• 3402 Citations
  • 29 h-Index
19952019

Research output per year

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Research Output

  • 3402 Citations
  • 29 h-Index
  • 131 Article
  • 73 Other
  • 25 Book/Film/Article review
  • 2 Paper
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Article
2019
1 Citation (Scopus)
2018
3 Citations (Scopus)

An unexplained congenital disorder of glycosylation-II in a child with neurohepatic involvement, hypercholesterolemia and hypoceruloplasminemia

Cefalu', A. B., Cisarò, F., Porta, F., Jaeken, J., Pinon, M., Reggiani, S., Lefeber, D. J., Sturiale, L., Spada, M., Rabbone, I., Garozzo, D. & Calvo, P. L., 2018, In : JIMD Reports. 38, p. 97-100 4 p.

Research output: Contribution to journalArticle

Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes

Cefalu', A. B., Averna, M., Masana, L., Fellin, R., Manzato, E., Sánchez-Hernández, R. M., Sirtori, C., Minicocci, I., Prieto-Matos, P., Vogt, A., Sjouke, B., D'Erasmo, L., Fuentes, F. J., Pavanello, C., Scardapane, M., Real, J. T., Real, J. T., Ascaso, J. F., Lafuente, E. E., Sánchez-Hernández, R. M. & 16 others, Roeters Van Lennep, J. E., Pintus, P., Zambon, S., Harada-Shiba, M., Pes, G. M., Bertolini, S., Calabresi, L., Nicolucci, A., Pocovi, M., Mata, P., Muntoni, S., Zambon, A., Arca, M., Fuentes, F. J., Pacifico, A. A. & Noto, D., 2018, In : Journal of the American College of Cardiology. 71, p. 279-288 10 p.

Research output: Contribution to journalArticle

12 Citations (Scopus)

Characterisation of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS): Establishment of an FCS clinical diagnostic score

Cefalu', A. B., Averna, M., Banach, M., D'Erasmo, L., Reiner, Ž., Bruckert, E., Stefanutti, C., Gouni-Berthold, I., Johnson, C., Di Costanzo, A., Hughes, E., Dufour, R., Borén, J., Pintó, X., Hughes, E., Van Lennep, J. R., Van Lennep, J. R., Soran, H., Marçais, C., Stroes, E. & 6 others, Pintó, X., Cramb, R., Arca, M., Moulin, P., Walther, L. A. A-S. & Noto, D., 2018, In : Data in Brief. 21, p. 1334-1336 3 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)
9 Citations (Scopus)

Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred

Cefalu', A. B., Barbagallo, C. M., Scrimali, C., Spina, R., Giammanco, A., Monastero, R., Averna, M., Valenti, V., Ingrassia, V., Misiano, G., Valenti, V., Spina, R., Cefalù, A. B., Ingrassia, V., Misiano, G., Averna, M. R., Noto, D. & Baschi, R., 2018, In : Journal of Clinical Lipidology. 12, p. 145-151 7 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an “FCS score”

Cefalu', A. B., Averna, M., Banach, M., D'Erasmo, L., Reiner, Ž., Bruckert, E., Stefanutti, C., Gouni-Berthold, I., Johnson, C., Di Costanzo, A., Hughes, E., Dufour, R., Borén, J., Pintó, X., Hughes, E., Van Lennep, J. R., Van Lennep, J. R., Alvarez-Sala Walther, L. A., Soran, H., Marçais, C. & 6 others, Stroes, E., Pintó, X., Cramb, R., Arca, M., Moulin, P. & Noto, D., 2018, In : ATHEROSCLEROSIS. 275, p. 265-272 8 p.

Research output: Contribution to journalArticle

30 Citations (Scopus)
6 Citations (Scopus)
2017
7 Citations (Scopus)

Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia

Cefalu', A. B., Averna, M., Spina, R., Minicocci, I., D'Erasmo, L., Polito, L., Di Costanzo, A., Di Leo, E., Cantisani, V., Tarugi, P., Arca, M. & Noto, D., 2017, In : Journal of Clinical Lipidology. 11, p. 1234-1242 9 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)

Efficacy of Lomitapide in the Treatment of Familial Homozygous Hypercholesterolemia: Results of a Real-World Clinical Experience in Italy

Averna, M., Cefalu', A. B., Giammanco, A., Suppressa, P., Calabrò, P., Sbrana, F., Vigna, G. B., Sirtori, C., D’Erasmo, L., Pavanello, C., Medde, P., Bigazzi, F., Pintus, P., Sampietro, T., Sileo, F., Natale, F., Sabbà, C., Calabresi, L., Arca, M., Bucci, M. & 2 others, Bonomo, K. & Noto, D., 2017, In : Advances in Therapy. 34, p. 1200-1210 11 p.

