Lp(a): a genetic cause of clinical FH in children von Averna, Maurizio R, Cefalù, Angelo B

Volltext

APOC-III: a Gatekeeper in Controlling Triglyceride Metabolism von Giammanco, Antonina, Spina, Rossella, Cefalù, Angelo B., Averna, Maurizio

Volltext

Six genetic variants are associated with cardiovascular disease independently from canonical risk factors: a new method to refine GWAS results based on the UKBiobank phenotype data... von Noto, Davide, Gagliardo, Carola Maria, Spina, Rossella, Giammanco, Antonina, Ciaccio, Marcello, Cefalù, Angelo B., Averna, Maurizio

Volltext

Erdheim-Chester disease as complex clinical presentation and diagnosis: A case report and concise review of literature von Gagliardo, Carola M, Giammanco, Antonina, Vaglio, Augusto, Pegoraro, Francesco, Cefalù, Angelo B, Averna, Maurizio, Noto, Davide

Volltext

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy von Bertolini, Stefano, Pisciotta, Livia, Rabacchi, Claudio, Cefalù, Angelo B, Noto, Davide, Fasano, Tommaso, Signori, Alessio, Fresa, Raffaele, Averna, Maurizio, Calandra, Sebastiano

Volltext

DeepSRE: Identification of sterol responsive elements and nuclear transcription factors Y proximity in human DNA by Convolutional Neural Network analysis von Noto, Davide, Giammanco, Antonina, Spina, Rossella, Fayer, Francesca, Cefalù, Angelo B, Averna, Maurizio R

Volltext

Novel LDL-cholesterol lowering therapies: A step forward a personalized medicine von Averna, Maurizio, Cefalù, Angelo B.

Volltext

Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia von Rabacchi, Claudio, Pisciotta, Livia, Cefalù, Angelo B, Noto, Davide, Fresa, Raffaele, Tarugi, Patrizia, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano

Volltext

Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients von Noto, Davide, Spina, Rossella, Giammanco, Antonina, Barbagallo, Carlo M., Ganci, Antonina, Scrimali, Chiara, Brucato, Federica, Misiano, Gabriella, Ciaccio, Marcello, Caldarella, Rosalia, Cefalù, Angelo B., Averna, Maurizio

Volltext

eNOS activation by HDL is impaired in genetic CETP deficiency von Gomaraschi, Monica, Ossoli, Alice, Pozzi, Silvia, Nilsson, Peter, Cefalù, Angelo B, Averna, Maurizio, Kuivenhoven, Jan Albert, Hovingh, G Kees, Veglia, Fabrizio, Franceschini, Guido, Calabresi, Laura

Volltext

Prevalence of ANGPTL3 and APOB Gene Mutations in Subjects With Combined Hypolipidemia von Noto, Davide, Cefalù, Angelo B, Valenti, Vincenza, Fayer, Francesca, Pinotti, Elisa, Ditta, Mariangela, Spina, Rossella, Vigna, Giovanni, Yue, Pin, Kathiresan, Sekar, Tarugi, Patrizia, Averna, Maurizio R

Volltext

A Novel Loss of Function Mutation of PCSK9 Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol von Fasano, Tommaso, Cefalù, Angelo B, Di Leo, Enza, Noto, Davide, Pollaccia, Daniela, Bocchi, Letizia, Valenti, Vincenza, Bonardi, Renato, Guardamagna, Ornella, Averna, Maurizio, Tarugi, Patrizia

Volltext

Efficacy and safety of lomitapide in familial chylomicronaemia syndrome von Cefalù, Angelo B., D'Erasmo, Laura, Iannuzzo, Gabriella, Noto, Davide, Giammanco, Antonina, Montali, Anna, Zambon, Alberto, Forte, Francesco, Suppressa, Patrizia, Giannini, Stefano, Barbagallo, Carlo M., Ganci, Antonina, Nardi, Emilio, Vernuccio, Federica, Caldarella, Rosalia, Ciaccio, Marcello, Arca, Marcello, Averna, Maurizio

Volltext

A Novel APOB Mutation Identified by Exome Sequencing Cosegregates With Steatosis, Liver Cancer, and Hypocholesterolemia von Cefalù, Angelo B, Pirruccello, James P, Noto, Davide, Gabriel, Stacey, Valenti, Vincenza, Gupta, Namrata, Spina, Rossella, Tarugi, Patrizia, Kathiresan, Sekar, Averna, Maurizio R

Volltext

Anti-PCSK9 treatment: is ultra-low low-density lipoprotein cholesterol always good? von Noto, Davide, Giammanco, Antonina, Barbagallo, Carlo M, Cefalù, Angelo B, Averna, Maurizio R

Volltext

Lifestyle versus ezetimibe plus lifestyle in patients with biopsy-proven non-alcoholic steatohepatitis (LISTEN): A double-blind randomised placebo-controlled trial von Noto, Davide, Petta, Salvatore, Giammanco, Antonina, Spina, Rossella, Cabibbi, Daniela, Porcasi, Rossana, Caldarella, Rosalia, Ciaccio, Marcello, Muratore, Roberto, Cefalù, Angelo B., Craxi, Antonio, Averna, Maurizio

Volltext

Consensus document on diagnosis and management of familial hypercholesterolemia from the Italian Society for the Study of Atherosclerosis (SISA) von Tarugi, Patrizia, Bertolini, Stefano, Calandra, Sebastiano, Arca, Marcello, Angelico, Francesco, Casula, Manuela, Cefalù, Angelo B., D'Erasmo, Laura, Fortunato, Giuliana, Perrone-Filardi, Pasquale, Rubba, Paolo, Suppressa, Patrizia, Averna, Maurizio, Catapano, Alberico L.

Volltext

Effectiveness and safety of lomitapide in a patient with familial chylomicronemia syndrome von Cefalù, Angelo B., Giammanco, Antonina, Noto, Davide, Spina, Rossella, Cabibi, Daniela, Barbagallo, Carlo M., Averna, Maurizio

Volltext

Molecular diagnosis of hypobetalipoproteinemia: An ENID review von Tarugi, Patrizia, Averna, Maurizio, Di Leo, Enza, Cefalù, Angelo B, Noto, Davide, Magnolo, Lucia, Cattin, Luigi, Bertolini, Stefano, Calandra, Sebastiano

Volltext

PCSK9-D374Y mediated LDL-R degradation can be functionally inhibited by EGF-A and truncated EGF-A peptides: An in vitro study von Valenti, Vincenza, Noto, Davide, Giammanco, Antonina, Fayer, Francesca, Spina, Rossella, Altieri, Grazia I., Ingrassia, Valeria, Scrimali, Chiara, Barbagallo, Carlo M., Brucato, Federica, Misiano, Gabriella, Cefalù, Angelo B., Averna, Maurizio R.

Volltext