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202 results
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Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis.
Garuti R, Croce MA, Tiozzo R, Dotti MT, Federico A, Bertolini S, Calandra S. Garuti R, et al. Among authors: calandra s. J Lipid Res. 1997 Nov;38(11):2322-34. J Lipid Res. 1997. PMID: 9392430
A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis.
Schneider H, Lingesleben A, Vogel HP, Garuti R, Calandra S. Schneider H, et al. Among authors: calandra s. Orphanet J Rare Dis. 2010 Oct 6;5:27. doi: 10.1186/1750-1172-5-27. Orphanet J Rare Dis. 2010. PMID: 20925952 Free PMC article.
Coronary heart disease in a patient with cerebrotendinous xanthomatosis.
Valdivielso P, Calandra S, Durán JC, Garuti R, Herrera E, González P. Valdivielso P, et al. Among authors: calandra s. J Intern Med. 2004 Jun;255(6):680-3. doi: 10.1111/j.1365-2796.2004.01316.x. J Intern Med. 2004. PMID: 15147532
Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.
Dotti MT, Federico A, Garuti R, Calandra S. Dotti MT, et al. Among authors: calandra s. Mov Disord. 2000 Sep;15(5):1017-9. doi: 10.1002/1531-8257(200009)15:5<1017::aid-mds1043>;2-f. Mov Disord. 2000. PMID: 11009219 No abstract available.
Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.
Lamon-Fava S, Schaefer EJ, Garuti R, Salen G, Calandra S. Lamon-Fava S, et al. Among authors: calandra s. Clin Genet. 2002 Mar;61(3):185-91. doi: 10.1034/j.1399-0004.2002.610303.x. Clin Genet. 2002. PMID: 12000359
Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency.
Pisciotta L, Miccoli R, Cantafora A, Calabresi L, Tarugi P, Alessandrini P, Bittolo Bon G, Franceschini G, Cortese C, Calandra S, Bertolini S. Pisciotta L, et al. Among authors: calandra s. Atherosclerosis. 2003 Apr;167(2):335-45. doi: 10.1016/s0021-9150(03)00020-0. Atherosclerosis. 2003. PMID: 12818417
Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis.
Minicocci I, Santini S, Cantisani V, Stitziel N, Kathiresan S, Arroyo JA, Martí G, Pisciotta L, Noto D, Cefalù AB, Maranghi M, Labbadia G, Pigna G, Pannozzo F, Ceci F, Ciociola E, Bertolini S, Calandra S, Tarugi P, Averna M, Arca M. Minicocci I, et al. Among authors: calandra s. J Lipid Res. 2013 Dec;54(12):3481-90. doi: 10.1194/jlr.P039875. Epub 2013 Sep 20. J Lipid Res. 2013. PMID: 24058201 Free PMC article.
Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene.
Altilia S, Pisciotta L, Garuti R, Tarugi P, Cantafora A, Calabresi L, Tagliabue J, Maccari S, Bernini F, Zanotti I, Vergani C, Bertolini S, Calandra S. Altilia S, et al. Among authors: calandra s. J Lipid Res. 2003 Feb;44(2):254-64. doi: 10.1194/jlr.M200248-JLR200. Epub 2002 Nov 4. J Lipid Res. 2003. PMID: 12576507
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
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.
Magnolo L, Najah M, Fancello T, Di Leo E, Pinotti E, Brini I, Gueddiche NM, Calandra S, Slimene NM, Tarugi P. Magnolo L, et al. Among authors: calandra s. Gene. 2013 Jan 1;512(1):28-34. doi: 10.1016/j.gene.2012.09.117. Epub 2012 Oct 6. Gene. 2013. PMID: 23043934
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