Patrizia Tarugi

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

Inherited Apolipoprotein A-V Deficiency in Severe Hypertriglyceridemia

Claudio Priore Oliva, Livia Pisciotta, Giovanni Li Volti et al. · Arteriosclerosis Thrombosis and Vascular Biology · 2005 · 188 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

PCSK9 Dominant Negative Mutant Results in Increased LDL Catabolic Rate and Familial Hypobetalipoproteinemia

Bertrand Cariou, Khadija Ouguerram, Yassine Zaïr et al. · Arteriosclerosis Thrombosis and Vascular Biology · 2009 · 138 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Characterization of Three Kindreds With Familial Combined Hypolipidemia Caused by Loss-of-Function Mutations of ANGPTL3

Livia Pisciotta, Elda Favari, Lucia Magnolo et al. · Circulation Cardiovascular Genetics · 2011 · 131 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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