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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: codini m. 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
Lysosomal alpha-mannosidase and alpha-mannosidosis.
Paciotti S, Codini M, Tasegian A, Ceccarini MR, Cataldi S, Arcuri C, Fioretti B, Albi E, Beccari T. Paciotti S, et al. Among authors: codini m. Front Biosci (Landmark Ed). 2017 Jan 1;22(1):157-167. doi: 10.2741/4478. Front Biosci (Landmark Ed). 2017. PMID: 27814608 Free article. Review.
Origin of α-mannosidase activity in CSF.
Tasegian A, Paciotti S, Ceccarini MR, Codini M, Moors T, Chiasserini D, Albi E, Winchester B, van de Berg WDJ, Parnetti L, Beccari T. Tasegian A, et al. Among authors: codini m. Int J Biochem Cell Biol. 2017 Jun;87:34-37. doi: 10.1016/j.biocel.2017.03.016. Epub 2017 Mar 27. Int J Biochem Cell Biol. 2017. PMID: 28359775
Alpha-Mannosidosis: Therapeutic Strategies.
Ceccarini MR, Codini M, Conte C, Patria F, Cataldi S, Bertelli M, Albi E, Beccari T. Ceccarini MR, et al. Among authors: codini m. Int J Mol Sci. 2018 May 17;19(5):1500. doi: 10.3390/ijms19051500. Int J Mol Sci. 2018. PMID: 29772816 Free PMC article. Review.
93 results