Research output: Contribution to journalArticle

18 Citations (Scopus)
16 Citations (Scopus)

Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing

Altieri, G. I., Valenti, V., Ingrassia, V., Cefalu', A. B., Cocorullo, G., Spina, R., Giammanco, A., Palesano, O., Misiano, G., Averna, M., Barbagallo, C. M., Scrimali, C., Valenti, V., Spina, R., Cefalù, A. B., Ingrassia, V., Scrimali, C., Misiano, G., Averna, M. R., Ganci, A. & 2 others, Noto, D. & Fayer, F., 2017, In : Journal of Clinical Lipidology. 11, p. 272-281 10 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)
19 Citations (Scopus)
2016

Albumin versus solvent/detergent-treated pooled plasma as replacement fluid for long-term plasma exchange therapy in a patient with primary hypertriglyceridemia and recurrent hyperlipidemic pancreatitis

Averna, M., Caruso, C., Cefalu', A. B., Giammanco, A., Barbagallo, C. M., Rizzo, C. M., Rizzo, S., Lima, G. M., Scirè, E., Di Bona, D., Rizzo, S., Caruso, C. & Lima, G. M., 2016, In : Transfusion. p. 755-760 6 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Baseline metabolic disturbances and the twenty-five years risk of incident cancer in a Mediterranean population

Valenti, V., Cefalu', A. B., Averna, M., Giammanco, A., Spina, R., Barbagallo, C. M., Sbordone, Burrascano, Termini, La Seta, Crupi, Cavera, G., Ganci, A. & Noto, D., 2016, In : NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES. 26, p. 1020-1025 6 p.

Research output: Contribution to journalArticle

17 Citations (Scopus)

Characterization of a mutant form of human apolipoprotein B (Thr26-Tyr27del) associated with familial hypobetalipoproteinemia

Averna, M., Cefalu', A. B., Magnolo, L., Calandra, S., Tarugi, P., Yao, Z. & Noto, D., 2016, In : BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS. 1861, p. 371-379 9 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)
4 Citations (Scopus)

Individual analysis of patients with HoFH participating in a phase 3 trial with lomitapide: The Italian cohort

Cefalu', A. B., Averna, M., Vigna, Sirtori, Stefanutti & Di Giacomo, 2016, In : NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES. 26, p. 36-44 9 p.

Research output: Contribution to journalArticle

8 Citations (Scopus)

Lomitapide affects HDL composition and function

Cefalu', A. B., Averna, M., Adorni, Verhoeven, Yahya, Sijbrands, E. J. G., Roeters Van Lennep, Favari, Sijbrands, Calabresi, L., Bernini, Mulder, Gomaraschi, M. & Zimetti, 2016, In : ATHEROSCLEROSIS. 251, p. 15-18 4 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up

Averna, M., Cefalu', A. B., Özaydın, E., Kırsaçlıoğlu, C., Koç, N., Atar, M. B., Gündüz, M., Köse, G., Tarugi, P. & Gündüz, M., 2016, In : Indian Journal of Gastroenterology. 35, p. 236-241 6 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Proprotein Convertase Subtilisin Kexin Type 9 Inhibition for Autosomal Recessive Hypercholesterolemia - Brief Report

Averna, M., Cefalu', A. B., Thedrez, A., Peter, J., Dallinga-Thie, G., Santos, R. D., Sjouke, B., Passard, M., Croyal, M., Prampart-Fauvet, S., Guédon, A., Cossu, M., Ciccarese, M., Pisciotta, L., Pintus, P., Hovingh, K., Ciccarese, M., Raal, F., Blom, D. & Lambert, G., 2016, In : Arteriosclerosis, Thrombosis, and Vascular Biology. 36, p. 1647-1650 4 p.

