Lualdi S - Search Results

1

Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms.

Lualdi S, Di Rocco M, Corsolini F, Spada M, Bembi B, Cotugno G, Battini R, Stroppiano M, Gabriela Pittis M, Filocamo M. Lualdi S, et al. Biochim Biophys Acta. 2006 Apr;1762(4):478-84. doi: 10.1016/j.bbadis.2006.01.003. Epub 2006 Feb 9. Biochim Biophys Acta. 2006. PMID: 16495038 Free 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. 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

Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method.

Lualdi S, Regis S, Di Rocco M, Corsolini F, Stroppiano M, Antuzzi D, Filocamo M. Lualdi S, et al. Hum Mutat. 2005 May;25(5):491-7. doi: 10.1002/humu.20165. Hum Mutat. 2005. PMID: 15832315

4

Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

Montalvo AL, Filocamo M, Vlahovicek K, Dardis A, Lualdi S, Corsolini F, Bembi B, Pittis MG. Montalvo AL, et al. Among authors: lualdi s. Hum Mutat. 2005 Sep;26(3):282. doi: 10.1002/humu.9363. Hum Mutat. 2005. PMID: 16088929

5

Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient.

Regis S, Lualdi S, Biffi A, Sessa M, Corsolini F, Parenti G, Filocamo M. Regis S, et al. Among authors: lualdi s. Mol Genet Metab. 2006 Sep-Oct;89(1-2):150-5. doi: 10.1016/j.ymgme.2006.03.016. Epub 2006 Jun 19. Mol Genet Metab. 2006. PMID: 16782379

6

Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome.

Lualdi S, Tappino B, Di Duca M, Dardis A, Anderson CJ, Biassoni R, Thompson PW, Corsolini F, Di Rocco M, Bembi B, Regis S, Cooper DN, Filocamo M. Lualdi S, et al. Hum Mutat. 2010 Apr;31(4):E1261-85. doi: 10.1002/humu.21208. Hum Mutat. 2010. PMID: 20104590

7

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.

Tappino B, Biancheri R, Mort M, Regis S, Corsolini F, Rossi A, Stroppiano M, Lualdi S, Fiumara A, Bembi B, Di Rocco M, Cooper DN, Filocamo M. Tappino B, et al. Among authors: lualdi s. Hum Mutat. 2010 Dec;31(12):E1894-914. doi: 10.1002/humu.21367. Hum Mutat. 2010. PMID: 20886637 Free PMC article.

8

In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs.

Lualdi S, Del Zotto G, Zegarra-Moran O, Pedemonte N, Corsolini F, Bruschi M, Tomati V, Amico G, Candiano G, Dardis A, Cooper DN, Filocamo M. Lualdi S, et al. Hum Mutat. 2017 Jul;38(7):849-862. doi: 10.1002/humu.23243. Epub 2017 May 22. Hum Mutat. 2017. PMID: 28477385

9

Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR.

Regis S, Grossi S, Lualdi S, Biancheri R, Filocamo M. Regis S, et al. Among authors: lualdi s. Neurogenetics. 2005 May;6(2):73-8. doi: 10.1007/s10048-005-0214-7. Epub 2005 Apr 13. Neurogenetics. 2005. PMID: 15827763

10

Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.

Grossi S, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A, Vaurs-Barrière C, Cooper DN, Filocamo M. Grossi S, et al. Among authors: lualdi s. Orphanet J Rare Dis. 2011 Jun 16;6:40. doi: 10.1186/1750-1172-6-40. Orphanet J Rare Dis. 2011. PMID: 21679407 Free PMC article.

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