Calandra S - Search Results

1

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

Sechi A, Dardis A, Zampieri S, Rabacchi C, Zanoni P, Calandra S, De Maglio G, Pizzolitto S, Maruotti V, Di Muzio A, Platt F, Bembi B. Sechi A, et al. Among authors: calandra s. Orphanet J Rare Dis. 2014 Sep 18;9:143. doi: 10.1186/s13023-014-0143-3. Orphanet J Rare Dis. 2014. PMID: 25227739 Free PMC article.

2

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

Fasano T, Zanoni P, Rabacchi C, Pisciotta L, Favari E, Adorni MP, Deegan PB, Park A, Hlaing T, Feher MD, Jones B, Uzak AS, Kardas F, Dardis A, Sechi A, Bembi B, Minuz P, Bertolini S, Bernini F, Calandra S. Fasano T, et al. Among authors: calandra s. Mol Genet Metab. 2012 Nov;107(3):534-41. doi: 10.1016/j.ymgme.2012.08.005. Epub 2012 Aug 18. Mol Genet Metab. 2012. PMID: 22959828

3

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

Buonuomo PS, Iughetti L, Pisciotta L, Rabacchi C, Papadia F, Bruzzi P, Tummolo A, Bartuli A, Cortese C, Bertolini S, Calandra S. Buonuomo PS, et al. Among authors: calandra s. Atherosclerosis. 2017 Jul;262:71-77. doi: 10.1016/j.atherosclerosis.2017.05.002. Epub 2017 May 4. Atherosclerosis. 2017. PMID: 28521186

4

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.

Fancello T, Dardis A, Rosano C, Tarugi P, Tappino B, Zampieri S, Pinotti E, Corsolini F, Fecarotta S, D'Amico A, Di Rocco M, Uziel G, Calandra S, Bembi B, Filocamo M. Fancello T, et al. Among authors: calandra s. Neurogenetics. 2009 Jul;10(3):229-39. doi: 10.1007/s10048-009-0175-3. Epub 2009 Feb 28. Neurogenetics. 2009. PMID: 19252935

5

A man with low cholesterol and weakness of the lower limbs.

Lucchi T, Calandra S, Rabacchi C, Conti G, Ardolino G, Assolari L, Arosio B, Vergani C. Lucchi T, et al. Among authors: calandra s. Intern Emerg Med. 2014 Jun;9(4):449-53. doi: 10.1007/s11739-014-1059-6. Epub 2014 Feb 27. Intern Emerg Med. 2014. PMID: 24574004 No abstract available.

6

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

Fasano T, Pisciotta L, Bocchi L, Guardamagna O, Assandro P, Rabacchi C, Zanoni P, Filocamo M, Bertolini S, Calandra S. Fasano T, et al. Among authors: calandra s. Mol Genet Metab. 2012 Mar;105(3):450-6. doi: 10.1016/j.ymgme.2011.12.008. Epub 2011 Dec 17. Mol Genet Metab. 2012. PMID: 22227072

7

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

Bertolini S, Pisciotta L, Fasano T, Rabacchi C, Calandra S. Bertolini S, et al. Among authors: calandra s. Atheroscler Suppl. 2017 Oct;29:1-10. doi: 10.1016/j.atherosclerosissup.2017.07.003. Atheroscler Suppl. 2017. PMID: 28965614 Free article. Review.

8

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

Buonuomo PS, Bartuli A, Rabacchi C, Bertolini S, Calandra S. Buonuomo PS, et al. Among authors: calandra s. J Clin Lipidol. 2015 Mar-Apr;9(2):265-70. doi: 10.1016/j.jacl.2014.10.003. Epub 2014 Oct 13. J Clin Lipidol. 2015. PMID: 25911085

9

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

Rabacchi C, Bigazzi F, Puntoni M, Sbrana F, Sampietro T, Tarugi P, Bertolini S, Calandra S. Rabacchi C, et al. Among authors: calandra s. J Clin Lipidol. 2016 Jul-Aug;10(4):944-952.e1. doi: 10.1016/j.jacl.2016.04.005. Epub 2016 Apr 21. J Clin Lipidol. 2016. PMID: 27578127

10

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

Rabacchi C, Wunsch A, Ghisellini M, Marino M, Pisciotta L, Bertolini S, Calandra S. Rabacchi C, et al. Among authors: calandra s. Clin Chim Acta. 2009 Aug;406(1-2):75-80. doi: 10.1016/j.cca.2009.05.017. Epub 2009 May 23. Clin Chim Acta. 2009. PMID: 19467224

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