Research output: Contribution to journalArticle

14 Citations (Scopus)
2015
6 Citations (Scopus)

Exome sequencing in suspected monogenic dyslipidemias

Averna, M., Cefalu', A. B., Farlow, D. N., Kawashiri, M-A., Awan, Z., Larach, D. B., Genest, J., Mabuchi, H., Kastelein, J. J. P., Gupta, N., Mabuchi, H., Motazacker, M. M., Peloso, G. M., Deo, R., Boileau, C., Haller, J. F., Fouchier, S., Stitziel, N. O., Risman, M., Kathiresan, S. & 22 others, Varret, M., Shendure, J., Ruel, I., Hovingh, G. K., Rabès, J-P., Abifadel, M., Neale, B. M., Pullinger, C. R., Tarugi, P., Nohara, A., Nickerson, D. A., Rader, D. J., Rich, S. S., Daly, M. J., Haller, J. F., Gabriel, S., Yamagishi, M., Freeman, M. W., Kane, J. P., Wilson, J. G., Tada, H. & Noto, D., 2015, In : CIRCULATION. CARDIOVASCULAR GENETICS. 8, p. 343-350 8 p.

Research output: Contribution to journalArticle

29 Citations (Scopus)
3 Citations (Scopus)

Homozygous familial hypobetalipoproteinemia: Two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature

Cefalu', A. B., Spina, R., Averna, M., Valenti, V., Garlaschelli, K., Riva, E., Pederiva, C., Baragetti, A., Terracciano, L., Ghiglioni, D. G., Zoja, A., Norata, G. D., Uboldi, P., Catapano, A. L., Grigore, L. & Noto, D., 2015, In : ATHEROSCLEROSIS. 239, p. 209-217 9 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)

Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia

Cefalu', A. B., Valenti, V., Panno, M. D., Barbagallo, C. M., Spina, R., Giammanco, A., Ingrassia, V., Averna, M., Valenti, V., Spina, R., Cefalu, A. B., Ingrassia, V., Noto, D., Averna, M. R., Ganci, A. & Noto, D., 2015, In : Arteriosclerosis, Thrombosis, and Vascular Biology. 35, p. 2694-2699 6 p.

Research output: Contribution to journalArticle

8 Citations (Scopus)
16 Citations (Scopus)

Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia

Averna, M., Cefalu', A. B., Fresa, R., Rabacchi, C., Calandra, S., Pisciotta, L., Tarugi, P., Bertolini, S. & Noto, D., 2015, In : ATHEROSCLEROSIS. 241, p. 79-86 8 p.

Research output: Contribution to journalArticle

34 Citations (Scopus)

The pathophysiology of intestinal lipoprotein production

Averna, M., Cefalu', A. B., Giammanco, A. & Noto, D., 2015, In : Frontiers in Physiology. 6, p. 61- 10 p.

Research output: Contribution to journalArticle

14 Citations (Scopus)
2014

Beyond Statins: New Lipid Lowering Strategies to Reduce Cardiovascular Risk

Cefalu', A. B., Averna, M. & Noto, D., 2014, In : Current Atherosclerosis Reports. 16, p. 414-423 10 p.

Research output: Contribution to journalArticle

19 Citations (Scopus)

eNOS activation by HDL is impaired in genetic CETP deficiency

Averna, M., Cefalu', A. B., Veglia, F., Franceschini, G., Ossoli, A., Pozzi, S., Hovingh, G. K., Kuivenhoven, J. A., Calabresi, L., Nilsson, P. & Gomaraschi, M., 2014, In : PLoS One. 9

Research output: Contribution to journalArticle

27 Citations (Scopus)

Lomitapide: a novel drug for homozygous familial hypercholesterolemia

Averna, M. & Cefalu', A. B., 2014, In : CLINICAL LIPIDOLOGY. 9, p. 19-32 14 p.

Research output: Contribution to journalArticle

6 Citations (Scopus)
470 Citations (Scopus)
2013

A Novel APOB Mutation Identified by Exome Sequencing Cosegregates With Steatosis, Liver Cancer, and Hypocholesterolemia.

Averna, M., Valenti, V., Cefalu', A. B., Spina, R., Pirruccello, J. P., Gupta, N., Kathiresan, S., Tarugi, P., Gabriel, S. & Noto, D., 2013, In : Arteriosclerosis, Thrombosis, and Vascular Biology. 33, p. 2021-2025 5 p.

Research output: Contribution to journalArticle

42 Citations (Scopus)

Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis

Cefalu', A. B., Averna, M., Pigna, G., Ciociola, E., Arroyo, J. A., Minicocci, I., Calandra, S., Santini, S., Martí, G., Pannozzo, F., Stitziel, N., Kathiresan, S., Pisciotta, L., Ceci, F., Maranghi, M., Cantisani, V., Labbadia, G., Tarugi, P., Bertolini, S. & Arca, M., 2013, In : Journal of Lipid Research. 54, p. 3481-3490 10 p.

