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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: colao r. 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: colao r. 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. Among authors: colao r. 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: colao r. Arch Neurol. 2012 Dec;69(12):1583-90. doi: 10.1001/archneurol.2012.2016. Arch Neurol. 2012. PMID: 22964832 Free PMC article.
Novel N-terminal domain mutation in prion protein detected in 2 patients diagnosed with frontotemporal lobar degeneration syndrome.
Bernardi L, Cupidi C, Frangipane F, Anfossi M, Gallo M, Conidi ME, Vasso F, Colao R, Puccio G, Curcio SAM, Mirabelli M, Clodomiro A, Di Lorenzo R, Smirne N, Maletta R, Bruni AC. Bernardi L, et al. Among authors: colao r. Neurobiol Aging. 2014 Nov;35(11):2657.e7-2657.e11. doi: 10.1016/j.neurobiolaging.2014.06.006. Epub 2014 Jun 14. Neurobiol Aging. 2014. PMID: 25022973
Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family.
Conidi ME, Bernardi L, Puccio G, Smirne N, Muraca MG, Curcio SA, Colao R, Piscopo P, Gallo M, Anfossi M, Frangipane F, Clodomiro A, Mirabelli M, Vasso F, Cupidi C, Torchia G, Di Lorenzo R, Mandich P, Confaloni A, Maletta RG, Bruni AC. Conidi ME, et al. Among authors: colao r. Neurology. 2015 Jun 2;84(22):2266-73. doi: 10.1212/WNL.0000000000001648. Epub 2015 May 6. Neurology. 2015. PMID: 25948718 Free PMC article.
Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.
Bocchetta M, Mega A, Bernardi L, Di Maria E, Benussi L, Binetti G, Borroni B, Colao R, Di Fede G, Fostinelli S, Galimberti D, Gennarelli M, Ghidoni R, Piaceri I, Pievani M, Porteri C, Redaelli V, Rossi G, Suardi S, Babiloni C, Scarpini E, Tagliavini F, Padovani A, Nacmias B, Sorbi S, Frisoni GB, Bruni AC; SINdem Collaborators. Bocchetta M, et al. Among authors: colao r. J Alzheimers Dis. 2016;51(1):277-91. doi: 10.3233/JAD-150849. J Alzheimers Dis. 2016. PMID: 26901402 Free article.
49 results