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A Novel Loss of Function Mutation of PCSK9 Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol
TLDR
A novel inactivating mutation as well as some rare nonconservative amino acid substitutions of PCSK9 in white hypocholesterolemic individuals are discovered.
Molecular diagnosis of hypobetalipoproteinemia: an ENID review.
Enhanced Lipid Peroxidation and Platelet Activation as Potential Contributors to Increased Cardiovascular Risk in the Low‐HDL Phenotype
TLDR
A low HDL phenotype, both in CHD patients and in healthy subjects, is associated with increased lipid peroxidation and platelet activation, as determinants of atherothrombosis.
Prevalence of overweight and obesity in a rural southern Italy population and relationships with total and cardiovascular mortality: the Ventimiglia di Sicilia project
TLDR
The Ventimiglia di Sicilia Study highlights the great importance of overweight and obesity as a public health issue in a rural population and indicates that it is necessary to consider the impact of body weight and fat distribution on both total and CHD mortality.
Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia.
TLDR
Investigation of LMF1 gene in hypertriglyceridemic patients in whom mutations in LPL, APOC2, and APOA5 genes had been excluded led to the discovery of a novel homozygous nonsense mutation in one patient with severe hypertrigenidemia and recurrent episodes of pancreatitis.
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