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Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia.
Bernardi L, Tomaino C, Anfossi M, Gallo M, Geracitano S, Costanzo A, Colao R, Puccio G, Frangipane F, Curcio SA, Mirabelli M, Smirne N, Iapaolo D, Maletta RG, Bruni AC. Bernardi L, et al. Among authors: mirabelli m. Neurobiol Aging. 2009 Nov;30(11):1825-33. doi: 10.1016/j.neurobiolaging.2008.01.005. Epub 2008 Mar 7. Neurobiol Aging. 2009. PMID: 18314228
A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features.
Gallo M, Marcello N, Curcio SA, Colao R, Geracitano S, Bernardi L, Anfossi M, Puccio G, Frangipane F, Clodomiro A, Mirabelli M, Vasso F, Smirne N, Muraca G, Di Lorenzo R, Maletta R, Ghidoni E, Bugiani O, Tagliavini F, Giaccone G, Bruni AC. Gallo M, et al. Among authors: mirabelli m. J Alzheimers Dis. 2011;25(3):425-31. doi: 10.3233/JAD-2011-110185. J Alzheimers Dis. 2011. PMID: 21422519
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: mirabelli m. Neurology. 2015 Jun 2;84(22):2266-73. doi: 10.1212/WNL.0000000000001648. Epub 2015 May 6. Neurology. 2015. PMID: 25948718 Free PMC article.
Role of Niemann-Pick Type C Disease Mutations in Dementia.
Cupidi C, Frangipane F, Gallo M, Clodomiro A, Colao R, Bernardi L, Anfossi M, Conidi ME, Vasso F, Curcio SA, Mirabelli M, Smirne N, Torchia G, Muraca MG, Puccio G, Di Lorenzo R, Zampieri S, Romanello M, Dardis A, Maletta RG, Bruni AC. Cupidi C, et al. Among authors: mirabelli m. J Alzheimers Dis. 2017;55(3):1249-1259. doi: 10.3233/JAD-160214. J Alzheimers Dis. 2017. PMID: 27792009
The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family.
Gallo M, Frangipane F, Cupidi C, De Bartolo M, Turone S, Ferrari C, Nacmias B, Grimaldi G, Laganà V, Colao R, Bernardi L, Anfossi M, Conidi ME, Vasso F, Curcio SAM, Mirabelli M, Smirne N, Torchia G, Muraca MG, Puccio G, Di Lorenzo R, Piccininni M, Tedde A, Maletta RG, Sorbi S, Bruni AC. Gallo M, et al. Among authors: mirabelli m. Neurobiol Aging. 2017 Aug;56:213.e7-213.e12. doi: 10.1016/j.neurobiolaging.2017.04.017. Epub 2017 Apr 27. Neurobiol Aging. 2017. PMID: 28532646
163 results