Parini R - Search Results

1

Closed Meningo(encephalo)cele: a new feature in Hunter syndrome.

Manara R, Priante E, Grimaldi M, Santoro L, Polonara G, Parini R, Scarpa M; Italian MPS Neuroimaging Study Group. Manara R, et al. Among authors: parini r. AJNR Am J Neuroradiol. 2012 May;33(5):873-7. doi: 10.3174/ajnr.A2867. Epub 2011 Dec 22. AJNR Am J Neuroradiol. 2012. PMID: 22194384 Free PMC article.

2

Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.

Lualdi S, Pittis MG, Regis S, Parini R, Allegri AE, Furlan F, Bembi B, Filocamo M. Lualdi S, et al. Among authors: parini r. J Mol Med (Berl). 2006 Aug;84(8):692-700. doi: 10.1007/s00109-006-0057-1. Epub 2006 May 13. J Mol Med (Berl). 2006. PMID: 16699754

3

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. Among authors: parini r. Biotechnol Appl Biochem. 2008 Mar;49(Pt 3):219-23. doi: 10.1042/BA20070093. Biotechnol Appl Biochem. 2008. PMID: 17672828 Clinical Trial.

4

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.

Parini R, Furlan F, Notarangelo L, Spinazzola A, Uziel G, Strisciuglio P, Concolino D, Corbetta C, Nebbia G, Menni F, Rossi G, Maggioni M, Zeviani M. Parini R, et al. J Hepatol. 2009 Jan;50(1):215-21. doi: 10.1016/j.jhep.2008.08.019. Epub 2008 Oct 31. J Hepatol. 2009. PMID: 19012992 Free article.

5

Mucopolysaccharidosis VI: the Italian experience.

Scarpa M, Barone R, Fiumara A, Astarita L, Parenti G, Rampazzo A, Sala S, Sorge G, Parini R. Scarpa M, et al. Among authors: parini r. Eur J Pediatr. 2009 Oct;168(10):1203-6. doi: 10.1007/s00431-008-0910-z. Epub 2009 Jan 7. Eur J Pediatr. 2009. PMID: 19130082

6

Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.

Zanetti A, Ferraresi E, Picci L, Filocamo M, Parini R, Rosano C, Tomanin R, Scarpa M. Zanetti A, et al. Among authors: parini r. Eur J Hum Genet. 2009 Sep;17(9):1160-4. doi: 10.1038/ejhg.2009.19. Epub 2009 Mar 4. Eur J Hum Genet. 2009. PMID: 19259130 Free PMC article.

7

Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).

Jones SA, Almássy Z, Beck M, Burt K, Clarke JT, Giugliani R, Hendriksz C, Kroepfl T, Lavery L, Lin SP, Malm G, Ramaswami U, Tincheva R, Wraith JE; HOS Investigators. Jones SA, et al. J Inherit Metab Dis. 2009 Aug;32(4):534-43. doi: 10.1007/s10545-009-1119-7. Epub 2009 Jul 14. J Inherit Metab Dis. 2009. PMID: 19597960

8

Intravenous enzyme replacement therapy: hospital vs home.

Parini R, Pozzi K, Di Mauro S, Furlan F, Rigoldi M. Parini R, et al. Br J Nurs. 2010 Jul 22-Aug 11;19(14):892-4, 896-8. doi: 10.12968/bjon.2010.19.14.49047. Br J Nurs. 2010. PMID: 20647981

9

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.

Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R; Hunter Outcome Survey Investigators. Mendelsohn NJ, et al. Among authors: parini r. Genet Med. 2010 Dec;12(12):816-22. doi: 10.1097/GIM.0b013e3181f6e74d. Genet Med. 2010. PMID: 21045710 Free article.

10

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

Bertola F, Filocamo M, Casati G, Mort M, Rosano C, Tylki-Szymanska A, Tüysüz B, Gabrielli O, Grossi S, Scarpa M, Parenti G, Antuzzi D, Dalmau J, Di Rocco M, Dionisi Vici C, Okur I, Rosell J, Rovelli A, Furlan F, Rigoldi M, Biondi A, Cooper DN, Parini R. Bertola F, et al. Among authors: parini r. Hum Mutat. 2011 Jun;32(6):E2189-210. doi: 10.1002/humu.21479. Epub 2011 Mar 10. Hum Mutat. 2011. PMID: 21394825

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