• 3399 Citations
  • 29 h-Index
19952019

Research output per year

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Research Output

  • 3399 Citations
  • 29 h-Index
  • 131 Article
  • 73 Other
  • 25 Book/Film/Article review
  • 2 Paper
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

Ingrassia, V., Misiano, G., Cefalu', A. B., Spina, R., Scrimali, C., Giammanco, A., Barbagallo, C. M., Monastero, R., Averna, M., Valenti, V., 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

29 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

Averna, M., Cefalu', A. B., 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

Cefalu', A. B., Giammanco, A., Averna, M., 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

Valenti, V., Altieri, G. I., Ingrassia, V., Cocorullo, G., Cefalu', A. B., Barbagallo, C. M., Spina, R., Giammanco, A., Palesano, O., Averna, M., Misiano, G., 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)
18 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., Barbagallo, C. M., Cefalu', A. B., Caruso, C., Giammanco, A., 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., Averna, M., Cefalu', A. B., 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

Cefalu', A. B., Averna, M., 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)

Genetic epidemiology of ARH in Sicily

Scrimali, C., Altieri, G. I., Cefalu', A. B., Misiano, G., Palesano, O., Barbagallo, C. M. & Fayer, F., 2016, p. e37-. 1 p.

Research output: Contribution to conferenceOther

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

Averna, M., Cefalu', A. B., 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

Cefalu', A. B., Averna, M., 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

Cefalu', A. B., Averna, M., 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., Averna, M., Spina, R., 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

Ingrassia, V., Cefalu', A. B., Valenti, V., Panno, M. D., Spina, R., Giammanco, A., Barbagallo, C. M., 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., Giammanco, A., Cefalu', A. B. & 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

Cefalu', A. B. & Averna, M., 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.

Cefalu', A. B., Averna, M., Valenti, V., 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)

A NOVEL APOB MUTATION IDENTIFIEDBY EXOME SEQUENCING COSEGREGATESWITH STEATOSIS, LIVER CANCERAND HYPOCHOLESTEROLEMIA

Valenti, V., Cefalu', A. B., Averna, M., Palesano, O., Altieri, G. I., Spina, R., Pirruccello, J. P., Gupta, N., Kathiresan, S., Tarugi, P., Gabriel, S. & Fayer, F., 2013, p. 116-116. 1 p.

Research output: Contribution to conferenceOther

42 Citations (Scopus)

CLINICAL CHARACTERISTICS AND PLASMALIPIDS IN SUBJECTS WITH FAMILIALCOMBINED 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. & 1 others, Noto, D., 2013, p. 3481-3490. 10 p.

Research output: Contribution to conferenceOther

29 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)