Pittis MG - Search Results

1

Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease.

Dardis A, Zampieri S, Filocamo M, Burlina A, Bembi B, Pittis MG. Dardis A, et al. Among authors: pittis mg. Hum Mutat. 2005 Aug;26(2):164. doi: 10.1002/humu.9353. Hum Mutat. 2005. PMID: 16010684

2

Comparative in vitro expression study of four Fabry disease causing mutations at glutamine 279 of the alpha-galactosidase A protein.

Dominissini S, Cariati R, Nevyjel M, Guerci V, Ciana G, Bembi B, Pittis MG. Dominissini S, et al. Among authors: pittis mg. Hum Hered. 2004;57(3):138-41. doi: 10.1159/000079244. Hum Hered. 2004. PMID: 15297807

3

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: pittis mg. Hum Mutat. 2005 Jan;25(1):100. doi: 10.1002/humu.9301. Hum Mutat. 2005. PMID: 15605411

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: pittis mg. Hum Mutat. 2005 Sep;26(3):282. doi: 10.1002/humu.9363. Hum Mutat. 2005. PMID: 16088929

5

Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays.

Dominissini S, Buratti E, Bembi B, Baralle M, Pittis MG. Dominissini S, et al. Among authors: pittis mg. Hum Mutat. 2006 Jan;27(1):119. doi: 10.1002/humu.9391. Hum Mutat. 2006. PMID: 16329099

6

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. Hum Mutat. 2004 Aug;24(2):186-7. doi: 10.1002/humu.9263. Hum Mutat. 2004. PMID: 15241805

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: pittis mg. 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. Hum Mutat. 2008 Jun;29(6):E27-36. doi: 10.1002/humu.20753. Hum Mutat. 2008. PMID: 18429042

9

Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.

Pittis MG, Montalvo AL, Miocic S, Martini C, Deganuto M, Candusso M, Ciana G, Bembi B. Pittis MG, et al. Am J Med Genet A. 2003 Sep 1;121A(3):225-30. doi: 10.1002/ajmg.a.20164. Am J Med Genet A. 2003. PMID: 12923862

10

Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.

Montalvo AL, Cariati R, Deganuto M, Guerci V, Garcia R, Ciana G, Bembi B, Pittis MG. Montalvo AL, et al. Among authors: pittis mg. Mol Genet Metab. 2004 Mar;81(3):203-8. doi: 10.1016/j.ymgme.2003.11.011. Mol Genet Metab. 2004. PMID: 14972326

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