Bembi B - 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: bembi b. Hum Mutat. 2005 Aug;26(2):164. doi: 10.1002/humu.9353. Hum Mutat. 2005. PMID: 16010684

2

A rare G6490-->A substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients.

Seri M, Filocamo M, Corsolini F, Bembi B, Barbera C, Gatti R. Seri M, et al. Among authors: bembi b. Clin Genet. 1995 Sep;48(3):123-7. doi: 10.1111/j.1399-0004.1995.tb04070.x. Clin Genet. 1995. PMID: 8556817

3

Treatment of patients with Niemann-Pick type is using repeated amniotic epithelial cells implantation: correction of aggregation and coagulation abnormalities.

Cerneca F, Andolina M, Simeone R, Boscolo R, Ciana G, Bembi B. Cerneca F, et al. Among authors: bembi b. Clin Pediatr (Phila). 1997 Mar;36(3):141-6. doi: 10.1177/000992289703600304. Clin Pediatr (Phila). 1997. PMID: 9078415

4

Gaucher's disease with Parkinson's disease: clinical and pathological aspects.

Bembi B, Zambito Marsala S, Sidransky E, Ciana G, Carrozzi M, Zorzon M, Martini C, Gioulis M, Pittis MG, Capus L. Bembi B, et al. Neurology. 2003 Jul 8;61(1):99-101. doi: 10.1212/01.wnl.0000072482.70963.d7. Neurology. 2003. PMID: 12847165

5

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. Among authors: bembi b. 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

6

Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II.

Bembi B, Ciana G, Martini C, Benettoni A, Gombacci A, Deganuto M, Pittis MG. Bembi B, et al. J Inherit Metab Dis. 2003;26(7):675-81. doi: 10.1023/b:boli.0000005618.76542.ed. J Inherit Metab Dis. 2003. PMID: 14707516

7

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: bembi b. Mol Genet Metab. 2004 Mar;81(3):203-8. doi: 10.1016/j.ymgme.2003.11.011. Mol Genet Metab. 2004. PMID: 14972326

8

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

9

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: bembi b. Hum Hered. 2004;57(3):138-41. doi: 10.1159/000079244. Hum Hered. 2004. PMID: 15297807

10

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

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