Sfoglia per Autore
CEREBROTENDINOUS XANTHOMATOSIS: A SICILIAN FAMILY HARBOURING THE R362C MUTATION IN THE STEROL 27-HYDROXYLASE GENE
2006-01-01 VIVONA, N; BARRACO, G; VALENTI, V; CEFALU', AB; NOTO, D; POLLACCIA, D; FAYER, F; MINA', M; BARBAGALLO, CM; NOTARBARTOLO, A; BAGGIO, G; AVERNA, M
VARIABLE PHENOTYPIC ESPRESSION IN A LIPID ABSORPTION DISORDER DUE TO A MOLECULAR DEFECT IN THE SARA2 GENE
2006-01-01 VALENTI, V; CALVO, PL; CEFALU', AB; BALDI, M; POLLACCIA, D; BARBERA, C; VIVONA, N; NOTO, D; BARBAGALLO, CM; NOTARBARTOLO, A; AVERNA, MR
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.
Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent
2006-01-01 CEFALU, AB; BARRACO, G; NOTO, D; VALENTI, V; BARBAGALLO, CM; ELISIR, GD; CUNIBERTI, LA; WERBA, JP; LIBRA, M; COSTA, S; GIANGUZZA, F; NOTARBARTOLO, A; TRAVALI, S; AVERNA, M
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 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
CLINICAL AND MOLECULAR CHARACTERIZATION OF HYPERCHOLESTEROLEMIC SICILIAN FAMILIES AND DESCRIPTION OF 3 NOVEL MUTATIONS IN THE LDLR GENE
2007-01-01 VIVONA, N; DITTA, M; MINA, M; VALENTI, V; POLLACCIA, D; SPINA, R; BARBAGALLO, CM; NOTO, D; CEFALU, AB; NOTARBARTOLO, A; AVERNA, MR
INTERACTION OF THE INTRACELLULAR DOMAIN OF THE LOW DENSITY LIPOPROTEIN (LDL) RECPTOR WITH METALLOTHIONEIN2 (MT2).
2007-01-01 POLLACCIA, D; COSTA, S; NICOSIA, A; VALENTI, V; RAGUSA, M; DITTA, M; SPINA, R; VIVONA, N; GIANGUZZA, F; NOTO, D; CEFALU, AB; NOTARBARTOLO, A; AVERNA, MR
SHORT APOB TRUNCATIONS SHOW IMPAIRE CHYLOMICRON EXPORT AND ENTEROCYTE TRIGLYCERIDE ACCUMULATION. IN VIVO AND IN VITRO EVIDENCE ON A APOB 28.25 STABLE-TRANSFECTED ENTEROCYTE CELL LINE
2007-01-01 CANNIZZARO A; FAYER F; NOTO D; CEFALU AB; MONTALCINI T; VALENTI V; PITRONE M; MINA M; BARRACO G; NOTARBARTOLO A; PUJIA A; AVERNA MR
ΒETA ARRESTIN-2: A NEW “ACTOR” IN THE LDL-R ENDOCYTOSIS?
2007-01-01 VIVONA, N; DITTA, M; FAYER, F; MINA, M; VALENTI, V; POLLACCIA, D; SPINA, R; NOTO, D; CEFALU, AB; NOTARBARTOLO, A; AVERNA, MR
IL GENE PCSK9: UN NUOVO GENE IMPLICATO NEL CONTROLLO DELLA COLESTEROLEMIA
2007-01-01 CEFALU' AB; AMATO S; FERTITTA E; FAYER F; VALENTI V; GUELI MC; DI BLASI U; PAGANO M; NARDI I; CUSUMANO G; GULOTTA P; RAFFA A; DOVERI T; AVERNA MR
LE IPERCOLESTEROLEMIE PRIMITIVE
2007-01-01 NOTO N; AMATO S; FERTITTA E; FAYER F; VALENTI V; GUELI MC; DI BLASI U; PAGANO M; NARDI I; CUSUMANO G; GULOTTA P; RAFFA A; DOVERI T; AVERNA MR
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
The PCSK9 gene: a new gene controlling cholesterolemia
2007-01-01 Cefalu, AB; Amato, S; Fertitta, E; Fayer, F; Valenti, V; Gueli, MC; Di Blasi, U; Pagano, M; Nardi, IB; Cusumano, G; Gulotta, P; Raffa, A; Doveri, T; Averna, M
Obesity and the metabolic syndrome in a student cohort from Southern Italy
2009-01-01 Noto, D; Niglio, T; Cefalù, AB; Martino, E; Fayer, F; Mina, M; Valenti, V; Notarbartolo, A; Averna, M; Martino, F
Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia.
2009-01-01 Noto, D; Cefalù, AB; Cannizzaro, A; Minà, M; Fayer, F; Valenti, V; Barbagallo, CM; Tuttolomondo, A; Pinto, A; Sciumè, C; Licata, G; Averna, M
Metabolomic analysis of plasma from Alzheimer disease patients
2011-01-01 Greco, M; Noto, D; Tralongo, P; Monastero, R; Fayer, F; Cannizzaro, A; Altieri, I; Palesano, O; Spina, R; Valenti, V; Cefalù, AB; Averna, M
LIPIDOMICS OF FATTY LIVER IN NAFLD AND HCV INFECTION: LIVER SPHYNGOLIPIDS AND FATTY ACIDS
2011-01-01 Greco M; Noto D; Petta S; Minà M; Fayer F; Altieri I; Valenti V; Spina R; Craxì A; Averna M
FUNCTIONAL EFFECT OF NOVEL AMINO ACID VARIANTS OF APOLIPOPROTEIN B IN FAMILIAL HYPOBETALIPOPROTEINEMIA
2011-01-01 Magnolo, AL; Fancello, T; Pinotti, E; Valenti, V; Cefalù, AB; Averna, M; Tarugi, P
VASCULOPROTECTIVE FUNCTION OF HDL FROM CETP-DEFICIENT SUBJECTS
2011-01-01 Ossoli A; Pozzi S; Nilsson P; Jessup W; Kuivenhoven JA; Spina R; Valenti V; Cefalù AB; Averna M; Sirtori CR; Franceschini G; Calabresi L; Gomaraschi M
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