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• 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., Cefalu', A. B., Barbagallo, C. M., Giammanco, A., Caruso, C., 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 journal › Article › peer-review

  • Plasma Exchange
  • Hypertriglyceridemia
  • Detergents
  • Pancreatitis
  • Albumins
  4 Citations (Scopus)

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

  Barbagallo, C. M., Cefalu', A. B., Averna, M., Giammanco, A., Spina, R., Valenti, V., 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 journal › Article › peer-review

  • Metabolic Syndrome
  • Obesity
  • Population
  • Neoplasms
  • Cardiovascular Diseases
  19 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 journal › Article › peer-review

  • Familial Hypobetalipoproteinemia
  • Apolipoprotein B-48
  • Apolipoproteins B
  • Hypobetalipoproteinemias
  • Ammonium Chloride
  3 Citations (Scopus)

• Erratum: FragClust and TestClust, two informatics tools for chemical structure hierarchical clustering analysis applied to lipidomics. The example of Alzheimer's disease (Analytical and Bioanalytical Chemistry DOI: 10.1007/s00216-015-9229-6)

  Greco, M., Cefalu', A. B., Bongiorno, D., Altieri, G. I., Monastero, R., Di Gaudio, F., Averna, M., Palesano, O., Indelicato, S., Aronica, A., Noto, D., Fayer, F. & Indelicato, S., 2016, In: Analytical and Bioanalytical Chemistry. 408, p. 2373-2373 1 p.

  Research output: Contribution to journal › Article › peer-review

  • Informatics
  • Cluster Analysis
  • Alzheimer Disease
  • Chemical analysis

• FragClust and TestClust, two informatics tools for chemical structure hierarchical clustering analysis applied to lipidomics. The example of Alzheimer's disease

  Monastero, R., Bongiorno, D., Altieri, G. I., Di Gaudio, F., Averna, M., Aronica, A., Cefalu', A. B., Indelicato, S., Palesano, O., Greco, M., Noto, D., Fayer, F., Fontana, M. & Indelicato, S., 2016, In: Analytical and Bioanalytical Chemistry. 408, p. 1-12 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Informatics
  • Workflow
  • Cluster Analysis
  • Alzheimer Disease
  • Plasmas
  4 Citations (Scopus)

• Genetic epidemiology of ARH in Sicily

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

  Research output: Contribution to conference › Other › peer-review

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

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

  Research output: Contribution to journal › Article › peer-review

  • BMS201038
  • Hyperlipoproteinemia Type II
  • Clinical Trial Protocols
  • Safety
  • Transaminases
  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 journal › Article › peer-review

  • BMS201038
  • Hyperlipoproteinemia Type II
  • HDL Cholesterol
  • Cholesterol
  • LDL Cholesterol
  4 Citations (Scopus)

• Metabolic disturbances and risk of cancer in the 25 years follow-up of the “Ventimiglia Heart Study” epidemiological project

  Palesano, O., Altieri, G. I., Cefalu', A. B., Barbagallo, C. M., Fayer, F. & La Cavera, G., 2016, p. e86-. 1 p.

  Research output: Contribution to conference › Other › peer-review

• 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 journal › Article › peer-review

  • microsomal triglyceride transfer protein
  • Mutation
  • Child
  • Genes
  • Abetalipoproteinemia
  4 Citations (Scopus)

• Myristic acid is associated to low plasma HDL cholesterol levels in a Mediterranean population and increases HDL catabolism by enhancing HDL particles trapping to cell surface proteoglycans in a liver hepatoma cell model

  Spina, R., Cefalu', A. B., Averna, M., Valenti, V., Pitrone, M., Pizzolanti, G., Palesano, O., Barbagallo, C. M., Giordano, C., Noto, D. & Fayer, F., 2016, In: ATHEROSCLEROSIS. 246, p. 50-56 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Myristic Acid
  • Proteoglycans
  • HDL Cholesterol
  • Fatty Acids
  • Hepatocellular Carcinoma
  10 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 journal › Article › peer-review

  • Autosomal Recessive Hypercholesterolemia
  • Proprotein Convertase 9
  • alirocumab
  • Lymphocytes
  • LDL Receptors
  14 Citations (Scopus)
• 2017

  Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol–diabetes connection? A systematic review of literature

  Cefalu', A. B., Barbagallo, C. M., Averna, M., Noto, D., Tarugi, P., Averna, M. R., Arca, M. & Noto, D., 2017, In: Acta Diabetologica. 54, p. 111-122 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Familial Hypobetalipoproteinemia
  • Diabetes Mellitus
  • Systematic Reviews
  • Hyperlipoproteinemia Type II
  • LDL Cholesterol
  9 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 journal › Article › peer-review

  • Familial Hypobetalipoproteinemia
  • Apolipoproteins B
  • Cholesterol
  • Mutation
  • LDL Cholesterol
  9 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., Sirtori, C., Pavanello, C., Medde, P., Sirtori, C., Bigazzi, F., Pintus, P., Sampietro, T., Sileo, F., Natale, F., Sabbà, C., Calabresi, L. & 4 others, Arca, M., Bucci, M., Bonomo, K. & Noto, D., 2017, In: Advances in Therapy. 34, p. 1200-1210 11 p.

