Angelo B. Cefalù

Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

Tycho R. Tromp, Merel L. Hartgers, G. Kees Hovingh et al. · The Lancet · 2022 · 207 citations · Full text

Life Sciences, Cardiology, Genetics +13

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy

Stefano Bertolini, Livia Pisciotta, Claudio Rabacchi et al. · Atherosclerosis · 2013 · 151 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A Novel Loss of Function Mutation of <i>PCSK9</i> Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol

Tommaso Fasano, Angelo B. Cefalù, Enza Di Leo et al. · Arteriosclerosis Thrombosis and Vascular Biology · 2006 · 126 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Decreased plasma soluble RAGE in patients with hypercholesterolemia: Effects of statins

Francesca Santilli, Loredana Bucciarelli, Davide Noto et al. · Free Radical Biology and Medicine · 2007 · 124 citations

Pharmacy, Pharmacology, Pharmacotherapy +11

Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia

Livia Pisciotta, Claudio Priore Oliva, Angelo B. Cefalù et al. · Atherosclerosis · 2005 · 104 citations · Full text

Medicine, Genetics, Molecular Genetics +14