Bembi B - 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. Among authors: bembi b. 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. Among authors: bembi b. 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 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: bembi b. Hum Mutat. 2005 Sep;26(3):282. doi: 10.1002/humu.9363. Hum Mutat. 2005. PMID: 16088929

4

Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.

Zampieri S, Filocamo M, Buratti E, Stroppiano M, Vlahovicek K, Rosso N, Bignulin E, Regis S, Carnevale F, Bembi B, Dardis A. Zampieri S, et al. Among authors: bembi b. Neurogenetics. 2009 Feb;10(1):49-58. doi: 10.1007/s10048-008-0145-1. Epub 2008 Aug 29. Neurogenetics. 2009. PMID: 18758829

5

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. Among authors: bembi b. Hum Mutat. 2010 Apr;31(4):E1261-85. doi: 10.1002/humu.21208. Hum Mutat. 2010. PMID: 20104590

6

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: bembi b. Hum Mutat. 2010 Dec;31(12):E1894-914. doi: 10.1002/humu.21367. Hum Mutat. 2010. PMID: 20886637 Free PMC article.

7

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.

Montalvo AL, Bembi B, Donnarumma M, Filocamo M, Parenti G, Rossi M, Merlini L, Buratti E, De Filippi P, Dardis A, Stroppiano M, Ciana G, Pittis MG. Montalvo AL, et al. Among authors: bembi b. Hum Mutat. 2006 Oct;27(10):999-1006. doi: 10.1002/humu.20374. Hum Mutat. 2006. PMID: 16917947

8

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.

Pittis MG, Donnarumma M, Montalvo AL, Dominissini S, Kroos M, Rosano C, Stroppiano M, Bianco MG, Donati MA, Parenti G, D'Amico A, Ciana G, Di Rocco M, Reuser A, Bembi B, Filocamo M. Pittis MG, et al. Among authors: bembi b. Hum Mutat. 2008 Jun;29(6):E27-36. doi: 10.1002/humu.20753. Hum Mutat. 2008. PMID: 18429042

9

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

Miocić S, Filocamo M, Dominissini S, Montalvo AL, Vlahovicek K, Deganuto M, Mazzotti R, Cariati R, Bembi B, Pittis MG. Miocić S, et al. Among authors: bembi b. Hum Mutat. 2005 Jan;25(1):100. doi: 10.1002/humu.9301. Hum Mutat. 2005. PMID: 15605411

10

Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.

Pittis MG, Ricci V, Guerci VI, Marçais C, Ciana G, Dardis A, Gerin F, Stroppiano M, Vanier MT, Filocamo M, Bembi B. Pittis MG, et al. Among authors: bembi b. Hum Mutat. 2004 Aug;24(2):186-7. doi: 10.1002/humu.9263. Hum Mutat. 2004. PMID: 15241805

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