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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
Averna, M., Cefalu', A. B., Barbagallo, C. 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
10 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 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
11 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, , 2017, In: Advances in Therapy. 34, p. 1200-1210 11 p.Research output: Contribution to journal › Article › peer-review
25 Citations (Scopus) -
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
26 Citations (Scopus) -
Genotypic and phenotypic characterization of patients with autosomal dominant hypercholesterolemia in sicily
Averna, M., Misiano, G., Valenti, V., Giammanco, A., Scrimali, C., Cefalu', A. B., Ingrassia, V., Altieri, G. I., Barbagallo, C. M., Spina, R., Ganci, A., Noto, D. & Fayer, F., 2017, p. e235-. 1 p.Research output: Contribution to conference › Other › peer-review
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Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing
Ingrassia, V., Averna, M., Spina, R., Scrimali, C., Misiano, G., Barbagallo, C. M., Altieri, G. I., Palesano, O., Cefalu', A. B., Cocorullo, G., Giammanco, A., Valenti, V., Valenti, V., Spina, R., Cefalù, A. B., Ingrassia, V., Scrimali, C., Misiano, G., Averna, M. R., Ganci, A. & 2 others, , 2017, In: Journal of Clinical Lipidology. 11, p. 272-281 10 p.Research output: Contribution to journal › Article › peer-review
14 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
31 Citations (Scopus) -
2019
PCSK9-D374Y mediated LDL-R degradation can be functionally inhibited by EGF-A and truncated EGF-A peptides: An in vitro study
Barbagallo, C. M., Averna, M., Misiano, G., Spina, R., Cefalu', A. B., Altieri, G. I., Ingrassia, V., Scrimali, C., Brucato, F., Noto, D. & Fayer, F., 2019, In: ATHEROSCLEROSIS. 292, p. 209-214 6 p.Research output: Contribution to journal › Article › peer-review
2 Citations (Scopus)