Di Natale P - Search Results

1

A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency.

Pisani A, Visciano B, Russo R, Mozzillo GR, Porto C, De Maggio I, Russo R, Pontarelli G, Villani GR, Cianciaruso B, Di Natale P. Pisani A, et al. Among authors: di natale p. J Nephrol. 2012 Jul-Aug;25(4):582-5. doi: 10.5301/jn.5000073. J Nephrol. 2012. PMID: 22307442

2

Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient.

Villani GR, Grosso M, Pontarelli G, Chierchia A, Sessa R, Sibilio M, Parenti G, Di Natale P. Villani GR, et al. Among authors: di natale p. Genet Test Mol Biomarkers. 2010 Feb;14(1):113-20. doi: 10.1089/gtmb.2009.0138. Genet Test Mol Biomarkers. 2010. PMID: 20143913

3

Gene symbol: NAGLU. Disease: Sanfillipo syndrome B.

Villani GR, Pontarelli G, Vitale D, Di Natale P. Villani GR, et al. Among authors: di natale p. Hum Genet. 2004 Jul;115(2):173. Hum Genet. 2004. PMID: 15300983 No abstract available.

4

Analysis of Sanfilippo A gene mutations in a large pedigree.

Di Natale P, Villani GR, Di Domenico C, Daniele A, Dionisi Vici C, Bartuli A. Di Natale P, et al. Among authors: di domenico c. Clin Genet. 2003 Apr;63(4):314-8. doi: 10.1034/j.1399-0004.2003.00053.x. Clin Genet. 2003. PMID: 12702166

5

Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA.

Di Natale P, Pontarelli G, Villani GR, Di Domenico C. Di Natale P, et al. Among authors: di domenico c. Hum Genet. 2006 Jul;119(6):679. Hum Genet. 2006. PMID: 17128482 No abstract available.

6

Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.

Di Natale P, Balzano N, Esposito S, Villani GR. Di Natale P, et al. Hum Mutat. 1998;11(4):313-20. doi: 10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P. Hum Mutat. 1998. PMID: 9554748

7

In vitro gene therapy of mucopolysaccharidosis type I by lentiviral vectors.

Di Natale P, Di Domenico C, Villani GR, Lombardo A, Follenzi A, Naldini L. Di Natale P, et al. Among authors: di domenico c. Eur J Biochem. 2002 Jun;269(11):2764-71. doi: 10.1046/j.1432-1033.2002.02951.x. Eur J Biochem. 2002. PMID: 12047386 Free article.

8

An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.

Gabrielli O, Coppa GV, Bruni S, Villani GR, Pontarelli G, Di Natale P. Gabrielli O, et al. Among authors: di natale p. Am J Med Genet A. 2005 Feb 15;133A(1):85-9. doi: 10.1002/ajmg.a.30552. Am J Med Genet A. 2005. PMID: 15637719

9

Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector.

Di Domenico C, Villani GR, Di Napoli D, Reyero EG, Lombardo A, Naldini L, Di Natale P. Di Domenico C, et al. Among authors: di napoli d, di natale p. Hum Gene Ther. 2005 Jan;16(1):81-90. doi: 10.1089/hum.2005.16.81. Hum Gene Ther. 2005. PMID: 15703491

10

Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease.

Di Natale P, Villani GR, Parini R, Scarpa M, Parenti G, Pontarelli G, Grosso M, Sersale G, Tomanin R, Sibilio M, Barone R, Fiumara A. Di Natale P, et al. Biotechnol Appl Biochem. 2008 Mar;49(Pt 3):219-23. doi: 10.1042/BA20070093. Biotechnol Appl Biochem. 2008. PMID: 17672828 Clinical Trial.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

101 results

Search Page