Beccari T - Search Results

1

Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies.

Parnetti L, Balducci C, Pierguidi L, De Carlo C, Peducci M, D'Amore C, Padiglioni C, Mastrocola S, Persichetti E, Paciotti S, Bellomo G, Tambasco N, Rossi A, Beccari T, Calabresi P. Parnetti L, et al. Among authors: beccari t. Neurobiol Dis. 2009 Jun;34(3):484-6. doi: 10.1016/j.nbd.2009.03.002. Epub 2009 Mar 20. Neurobiol Dis. 2009. PMID: 19303930

2

Elevated beta-N-acetylhexosaminidase activity in focal dystonia fibroblasts.

Costanzi E, Beccari T, Tassi C, Orlacchio A, Rossi A. Costanzi E, et al. Among authors: beccari t. Clin Chim Acta. 1999 Oct;288(1-2):31-5. doi: 10.1016/s0009-8981(99)00133-3. Clin Chim Acta. 1999. PMID: 10529455

3

Promoter characterization and expression of the gene coding for the human GM2 activator protein.

Beccari T, Balducci C, Aisa MC, Della Fazia MA, Servillo G, Orlacchio A. Beccari T, et al. Biosci Rep. 2001 Feb;21(1):55-62. doi: 10.1023/a:1010434101610. Biosci Rep. 2001. PMID: 11508694

4

Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.

Sbaragli M, Bibi L, Pittis MG, Balducci C, Heikinheimo P, Ricci R, Antuzzi D, Parini R, Spaccini L, Bembi B, Beccari T. Sbaragli M, et al. Among authors: beccari t. Hum Mutat. 2005 Mar;25(3):320. doi: 10.1002/humu.9310. Hum Mutat. 2005. PMID: 15712269

5

Cloning and expression of mouse cytosolic alpha-mannosidase (Man2c1).

Costanzi E, Balducci C, Cacan R, Duvet S, Orlacchio A, Beccari T. Costanzi E, et al. Among authors: beccari t. Biochim Biophys Acta. 2006 Oct;1760(10):1580-6. doi: 10.1016/j.bbagen.2006.06.011. Epub 2006 Jul 8. Biochim Biophys Acta. 2006. PMID: 16904268

6

Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis.

Pittis MG, Montalvo AL, Heikinheimo P, Sbaragli M, Balducci C, Persichetti E, Van Maldergem L, Filocamo M, Bembi B, Beccari T. Pittis MG, et al. Among authors: beccari t. Clin Chim Acta. 2007 Jan;375(1-2):136-9. doi: 10.1016/j.cca.2006.06.034. Epub 2006 Jul 6. Clin Chim Acta. 2007. PMID: 16919251

7

Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease.

Balducci C, Pierguidi L, Persichetti E, Parnetti L, Sbaragli M, Tassi C, Orlacchio A, Calabresi P, Beccari T, Rossi A. Balducci C, et al. Among authors: beccari t. Mov Disord. 2007 Jul 30;22(10):1481-1484. doi: 10.1002/mds.21399. Mov Disord. 2007. PMID: 17546678

8

Molecular cloning and structural organization of the gene encoding the mouse lysosomal di-N-acetylchitobiase (ctbs).

Balducci C, Bibi L, Berg T, Persichetti E, Tiribuzi R, Martino S, Paciotti S, Roberti R, Orlacchio A, Beccari T. Balducci C, et al. Among authors: beccari t. Gene. 2008 Jun 15;416(1-2):85-91. doi: 10.1016/j.gene.2008.03.009. Epub 2008 Mar 25. Gene. 2008. PMID: 18440730

9

Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations.

Riise Stensland HMF, Persichetti E, Sorriso C, Hansen GM, Bibi L, Paciotti S, Balducci C, Beccari T. Riise Stensland HMF, et al. Among authors: beccari t. Mol Genet Metab. 2008 Aug;94(4):476-480. doi: 10.1016/j.ymgme.2008.04.010. Epub 2008 Jun 18. Mol Genet Metab. 2008. PMID: 18565776

10

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.

Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T. Persichetti E, et al. Among authors: beccari t. Hum Mutat. 2009 Jun;30(6):978-84. doi: 10.1002/humu.20959. Hum Mutat. 2009. PMID: 19370764

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