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Association analysis of PARP1 polymorphisms with Parkinson's disease.
Brighina L, Riva C, Bertola F, Fermi S, Saracchi E, Piolti R, Goldwurm S, Pezzoli G, Ferrarese C. Brighina L, et al. Among authors: bertola f. Parkinsonism Relat Disord. 2011 Nov;17(9):701-4. doi: 10.1016/j.parkreldis.2011.06.022. Epub 2011 Jul 20. Parkinsonism Relat Disord. 2011. PMID: 21767974 Free PMC article.
First report of PSEN2 mutation presenting as posterior cortical atrophy.
Tremolizzo L, Susani E, Mapelli C, Isella V, Bertola F, Ferrarese C, Appollonio I. Tremolizzo L, et al. Among authors: bertola f. Alzheimer Dis Assoc Disord. 2015 Jul-Sep;29(3):249-51. doi: 10.1097/WAD.0000000000000052. Alzheimer Dis Assoc Disord. 2015. PMID: 25010293 No abstract available.
Forgetful and robotic: tap on a gene!
Tremolizzo L, Susani E, Binda D, Bertola F, Ferrarese C, Appollonio I. Tremolizzo L, et al. Among authors: bertola f. Neurol Sci. 2016 Jul;37(7):1185-7. doi: 10.1007/s10072-014-2059-z. Epub 2015 Jan 8. Neurol Sci. 2016. PMID: 25567082 No abstract available.
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.
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
36 results