  Research output: Contribution to journal › Article › peer-review

  • BMS201038
  • Hyperlipoproteinemia Type II
  • Italy
  • oxidized low density lipoprotein
  • Cholesterol
  23 Citations (Scopus)

• Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

  Barbagallo, C. M., Averna, M., Averna, M., Cefalu', A. B., Spina, R. & Noto, D., 2017, In: Atherosclerosis Supplements. 29, p. 11-16 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Hyperlipoproteinemia Type II
  • Inborn Genetic Diseases
  • Atherosclerosis
  • Lipids
  • Dyslipidemias
  23 Citations (Scopus)

• Genotypic and phenotypic characterization of patients with autosomal dominant hypercholesterolemia in sicily

  Misiano, G., Valenti, V., Scrimali, C., Giammanco, A., Cefalu', A. B., Ingrassia, V., Altieri, G. I., Barbagallo, C. M., Spina, R., Averna, M., Ganci, A., Noto, D. & Fayer, F., 2017, p. e235-. 1 p.

  Research output: Contribution to conference › Other › peer-review

  • Sicily
  • Hyperlipoproteinemia Type II
  • Mutation
  • Xanthomatosis
  • Tendons

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

  Ingrassia, V., Averna, M., Scrimali, C., Spina, R., Misiano, G., Barbagallo, C. M., Altieri, G. I., Palesano, O., Giammanco, A., Cocorullo, G., Cefalu', A. B., Valenti, V., 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 journal › Article › peer-review

  • Nonsense Codon
  • Hypertriglyceridemia
  • Mutation
  • Triglycerides
  • Exons
  13 Citations (Scopus)

• Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

  Averna, M., Cefalu', A. B., Spina, R. & Noto, D., 2017, In: Atherosclerosis Supplements. 29, p. 17-24 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Hyperlipoproteinemia Type II
  • Mutation
  • Heterozygote
  • Apolipoproteins E
  • Italy
  26 Citations (Scopus)
• 2018

  Anti-PCSK9 treatment: Is ultra-low LDL always good?

  Averna, M., Giammanco, A., Barbagallo, C. M., Cefalu', A. B. & Noto, D., 2018, In: Cardiovascular Research.

  Research output: Contribution to journal › Article › peer-review

  • oxidized low density lipoprotein
  • Lipids
  • Proprotein Convertases
  • Cholesterol
  • Monoclonal Antibodies
  5 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 journal › Article › peer-review

  • Congenital disorder of glycosylation type II
  • Glycosylation
  • Familial apoceruloplasmin deficiency
  • Hypercholesterolemia
  • Genes

• 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., Sirtori, C., Pavanello, C., Scardapane, M., Real, J. T., Real, J. T., Ascaso, J. F., Lafuente, E. E. & 18 others, Sánchez-Hernández, R. M., Sirtori, C., 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 journal › Article › peer-review

  • Autosomal Recessive Hypercholesterolemia
  • LDL Cholesterol
  • BMS201038
  • Cardiovascular Diseases
  • Ezetimibe
  16 Citations (Scopus)

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

  Averna, M., Cefalu', A. B., 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 journal › Article › peer-review

  • Hyperlipoproteinemia Type I
  • Genotype
  2 Citations (Scopus)

• Circulating Molecular Chaperones in Subjects with Amnestic Mild Cognitive Impairment and Alzheimer's Disease: Data from the Zabùt Aging Project

  Marino Gammazza, A., Accardi, G., Cefalu', A. B., Monastero, R., Caruso Bavisotto, C., Cappello, F., Restivo, V. & Baschi, R., 2018, In: Journal of Alzheimer's Disease. p. 1-12 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Molecular Chaperones
  • Cognitive Dysfunction
  • Alzheimer Disease
  • Sicily
  • Italy

• Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study

  Averna, M., Cefalu', A. B., Spina, R. & Noto, D., 2018, In: ATHEROSCLEROSIS. 277, p. 413-418 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Hyperlipoproteinemia Type II
  • Lipids
  • Population
  • Premature Birth
  • oxidized low density lipoprotein
  14 Citations (Scopus)

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

  Monastero, R., Cefalu', A. B., Scrimali, C., Spina, R., Giammanco, A., Valenti, V., Ingrassia, V., Barbagallo, C. M., Averna, M., 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 journal › Article › peer-review

  • Autosomal Recessive Hypercholesterolemia
  • Sicily
  • Molecular Epidemiology
  • Italy
  • Hyperlipoproteinemia Type II
  5 Citations (Scopus)

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

  Averna, M., Cefalu', A. B., 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 journal › Article › peer-review

  • Hyperlipoproteinemia Type I
  • Pancreatitis
  • Triglycerides
  • Lipoprotein Lipase
  • Hypertriglyceridemia
  37 Citations (Scopus)

• Lack of Correlation of Plasma HDL With Fecal Cholesterol and Plasma Cholesterol Efflux Capacity Suggests Importance of HDL Functionality in Attenuation of Atherosclerosis

  Cefalu', A. B., Averna, M., Srivastava, N. & Srivastava, R. A. K., 2018, In: Frontiers in Physiology. 9

  Research output: Contribution to journal › Article › peer-review

  • Atherosclerosis
  • Cholesterol
  • HDL Cholesterol
  • Peroxisome Proliferator-Activated Receptors
  • Risk Reduction Behavior
  6 Citations (Scopus)