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Risultati della ricerca

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

  Cefalu', A. B., Giammanco, A., Averna, M. & Noto, D., 2019, In: Current Medicinal Chemistry. 9 pag.

  Risultato della ricerca: Article › peer review

  • BMS201038
  • microsomal triglyceride transfer protein
  • Hyperlipoproteinemia Type II
  • Liver
  • Apolipoproteins B
  1 Citazioni (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, pag. 17-24 8 pag.

  Risultato della ricerca: Article › peer review

  • Hyperlipoproteinemia Type II
  • Mutation
  • Heterozygote
  • Apolipoproteins E
  • Italy
  26 Citazioni (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, pag. 1647-1650 4 pag.

  Risultato della ricerca: Article › peer review

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

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

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

  Risultato della ricerca: Article › peer review

  • Proprotein Convertase 9
  • oxidized low density lipoprotein
  • Epidermal Growth Factor
  • LDL Receptors
  • Peptides
  2 Citazioni (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, pag. 50-56 7 pag.

  Risultato della ricerca: Article › peer review

  • Myristic Acid
  • Proteoglycans
  • HDL Cholesterol
  • Fatty Acids
  • Hepatocellular Carcinoma
  10 Citazioni (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, pag. 236-241 6 pag.

  Risultato della ricerca: Article › peer review

  • microsomal triglyceride transfer protein
  • Mutation
  • Child
  • Genes
  • Abetalipoproteinemia
  4 Citazioni (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, pag. e86-. 1 pag.

  Risultato della ricerca: Other › peer review

• 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, pag. 15-18 4 pag.

  Risultato della ricerca: Article › peer review

  • BMS201038
  • Hyperlipoproteinemia Type II
  • HDL Cholesterol
  • Cholesterol
  • LDL Cholesterol
  4 Citazioni (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

  Risultato della ricerca: Article › peer review

  • Atherosclerosis
  • Cholesterol
  • HDL Cholesterol
  • Peroxisome Proliferator-Activated Receptors
  • Risk Reduction Behavior
  6 Citazioni (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, pag. 36-44 9 pag.

  Risultato della ricerca: Article › peer review

  • BMS201038
  • Hyperlipoproteinemia Type II
  • Clinical Trial Protocols
  • Safety
  • Transaminases
  8 Citazioni (Scopus)

• 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. e altri 2, Noto, D. & Fayer, F., 2017, In: Journal of Clinical Lipidology. 11, pag. 272-281 10 pag.

  Risultato della ricerca: Article › peer review

  • Nonsense Codon
  • Hypertriglyceridemia
  • Mutation
  • Triglycerides
  • Exons
  13 Citazioni (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. e altri 6, Stroes, E., Pintó, X., Cramb, R., Arca, M., Moulin, P. & Noto, D., 2018, In: ATHEROSCLEROSIS. 275, pag. 265-272 8 pag.

  Risultato della ricerca: Article › peer review

  • Hyperlipoproteinemia Type I
  • Pancreatitis
  • Triglycerides
  • Lipoprotein Lipase
  • Hypertriglyceridemia
  37 Citazioni (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, pag. e235-. 1 pag.

  Risultato della ricerca: Other › peer review

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

• 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, pag. 145-151 7 pag.

  Risultato della ricerca: Article › peer review

  • Autosomal Recessive Hypercholesterolemia
  • Sicily
  • Molecular Epidemiology
  • Italy
  • Hyperlipoproteinemia Type II
  5 Citazioni (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, pag. e37-. 1 pag.

  Risultato della ricerca: Other › peer review

• 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, pag. 1-12 12 pag.

  Risultato della ricerca: Article › peer review

  • Informatics
  • Workflow
  • Cluster Analysis
  • Alzheimer Disease
  • Plasmas
  4 Citazioni (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, pag. 11-16 6 pag.

  Risultato della ricerca: Article › peer review

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

• 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, pag. 413-418 6 pag.

  Risultato della ricerca: Article › peer review

  • Hyperlipoproteinemia Type II
  • Lipids
  • Population
  • Premature Birth
  • oxidized low density lipoprotein
  14 Citazioni (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, pag. 2373-2373 1 pag.

  Risultato della ricerca: Article › peer review

  • Informatics
  • Cluster Analysis
  • Alzheimer Disease
  • Chemical analysis

• 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. e altri 4, Arca, M., Bucci, M., Bonomo, K. & Noto, D., 2017, In: Advances in Therapy. 34, pag. 1200-1210 11 pag.

  Risultato della ricerca: Article › peer review

  • BMS201038
  • Hyperlipoproteinemia Type II
  • Italy
  • oxidized low density lipoprotein
  • Cholesterol
  23 Citazioni (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, pag. 1234-1242 9 pag.

  Risultato della ricerca: Article › peer review

  • Familial Hypobetalipoproteinemia
  • Apolipoproteins B
  • Cholesterol
  • Mutation
  • LDL Cholesterol
  9 Citazioni (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. pag. 1-12 12 pag.

  Risultato della ricerca: Article › peer review

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

• 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, pag. 371-379 9 pag.

  Risultato della ricerca: Article › peer review

  • Familial Hypobetalipoproteinemia
  • Apolipoprotein B-48
  • Apolipoproteins B
  • Hypobetalipoproteinemias
  • Ammonium Chloride
  3 Citazioni (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. e altri 6, Pintó, X., Cramb, R., Arca, M., Moulin, P., Walther, L. A. A-S. & Noto, D., 2018, In: Data in Brief. 21, pag. 1334-1336 3 pag.

  Risultato della ricerca: Article › peer review

  • Hyperlipoproteinemia Type I
  • Genotype
  2 Citazioni (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, pag. 1020-1025 6 pag.

  Risultato della ricerca: Article › peer review

  • Metabolic Syndrome
  • Obesity
  • Population
  • Neoplasms
  • Cardiovascular Diseases
  19 Citazioni (Scopus)

• 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. e altri 18, 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, pag. 279-288 10 pag.

  Risultato della ricerca: Article › peer review

  • Autosomal Recessive Hypercholesterolemia
  • LDL Cholesterol
  • BMS201038
  • Cardiovascular Diseases
  • Ezetimibe
  16 Citazioni (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, pag. 111-122 12 pag.

  Risultato della ricerca: Article › peer review

  • Familial Hypobetalipoproteinemia
  • Diabetes Mellitus
  • Systematic Reviews
  • Hyperlipoproteinemia Type II
  • LDL Cholesterol
  9 Citazioni (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, pag. 97-100 4 pag.

  Risultato della ricerca: Article › peer review

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

• 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.

  Risultato della ricerca: Article › peer review

  • oxidized low density lipoprotein
  • Lipids
  • Proprotein Convertases
  • Cholesterol
  • Monoclonal Antibodies
  5 Citazioni (Scopus)

• 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. pag. 755-760 6 pag.

  Risultato della ricerca: Article › peer review

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