R. Spina

发表

Sources of markedness in language structures

W. Dressler, K. Dziubalska-Kolaczyk, R. Spina, 2001 .

Lack of phenotypic additive effect of familial defective apolipoprotein B3531 in familial hypercholesterolaemia

C. Barbagallo, D. Noto, R. Spina, 2021, Internal medicine journal.

Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia.

M. Taskinen, C. Barbagallo, D. Noto, 2009, The Journal of clinical endocrinology and metabolism.

Prevalence of ANGPTL3 and APOB Gene Mutations in Subjects With Combined Hypolipidemia

S. Kathiresan, D. Noto, P. Yue, 2012, Arteriosclerosis, thrombosis, and vascular biology.

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.

C. Barbagallo, D. Noto, M. Pitrone, 2016, Atherosclerosis.

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

G. I. Altieri, C. Barbagallo, D. Noto, 2016, Nutrition, metabolism, and cardiovascular diseases : NMCD.

Genetically determined hypercholesterolaemia results into premature leucocyte telomere length shortening and reduced haematopoietic precursors.

G. Norata, A. Catapano, L. Grigore, 2020, European journal of preventive cardiology.

Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients.

C. Barbagallo, D. Noto, R. Spina, 2022, Atherosclerosis.

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

C. Barbagallo, D. Noto, R. Monastero, 2017, Journal of clinical lipidology.

Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature.

D. Noto, L. Terracciano, G. Norata, 2015, Atherosclerosis.

A Novel APOB Mutation Identified by Exome Sequencing Cosegregates With Steatosis, Liver Cancer, and Hypocholesterolemia

S. Gabriel, S. Kathiresan, N. Gupta, 2013, Arteriosclerosis, thrombosis, and vascular biology.

rs629301 CELSR2 polymorphism confers a ten-year equivalent risk of critical stenosis assessed by coronary angiography.

G. I. Altieri, D. Girelli, O. Olivieri, 2021, Nutrition, metabolism, and cardiovascular diseases : NMCD.

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

D. Noto, I. Minicocci, A. Di Costanzo, 2017, Journal of clinical lipidology.

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

C. Barbagallo, D. Noto, D. Cabibi, 2020, Endocrine.

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

G. Biolo, E. Bonora, J. Werba, 2018, Atherosclerosis.

Comparison of two polygenic risk score to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects.

C. Barbagallo, D. Noto, M. L. Simone, 2022, Journal of clinical lipidology.

TGF-β/VEGF-A Genetic Variants Interplay in Genetic Susceptibility to Non-Melanocytic Skin Cancer

D. Lio, G. Accardi, G. Candore, 2022, Genes.

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

D. Noto, R. Spina, M. Averna, 2020, Biochimica et biophysica acta. Molecular and cell biology of lipids.

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

G. I. Altieri, C. Barbagallo, D. Noto, 2020, Atherosclerosis.

Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia

C. Barbagallo, D. Noto, R. Spina, 2015, Arteriosclerosis, thrombosis, and vascular biology.

DeepSRE: Identification of sterol responsive elements and nuclear transcription factors Y proximity in human DNA by Convolutional Neural Network analysis

D. Noto, R. Spina, M. Averna, 2021, PloS one.

Lifestyle versus ezetimibe plus lifestyle in patients with biopsy-proven non-alcoholic steatohepatitis (LISTEN): A double-blind randomised placebo-controlled trial.

D. Noto, A. Craxì, S. Petta, 2022, Nutrition, metabolism, and cardiovascular diseases : NMCD.

APOC-III: a Gatekeeper in Controlling Triglyceride Metabolism

R. Spina, M. Averna, A. Giammanco, 2023, Current Atherosclerosis Reports.

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

G. I. Altieri, C. Barbagallo, D. Noto, 2017, Journal of clinical lipidology.

Prevalence of ANGPTL3 and APOB Gene Mutations in Subjects With Combined Hypolipidemia

S. Kathiresan, D. Noto, P. Yue, 2012, Arteriosclerosis, thrombosis, and vascular biology.