C. Rabacchi

发表

Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease

B. Bembi, F. Platt, A. Sechi, 2014, Orphanet Journal of Rare Diseases.

A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene.

S. Bertolini, S. Calandra, C. Rabacchi, 2015, Journal of clinical lipidology.

Leucine 10 allelic variant in signal peptide of PCSK9 increases the LDL cholesterol-lowering effect of statins in patients with familial hypercholesterolaemia.

S. Bertolini, S. Calandra, L. Pisciotta, 2012, Nutrition, metabolism, and cardiovascular diseases : NMCD.

Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride.

S. Bertolini, P. Tarugi, S. Calandra, 2017, Journal of clinical lipidology.

Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.

C. Cortese, S. Bertolini, L. Iughetti, 2017, Atherosclerosis.

Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

G. Francis, R. Hegele, M. Reijman, 2022, The Lancet.

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

R. Fresa, D. Noto, S. Bertolini, 2013, Atherosclerosis.

Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features.

M. Arca, P. Calabrò, M. Bucci, 2020, Atherosclerosis.

Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene.

S. Bertolini, S. Palmisano, P. Tarugi, 2016, Journal of clinical lipidology.

Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations.

T. Sampietro, S. Bertolini, P. Tarugi, 2016, Journal of clinical lipidology.

A man with low cholesterol and weakness of the lower limbs

G. Ardolino, C. Vergani, B. Arosio, 2014, Internal and Emergency Medicine.

Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.

R. Fresa, D. Noto, S. Bertolini, 2015, Atherosclerosis.

Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion.

F. Mosca, S. Bertolini, E. Riva, 2013, JIMD reports.

Circulating mucosal associated invariant T cells identify patients responding to anti-PD1 therapy

C. Longo, S. Bicciato, G. Pellacani, 2020 .

Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.

M. Filocamo, S. Bertolini, S. Calandra, 2012, Molecular genetics and metabolism.

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.

A novel deletion of BRCA1 gene that eliminates the ATG initiation codon without affecting the promoter region.

L. Cortesi, M. L. Simone, S. Calandra, 2009, Clinica chimica acta; international journal of clinical chemistry.

The study of familial hypercholesterolemia in Italy: A narrative review.

Tommaso Fasano, S. Bertolini, S. Calandra, 2017, Atherosclerosis. Supplements.

An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia.

S. Bertolini, S. Calandra, L. Pisciotta, 2009, Clinica chimica acta; international journal of clinical chemistry.

Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.

I. Cortella, N. Vitturi, S. Bertolini, 2009, Molecular genetics and metabolism.

Can APOE and MTHFR polymorphisms have an influence on the severity of cardiovascular manifestations in Italian Pseudoxanthoma elasticum affected patients?

D. Quaglino, F. Boraldi, O. Vanakker, 2014, Molecular genetics and metabolism reports.

HDL‐mediated reduction of cholesterol content inhibits the proliferation of prostate cancer cells induced by LDL: Role of ABCA1 and proteasome inhibition

M. Ruscica, P. Parini, P. Tarugi, 2022, BioFactors.

Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.

B. Bembi, E. Favari, M. Adorni, 2012, Molecular genetics and metabolism.

Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis.

G. Olivecrona, N. Plana, D. Ibarretxe, 2016, Journal of Clinical Lipidology.

Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family

M. Rinelli, A. Giaccari, S. Calandra, 2023, Genes.

Circulating mucosal-associated invariant T cells identify patients responding to anti-PD-1 therapy

C. Longo, S. Bicciato, G. Pellacani, 2021, Nature Communications.

In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia.

S. Bertolini, M. L. Simone, A. Pietrangelo, 2019, Journal of clinical lipidology.

Novel mutations of SAR1B gene in four children with chylomicron retention disease.

S. Bertolini, Z. Kuloğlu, A. Kansu, 2019, Journal of clinical lipidology.

CLINICAL AND GENETIC FEATURES OF THREE PATIENTS WITH FAMILIAL CHYLOMICRONEMIA DUE TO MUTATIONS IN GPIHBP1 GENE

P. Tarugi, C. Rabacchi, MD Sergio D'Addato, 2016 .