A. Cefalù

Publications183
h-index30
Citations2,838
Highly Influential Citations91
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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.
View on Wolters Kluwer
Molecular diagnosis of hypobetalipoproteinemia: an ENID review.
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Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an "FCS score".
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Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia.
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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.
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Effects of PCSK9 variants on common carotid artery intima media thickness and relation to ApoE alleles.
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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.
View on Springer
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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No association between Glu298Asp endothelial nitric oxide synthase polymorphism and Italian sporadic Alzheimer's disease
View on Elsevier
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.
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