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Page 1
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sánchez-Valle R, Antonell A, Lladó A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimberti D,… See abstract for full author list ➔ Pottier C, et al. Among authors: fumagalli gg. Lancet Neurol. 2018 Jun;17(6):548-558. doi: 10.1016/S1474-4422(18)30126-1. Epub 2018 Apr 30. Lancet Neurol. 2018. PMID: 29724592 Free PMC article.
Progranulin gene variability increases the risk for primary progressive multiple sclerosis in males.
Fenoglio C, Scalabrini D, Esposito F, Comi C, Cavalla P, De Riz M, Martinelli V, Piccio LM, Venturelli E, Fumagalli G, Capra R, Collimedaglia L, Ghezzi A, Rodegher ME, Vercellino M, Leone M, Giordana MT, Bresolin N, Monaco F, Comi G, Scarpini E, Martinelli-Boneschi F, Galimberti D. Fenoglio C, et al. Genes Immun. 2010 Sep;11(6):497-503. doi: 10.1038/gene.2010.18. Epub 2010 May 13. Genes Immun. 2010. PMID: 20463744
Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?
Venturelli E, Villa C, Fenoglio C, Clerici F, Marcone A, Benussi L, Ghidoni R, Gallone S, Scalabrini D, Cortini F, Fumagalli G, Cappa S, Binetti G, Franceschi M, Rainero I, Giordana MT, Mariani C, Bresolin N, Scarpini E, Galimberti D. Venturelli E, et al. Neurosci Lett. 2010 Oct 4;482(3):240-4. doi: 10.1016/j.neulet.2010.07.047. Epub 2010 Jul 27. Neurosci Lett. 2010. PMID: 20670673
BAG1 is a protective factor for sporadic frontotemporal lobar degeneration but not for Alzheimer's disease.
Venturelli E, Villa C, Fenoglio C, Clerici F, Marcone A, Benussi L, Ghidoni R, Gallone S, Cortini F, Serpente M, Cantoni C, Fumagalli G, Ridolfi E, Cappa S, Binetti G, Franceschi M, Rainero I, Giordana MT, Mariani C, Bresolin N, Scarpini E, Galimberti D. Venturelli E, et al. J Alzheimers Dis. 2011;23(4):701-7. doi: 10.3233/JAD-2010-101416. J Alzheimers Dis. 2011. PMID: 21157029
Phenotypic heterogeneity of the GRN Asp22fs mutation in a large Italian kindred.
Pietroboni AM, Fumagalli GG, Ghezzi L, Fenoglio C, Cortini F, Serpente M, Cantoni C, Rotondo E, Corti P, Carecchio M, Bassi M, Bresolin N, Galbiati D, Galimberti D, Scarpini E. Pietroboni AM, et al. Among authors: fumagalli gg. J Alzheimers Dis. 2011;24(2):253-9. doi: 10.3233/JAD-2011-101704. J Alzheimers Dis. 2011. PMID: 21258152
Role of hnRNP-A1 and miR-590-3p in neuronal death: genetics and expression analysis in patients with Alzheimer disease and frontotemporal lobar degeneration.
Villa C, Fenoglio C, De Riz M, Clerici F, Marcone A, Benussi L, Ghidoni R, Gallone S, Cortini F, Serpente M, Cantoni C, Fumagalli G, Martinelli Boneschi F, Cappa S, Binetti G, Franceschi M, Rainero I, Giordana MT, Mariani C, Bresolin N, Scarpini E, Galimberti D. Villa C, et al. Rejuvenation Res. 2011 Jun;14(3):275-81. doi: 10.1089/rej.2010.1123. Epub 2011 May 6. Rejuvenation Res. 2011. PMID: 21548758
A novel MAPT mutation associated with the clinical phenotype of progressive nonfluent aphasia.
Villa C, Ghezzi L, Pietroboni AM, Fenoglio C, Cortini F, Serpente M, Cantoni C, Ridolfi E, Marcone A, Benussi L, Ghidoni R, Jacini F, Arighi A, Fumagalli GG, Mandelli A, Binetti G, Cappa S, Bresolin N, Scarpini E, Galimberti D. Villa C, et al. Among authors: fumagalli gg. J Alzheimers Dis. 2011;26(1):19-26. doi: 10.3233/JAD-2011-102124. J Alzheimers Dis. 2011. PMID: 21558644
Sciatic endometriosis presenting as periodic (catamenial) sciatic radiculopathy.
Ghezzi L, Arighi A, Pietroboni AM, Jacini F, Fumagalli GG, Esposito A, Bresolin N, Galimberti D, Scarpini E. Ghezzi L, et al. Among authors: fumagalli gg. J Neurol. 2012 Jul;259(7):1470-1. doi: 10.1007/s00415-011-6378-1. Epub 2012 Jan 4. J Neurol. 2012. PMID: 22215240 No abstract available.
174 results