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Cerebrospinal fluid lysosomal enzymes and alpha-synuclein in Parkinson's disease.
Parnetti L, Chiasserini D, Persichetti E, Eusebi P, Varghese S, Qureshi MM, Dardis A, Deganuto M, De Carlo C, Castrioto A, Balducci C, Paciotti S, Tambasco N, Bembi B, Bonanni L, Onofrj M, Rossi A, Beccari T, El-Agnaf O, Calabresi P. Parnetti L, et al. Among authors: balducci c. Mov Disord. 2014 Jul;29(8):1019-27. doi: 10.1002/mds.25772. Epub 2014 Jan 16. Mov Disord. 2014. PMID: 24436092 Free PMC article.
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: balducci c. 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
First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene.
Paciotti S, Persichetti E, Pagliardini S, Deganuto M, Rosano C, Balducci C, Codini M, Filocamo M, Menghini AR, Pagliardini V, Pasqui S, Bembi B, Dardis A, Beccari T. Paciotti S, et al. Among authors: balducci c. Clin Chim Acta. 2012 Nov 20;413(23-24):1827-31. doi: 10.1016/j.cca.2012.07.011. Epub 2012 Jul 20. Clin Chim Acta. 2012. PMID: 22820396
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: balducci c. Hum Mutat. 2009 Jun;30(6):978-84. doi: 10.1002/humu.20959. Hum Mutat. 2009. PMID: 19370764
Lysosomal di-N-acetylchitobiase-deficient mouse tissues accumulate Man2GlcNAc2 and Man3GlcNAc2.
Persichetti E, Klein K, Paciotti S, Lecointe K, Balducci C, Franken S, Duvet S, Matzner U, Roberti R, Hartmann D, Gieselmann V, Beccari T. Persichetti E, et al. Among authors: balducci c. Biochim Biophys Acta. 2012 Jul;1822(7):1137-46. doi: 10.1016/j.bbadis.2012.03.005. Epub 2012 Mar 20. Biochim Biophys Acta. 2012. PMID: 22465033 Free article.
249 results