Bertelli M - Search Results

1

Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency.

Parvaneh N, Teimourian S, Jacomelli G, Badalzadeh M, Bertelli M, Zakharova E, Tabatabaei P, Parvaneh L, Pourakbari B, Yeganeh M, Tamizifar B, Mamishi S, Micheli V. Parvaneh N, et al. Among authors: bertelli m. Clin Biochem. 2008 Mar;41(4-5):350-2. doi: 10.1016/j.clinbiochem.2007.11.007. Epub 2007 Nov 21. Clin Biochem. 2008. PMID: 18067860 No abstract available.

2

Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease).

Bertelli M, Cecchin S, Lapucci C, Jacomelli G, Jinnah HA, Pandolfo M, Micheli V. Bertelli M, et al. Clin Chim Acta. 2006 Nov;373(1-2):104-7. doi: 10.1016/j.cca.2006.05.013. Epub 2006 May 17. Clin Chim Acta. 2006. PMID: 16793031

3

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations.

Bertelli M, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M. Bertelli M, et al. J Inherit Metab Dis. 2004;27(6):767-73. doi: 10.1023/B:BOLI.0000045799.78633.23. J Inherit Metab Dis. 2004. PMID: 15505382

4

Gene expression and mRNA editing of serotonin receptor 2C in brains of HPRT gene knock-out mice, an animal model of Lesch-Nyhan disease.

Bertelli M, Alushi B, Veicsteinas A, Jinnah HA, Micheli V. Bertelli M, et al. J Clin Neurosci. 2009 Aug;16(8):1061-3. doi: 10.1016/j.jocn.2008.12.011. Epub 2009 May 26. J Clin Neurosci. 2009. PMID: 19473847 Free PMC article.

5

Neurological disorders of purine and pyrimidine metabolism.

Micheli V, Camici M, Tozzi MG, Ipata PL, Sestini S, Bertelli M, Pompucci G. Micheli V, et al. Among authors: bertelli m. Curr Top Med Chem. 2011;11(8):923-47. doi: 10.2174/156802611795347645. Curr Top Med Chem. 2011. PMID: 21401501 Review.

6

Adenine phosphoribosyltransferase (APRT) deficiency: a new genetic mutation with early recurrent renal stone disease in kidney transplantation.

Micheli V, Massarino F, Jacomelli G, Bertelli M, Corradi MR, Guerrini A, Cucchiara A, Ravetti JL, Negretti L, Cannella G. Micheli V, et al. Among authors: bertelli m. NDT Plus. 2010 Oct;3(5):436-8. doi: 10.1093/ndtplus/sfq096. Epub 2010 Jun 2. NDT Plus. 2010. PMID: 25984046 Free PMC article.

7

NAD metabolism in HPRT-deficient mice.

Micheli V, Jacomelli G, Di Marcello F, Notarantonio L, Sestini S, Cerboni B, Bertelli M, Pompucci G, Jinnah HA. Micheli V, et al. Among authors: bertelli m. Metab Brain Dis. 2009 Jun;24(2):311-9. doi: 10.1007/s11011-009-9134-9. Epub 2009 Mar 25. Metab Brain Dis. 2009. PMID: 19319672 Free PMC article.

8

Real-time PCR and linkage studies to identify carriers presenting HPRT deleted gene.

Lapucci C, Montin DP, Pandolfo M, Bertelli M. Lapucci C, et al. Among authors: bertelli m. Mol Med. 2006 Sep-Oct;12(9-10):246-51. doi: 10.2119/2005-00046.Lapucci. Mol Med. 2006. PMID: 17225873 Free PMC article.

9

A real-time PCR approach to evaluate adipogenic potential of amniotic fluid-derived human mesenchymal stem cells.

De Gemmis P, Lapucci C, Bertelli M, Tognetto A, Fanin E, Vettor R, Pagano C, Pandolfo M, Fabbri A. De Gemmis P, et al. Among authors: bertelli m. Stem Cells Dev. 2006 Oct;15(5):719-28. doi: 10.1089/scd.2006.15.719. Stem Cells Dev. 2006. PMID: 17105407

10

Quantification of chloride channel 2 (CLCN2) gene isoforms in normal versus lesion- and epilepsy-associated brain tissue.

Bertelli M, Cecchin S, Lapucci C, de Gemmis P, Danieli D, d'Amore ES, Buttolo L, Giunta F, Mortini P, Pandolfo M. Bertelli M, et al. Biochim Biophys Acta. 2007 Jan;1772(1):15-20. doi: 10.1016/j.bbadis.2006.10.015. Epub 2006 Nov 1. Biochim Biophys Acta. 2007. PMID: 17156979 Free article.

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