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  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

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

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

• 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
• Article

  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., Giammanco, A., Caruso, C., 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 journal › Article › peer-review

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

• 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
  10 Citations (Scopus)

• Automated untargeted stable isotope assisted lipidomics of liver cells on high glucose shows alteration of sphingolipid kinetics

  Spina, R., Scrimali, C., Cefalu', A. B. & Di Gaudio, F., 2020, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS. 1865, p. 158656- 8 p.

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

  1 Citation (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., Spina, R., Giammanco, A., 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)

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

  Cefalu', A. B., Spina, R., Averna, M., Minicocci, I., D'Erasmo, L., Polito, L., Di Costanzo, A., 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
  10 Citations (Scopus)

• Effectiveness and safety of lomitapide in a patient with familial chylomicronemia syndrome

  Averna, M., Cabibi, D., Spina, R., Barbagallo, C. M., Cefalu', A. B. & Noto, D., 2020, In: ENDOCRINE. 7 p.

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

• 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
  24 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)

  Bongiorno, D., Monastero, R., Altieri, G. I., Di Gaudio, F., Averna, M., Indelicato, S., Palesano, O., Greco, M., Aronica, A., Cefalu', A. B., 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

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

  Averna, M., Barbagallo, C. 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
  25 Citations (Scopus)

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

  Monastero, R., Altieri, G. I., Bongiorno, D., Averna, M., Aronica, A., Di Gaudio, F., 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)

• Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features

  Cefalu', A. B., Averna, M., Suppressa, P., Trenti, C., Calabrò, P., Rabacchi, C., Sbrana, F., Casula, M., D'Erasmo, L., D'Addato, S., Calandra, S., Pavanello, C., Ripoli, C., Ibba, A., Pasta, A., Negri, E. A., Buonuomo, P. S., Pisciotta, L., Zenti, M. G., Sampietro, T. & 10 others, Sileo, F., Bartuli, A., Iannuzzo, G., Cicero, A., Tarugi, P., Bertolini, S., Catapano, A. L., Arca, M., Bucci, M. & Fasano, T., 2020, In: ATHEROSCLEROSIS. 312, p. 72-78 7 p.

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

  1 Citation (Scopus)

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

  Spina, R., Scrimali, C., Averna, M., Ingrassia, V., Misiano, G., Altieri, G. I., Barbagallo, C. M., 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)

• 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)

• 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

  Averna, M., Valenti, V., Pitrone, M., Pizzolanti, G., Palesano, O., Barbagallo, C. M., Spina, R., Cefalu', A. B., 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)

• NPC1L1 and ABCG5/8 induction explain synergistic fecal cholesterol excretion in ob/ob mice co-treated with PPAR-α and LXR agonists

  Averna, M., Cefalu', A. B., Srivastava, N. S. & Srivastava, R. A. K., 2020, In: Molecular and Cellular Biochemistry. 473, p. 247-262 16 p.

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

• PCSK9-D374Y mediated LDL-R degradation can be functionally inhibited by EGF-A and truncated EGF-A peptides: An in vitro study

  Spina, R., Averna, M., Misiano, G., Cefalu', A. B., Altieri, G. I., Ingrassia, V., Scrimali, C., Brucato, F., Barbagallo, C. M., Noto, D. & Fayer, F., 2019, In: ATHEROSCLEROSIS. 292, p. 209-214 6 p.

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

  • Proprotein Convertase 9
  • oxidized low density lipoprotein
  • Epidermal Growth Factor
  • LDL Receptors
  • Peptides
  2 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)

• Rapid degradation of ABCA1 protein following cAMP withdrawal and treatment with PKA inhibitor suggests ABCA1 is a short-lived protein primarily regulated at the transcriptional level

  Averna, M., Cefalu', A. B. & Srivastava, R. A. K., 2020, In: Journal of Diabetes and Metabolic Disorders. 19, p. 363-371 9 p.

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

• 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
  30 Citations (Scopus)

• Therapeutic options for homozygous familial hypercholesterolemia: the role of Lomitapide

  Giammanco, A., Averna, M., Cefalu', A. B. & Noto, D., 2020, In: Current Medicinal Chemistry. 27, p. 3773-3783 11 p.

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

  • BMS201038
  • microsomal triglyceride transfer protein
  • Hyperlipoproteinemia Type II
  • Liver
  • Apolipoproteins B
  1 Citation (Scopus)