombelli, Giuliana; Pirro, Matteo; Rubba, Paolo; Arca, Marcello; Borghi, Claudio; Bonomo, Katia; Gonnelli, Stefano; Massaroni, Katia; Tirone, Giampaolo; Averna, Maurizio
Accumulation of ApoE-containing triglyceride-rich lipoproteins in normolipidemic men with premature coronary artery disease
2000-01-01 Rizzo, M; Barbagallo, CM; Noto, D; Pernice, V; Polizzi, F; Cefalu’, AB; Notarbartolo, A; Averna, MR
Accumulation of apoE-enriched triglyceride-rich lipoproteins in patients with coronary artery disease
2006-01-01 Barbagallo, CM; Rizzo, M; Noto, D; Frasheri, A; Pernice, V; Rubino, A; Pieri, D; Pinto, V; Cefalu', AB; Giordano, C ;Notarbartolo, A; Averna, M
Accumulo di VLDL/IDL contenenti ApoE in maschi normolipemici con cardiopatia ischemica precoce
2000-01-01 Rizzo, M; Barbagallo, CM; Noto, D; Pernice, V; Cefalu’, AB; Polizzi, F; Notarbartolo, A; Averna, MR
Additive effect of mutations in LDLR and PCSK9 genes on the phenotyoe of familial hypercholesterolemia
2006-01-01 Pisciotta, L;Priore Oliva, C;Cefalù, AB;Noto, D;Bellocchio, A;Fresa, R;Cantafora, A; Patel, D;Averna , M;Tarurgi, P;Calandra, S;Bertolini, S
ADDITIVE EFFECT OF MUTATIONS IN LDLR AND PCSK9 GENES ON THE PHENOTYPE OF FAMILIAL HYPERCHOLESTEROLEMIA.
2005-01-01 PISCIOTTA, L; PRIORE OLIVA, C; CEFALU', AB; NOTO, D; BELLOCCHIO, A; FRESA, R; CANTAFORA, A; PATEL, D; AVERNA, MR; TARUGI, P; CALANDRA, S; BERTOLINI, S