Research output: Contribution to journalArticle

29 Citations (Scopus)

Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study

Cefalu', A. B., Averna, M., Vigna, G. B., Hegele, R. A., Sirtori, C. R., Du Plessi, A. M. E., Shah, P. K., Stefanutti, C., Theron, H. D. T., Theron, H. D. T., Gaudet, D., Sasiela, W. J., Bloedon, L. T., Cuchel, M., Meagher, E. A., Blom, D. J., Marais, A. D., Rader, D. J., Propert, K. J. & Noto, D., 2013, In : The Lancet. 381, p. 40-46 7 p.

Research output: Contribution to journalArticle

438 Citations (Scopus)

Enhanced Lipid Peroxidation and Platelet Activation as Potential Contributors to Increased Cardiovascular Risk in the Low-HDL Phenotype

Cefalu', A. B., Averna, M., Lattanzio, S., Vazzana, N., Cefalù, A. B., Santoro, N., Ganci, A., Noto, D., Saggini, R., Puccetti, L., Averna, M., Davì, G. & Noto, D., 2013, In : JOURNAL OF THE AMERICAN HEART ASSOCIATION. CARDIOVASCULAR AND CEREBROVASCULAR DISEASE. 2

Research output: Contribution to journalArticle

18 Citations (Scopus)

Nonalcoholic fatty liver and metabolic syndrome in Italy: Results from a multicentric study of the Italian Arteriosclerosis society

Notarbartolo, A., Averna, M., Soresi, M., Cefalu', A. B., Cocorullo, G., Noto, D., Cattin, L., Fonda, M., Martini, S., Fellin, R., Manzato, E. & Vigna, G. B., 2013, In : Acta Diabetologica. 50, p. 241-249 9 p.

Research output: Contribution to journalArticle

25 Citations (Scopus)

Nonalcoholic fatty liver and metabolic syndrome in Italy: Results from a multicentric study of the Italian Arteriosclerosis society

Soresi, M., Cefalu', A. B., Cocorullo, G., Averna, M., Fellin, R., Manzato, E., Vigna, G. B., Cattin, L., Fonda, M., Martini, S., Notarbartolo, A. & Noto, D., 2013, In : Acta Diabetologica. 50, p. 241-249 9 p.

Research output: Contribution to journalArticle

25 Citations (Scopus)

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

Cefalu', A. B., Averna, M., Fresa, R., Rabacchi, C., Signori, A., Calandra, S., Pisciotta, L., Bertolini, S., Fasano, T. & Noto, D., 2013, In : ATHEROSCLEROSIS. 227, p. 342-348 7 p.

Research output: Contribution to journalArticle

85 Citations (Scopus)

The Atrial Natriuretic Peptide Genetic Variant Rs5068 Is Associated With a Favorable Cardiometabolic Phenotype in a Mediterranean Population

Averna, M., Cefalu', A. B., Burnett Jr., J. C., Pagano, M., Cavera, G., Cannone, V., Sapienza, M., Bailey, K. R., Scott, C. G. & Noto, D., 2013, In : Diabetes Care. 36, p. 2850-2856 7 p.

Research output: Contribution to journalArticle

33 Citations (Scopus)
2012

Lipid and apoprotein composition of HDL in partial or complete CETP deficiency

Cefalu', A. B., Averna, M., Dernick, G., Von Der Mark, E., Niesor, E. J., Tarugi, P., Calabresi, L. & Nilsson, P., 2012, In : Current Vascular Pharmacology. 10, p. 422-431 10 p.

Research output: Contribution to journalArticle

6 Citations (Scopus)

Nonalcoholic fatty liver and metabolic syndrome in Italy: results from a multicentric study of the Italian Arteriosclerosis society

Notarbartolo, A., Averna, M., Soresi, M., Cefalu', A. B., Cattin, L., Fonda, M., Martini, S., Fellin, R., Manzato, E. & Vigna, G. B., 2012, In : Acta Diabetologica. 50, p. 241-249 9 p.

Research output: Contribution to journalArticle

25 Citations (Scopus)

Prediction of incident type 2 diabetes mellitus based on a twenty-year follow-up of the Ventimiglia heart study

Cefalu', A. B., Barbagallo, C. M., Averna, M., Pagano, M., Cavera, G., Sapienza, M., Nardi, I., Notarbartolo, A. & Falletta, A., 2012, In : Acta Diabetologica. 49, p. 145-151 7 p.

Research output: Contribution to journalArticle

8 Citations (Scopus)