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The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.
Xi Z, Zhang M, Bruni AC, Maletta RG, Colao R, Fratta P, Polke JM, Sweeney MG, Mudanohwo E, Nacmias B, Sorbi S, Tartaglia MC, Rainero I, Rubino E, Pinessi L, Galimberti D, Surace EI, McGoldrick P, McKeever P, Moreno D, Sato C, Liang Y, Keith J, Zinman L, Robertson J, Rogaeva E. Xi Z, et al. Among authors: maletta rg. Acta Neuropathol. 2015 May;129(5):715-27. doi: 10.1007/s00401-015-1401-8. Epub 2015 Feb 26. Acta Neuropathol. 2015. PMID: 25716178 Free article.
Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation.
Bruni AC, Momeni P, Bernardi L, Tomaino C, Frangipane F, Elder J, Kawarai T, Sato C, Pradella S, Wakutani Y, Anfossi M, Gallo M, Geracitano S, Costanzo A, Smirne N, Curcio SA, Mirabelli M, Puccio G, Colao R, Maletta RG, Kertesz A, St George-Hyslop P, Hardy J, Rogaeva E. Bruni AC, et al. Among authors: maletta rg. Neurology. 2007 Jul 10;69(2):140-7. doi: 10.1212/01.wnl.0000265220.64396.b4. Neurology. 2007. PMID: 17620546
Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.
Bernardi L, Frangipane F, Smirne N, Colao R, Puccio G, Curcio SA, Mirabelli M, Maletta R, Anfossi M, Gallo M, Geracitano S, Conidi ME, Di Lorenzo R, Clodomiro A, Cupidi C, Marzano S, Comito F, Valenti V, Zirilli MA, Ghani M, Xi Z, Sato C, Moreno D, Borelli A, Leone RA, St George-Hyslop P, Rogaeva E, Bruni AC. Bernardi L, et al. Neurobiol Aging. 2012 Dec;33(12):2948.e1-2948.e10. doi: 10.1016/j.neurobiolaging.2012.06.017. Epub 2012 Jul 20. Neurobiol Aging. 2012. PMID: 22819134 Free PMC article.
Investigation of c9orf72 in 4 neurodegenerative disorders.
Xi Z, Zinman L, Grinberg Y, Moreno D, Sato C, Bilbao JM, Ghani M, Hernández I, Ruiz A, Boada M, Morón FJ, Lang AE, Marras C, Bruni A, Colao R, Maletta RG, Puccio G, Rainero I, Pinessi L, Galimberti D, Morrison KE, Moorby C, Stockton JD, Masellis M, Black SE, Hazrati LN, Liang Y, van Haersma de With J, Fornazzari L, Villagra R, Rojas-Garcia R, Clarimón J, Mayeux R, Robertson J, St George-Hyslop P, Rogaeva E. Xi Z, et al. Among authors: maletta rg. Arch Neurol. 2012 Dec;69(12):1583-90. doi: 10.1001/archneurol.2012.2016. Arch Neurol. 2012. PMID: 22964832 Free PMC article.
Estimating the inheritance of frontotemporal lobar degeneration in the Italian population.
Borroni B, Grassi M, Bianchi M, Bruni AC, Maletta RG, Anfossi M, Pepe D, Cagnin A, Caffarra P, Cappa S, Clerici F, Daniele A, Frisoni GB, Galimberti D, Parnetti L, Perri R, Rainero I, Tremolizzo L, Turla M, Zanetti O, Padovani A. Borroni B, et al. Among authors: maletta rg. J Alzheimers Dis. 2014;41(2):371-6. doi: 10.3233/JAD-130128. J Alzheimers Dis. 2014. PMID: 23719513
Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients.
Xi Z, Rainero I, Rubino E, Pinessi L, Bruni AC, Maletta RG, Nacmias B, Sorbi S, Galimberti D, Surace EI, Zheng Y, Moreno D, Sato C, Liang Y, Zhou Y, Robertson J, Zinman L, Tartaglia MC, St George-Hyslop P, Rogaeva E. Xi Z, et al. Among authors: maletta rg. Hum Mol Genet. 2014 Nov 1;23(21):5630-7. doi: 10.1093/hmg/ddu279. Epub 2014 Jun 6. Hum Mol Genet. 2014. PMID: 24908669 Free article.
Frontotemporal dementia and its subtypes: a genome-wide association study.
Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Haan E, Hernández I, Ruiz A, Boada M, Borroni B, Padovani A, Cruchaga C, Cairns NJ, Benussi L, Binetti G, Ghidoni R, Forloni G, Galimberti D, Fenoglio C, Serpente M, Scarpini E, Clarimón J, Lleó A, Blesa R, Waldö ML, Nilsson K, Nilsson C, Mackenzie IR, Hsiung GY, Mann DM, Grafman J, Morris CM, Attems J, Griffiths TD, McKeith IG, Thomas AJ, Pietrini P, Huey ED, Wassermann EM, Baborie A, Jaros E, Tierney MC, Pastor P, Razquin C, Ortega-Cubero S, Alonso E, Perneczky R, Diehl-Schmid J, Alexopoulos P, Kurz A, Rainero I, Rubino E, Pinessi L, Rogaeva E, St George-Hyslop P, Rossi G, Tagliavini F, Giaccone G, Rowe JB, Schlachetzki JC, Uphill J, Collinge J, Mead S, Danek A, Van Deerlin VM, Grossman M, Trojanowski JQ, van der Zee J, Deschamps W, Van Langenhove T, Cruts M, Van Broeckhoven C, Cappa SF, Le Ber I, Hannequin D, Golfier V, Vercelletto M, Brice A, Nacmias B, Sorbi S, Bagnoli S, Piaceri I, Nielsen JE, Hjermind LE, Riemenschneider M, Mayhaus M, Ibach B, Gasparoni G, Pichler S, Gu W, Rossor MN, Fox NC, Warren JD, Spillanti… See abstract for full author list ➔ Ferrari R, et al. Lancet Neurol. 2014 Jul;13(7):686-99. doi: 10.1016/S1474-4422(14)70065-1. Lancet Neurol. 2014. PMID: 24943344 Free PMC article.
84 results