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Hurler disease bone marrow stromal cells exhibit altered ability to support osteoclast formation.
Gatto F, Redaelli D, Salvadè A, Marzorati S, Sacchetti B, Ferina C, Roobrouck VD, Bertola F, Romano M, Villani G, Antolini L, Rovelli A, Verfaillie CM, Biondi A, Riminucci M, Bianco P, Serafini M. Gatto F, et al. Among authors: bertola f. Stem Cells Dev. 2012 Jun 10;21(9):1466-77. doi: 10.1089/scd.2011.0555. Epub 2012 Mar 2. Stem Cells Dev. 2012. PMID: 22280094 Clinical Trial.
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
Bertola F, Filocamo M, Casati G, Mort M, Rosano C, Tylki-Szymanska A, Tüysüz B, Gabrielli O, Grossi S, Scarpa M, Parenti G, Antuzzi D, Dalmau J, Di Rocco M, Dionisi Vici C, Okur I, Rosell J, Rovelli A, Furlan F, Rigoldi M, Biondi A, Cooper DN, Parini R. Bertola F, et al. Hum Mutat. 2011 Jun;32(6):E2189-210. doi: 10.1002/humu.21479. Epub 2011 Mar 10. Hum Mutat. 2011. PMID: 21394825
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Zanetti A, D'Avanzo F, Rigon L, Rampazzo A, Concolino D, Barone R, Volpi N, Santoro L, Lualdi S, Bertola F, Scarpa M, Tomanin R. Zanetti A, et al. Among authors: bertola f. Eur J Pediatr. 2019 May;178(5):739-753. doi: 10.1007/s00431-019-03341-8. Epub 2019 Feb 26. Eur J Pediatr. 2019. PMID: 30809705 Free PMC article. Clinical Trial.
Higher than expected progranulin mutation rate in a case series of Italian FTLD patients.
Tremolizzo L, Gelosa G, Galbussera A, Isella V, Arosio C, Bertola F, Casati G, Piperno A, Ferrarese C, Appollonio I. Tremolizzo L, et al. Among authors: bertola f. Alzheimer Dis Assoc Disord. 2009 Jul-Sep;23(3):301. doi: 10.1097/WAD.0b013e31819e0cc5. Alzheimer Dis Assoc Disord. 2009. PMID: 19730171 No abstract available.
35 results