Bertolini S - Search Results

1

Prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia.

Filigheddu F, Quagliarini F, Campagna F, Secci T, Degortes S, Zaninello R, Argiolas G, Verna R, Pitzoi S, Frau F, Troffa C, Bulla E, Bertolini S, Glorioso N, Arca M. Filigheddu F, et al. Among authors: bertolini s. Atherosclerosis. 2009 Nov;207(1):162-7. doi: 10.1016/j.atherosclerosis.2009.04.027. Epub 2009 May 4. Atherosclerosis. 2009. PMID: 19477448

2

Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison.

Pisciotta L, Priore Oliva C, Pes GM, Di Scala L, Bellocchio A, Fresa R, Cantafora A, Arca M, Calandra S, Bertolini S. Pisciotta L, et al. Among authors: bertolini s. Atherosclerosis. 2006 Oct;188(2):398-405. doi: 10.1016/j.atherosclerosis.2005.11.016. Epub 2005 Dec 15. Atherosclerosis. 2006. PMID: 16343504

3

The history of Autosomal Recessive Hypercholesterolemia (ARH). From clinical observations to gene identification.

Fellin R, Arca M, Zuliani G, Calandra S, Bertolini S. Fellin R, et al. Among authors: bertolini s. Gene. 2015 Jan 15;555(1):23-32. doi: 10.1016/j.gene.2014.09.020. Epub 2014 Sep 16. Gene. 2015. PMID: 25225128 Review.

4

Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features.

Bertolini S, Calandra S, Arca M, Averna M, Catapano AL, Tarugi P; Italian Study Group of Homozygous Familial Hypercholesterolemia. Bertolini S, et al. Atherosclerosis. 2020 Nov;312:72-78. doi: 10.1016/j.atherosclerosis.2020.08.027. Epub 2020 Sep 9. Atherosclerosis. 2020. PMID: 32977124

5

Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis.

Arca M, Zuliani G, Wilund K, Campagna F, Fellin R, Bertolini S, Calandra S, Ricci G, Glorioso N, Maioli M, Pintus P, Carru C, Cossu F, Cohen J, Hobbs HH. Arca M, et al. Among authors: bertolini s. Lancet. 2002 Mar 9;359(9309):841-7. doi: 10.1016/S0140-6736(02)07955-2. Lancet. 2002. PMID: 11897284

6

Adaptor protein ARH is recruited to the plasma membrane by low density lipoprotein (LDL) binding and modulates endocytosis of the LDL/LDL receptor complex in hepatocytes.

Sirinian MI, Belleudi F, Campagna F, Ceridono M, Garofalo T, Quagliarini F, Verna R, Calandra S, Bertolini S, Sorice M, Torrisi MR, Arca M. Sirinian MI, et al. Among authors: bertolini s. J Biol Chem. 2005 Nov 18;280(46):38416-23. doi: 10.1074/jbc.M504343200. Epub 2005 Aug 29. J Biol Chem. 2005. PMID: 16129683 Free article.

7

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

Averna M, Cefalù AB, Casula M, Noto D, Arca M, Bertolini S, Calandra S, Catapano AL, Tarugi P; LIPIGEN Group. Averna M, et al. Among authors: bertolini s. Atheroscler Suppl. 2017 Oct;29:11-16. doi: 10.1016/j.atherosclerosissup.2017.07.001. Atheroscler Suppl. 2017. PMID: 28965615 Free article.

8

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.

Pirillo A, Garlaschelli K, Arca M, Averna M, Bertolini S, Calandra S, Tarugi P, Catapano AL; LIPIGEN Group. Pirillo A, et al. Among authors: bertolini s. Atheroscler Suppl. 2017 Oct;29:17-24. doi: 10.1016/j.atherosclerosissup.2017.07.002. Atheroscler Suppl. 2017. PMID: 28965616 Free article.

9

Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes.

D'Erasmo L, Minicocci I, Nicolucci A, Pintus P, Roeters Van Lennep JE, Masana L, Mata P, Sánchez-Hernández RM, Prieto-Matos P, Real JT, Ascaso JF, Lafuente EE, Pocovi M, Fuentes FJ, Muntoni S, Bertolini S, Sirtori C, Calabresi L, Pavanello C, Averna M, Cefalu AB, Noto D, Pacifico AA, Pes GM, Harada-Shiba M, Manzato E, Zambon S, Zambon A, Vogt A, Scardapane M, Sjouke B, Fellin R, Arca M. D'Erasmo L, et al. Among authors: bertolini s. J Am Coll Cardiol. 2018 Jan 23;71(3):279-288. doi: 10.1016/j.jacc.2017.11.028. J Am Coll Cardiol. 2018. PMID: 29348020 Free article.

10

Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia.

Bertolini S, Pisciotta L, Di Scala L, Langheim S, Bellocchio A, Masturzo P, Cantafora A, Martini S, Averna M, Pes G, Stefanutti C, Calandra S. Bertolini S, et al. Atherosclerosis. 2004 May;174(1):57-65. doi: 10.1016/j.atherosclerosis.2003.12.037. Atherosclerosis. 2004. PMID: 15135251

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