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Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.
Bugiani O, Giaccone G, Rossi G, Mangieri M, Capobianco R, Morbin M, Mazzoleni G, Cupidi C, Marcon G, Giovagnoli A, Bizzi A, Di Fede G, Puoti G, Carella F, Salmaggi A, Romorini A, Patruno GM, Magoni M, Padovani A, Tagliavini F. Bugiani O, et al. Among authors: marcon g. Arch Neurol. 2010 Aug;67(8):987-95. doi: 10.1001/archneurol.2010.178. Arch Neurol. 2010. PMID: 20697050
PEN-2 gene mutation in a familial Alzheimer's disease case.
Sala Frigerio C, Piscopo P, Calabrese E, Crestini A, Malvezzi Campeggi L, Civita di Fava R, Fogliarino S, Albani D, Marcon G, Cherchi R, Piras R, Forloni G, Confaloni A. Sala Frigerio C, et al. Among authors: marcon g. J Neurol. 2005 Sep;252(9):1033-6. doi: 10.1007/s00415-005-0799-7. Epub 2005 Mar 16. J Neurol. 2005. PMID: 16170650
Expression pattern of perilipins in human brain during aging and in Alzheimer's disease.
Conte M, Medici V, Malagoli D, Chiariello A, Cirrincione A, Davin A, Chikhladze M, Vasuri F, Legname G, Ferrer I, Vanni S, Marcon G, Poloni TE, Guaita A, Franceschi C, Salvioli S. Conte M, et al. Among authors: marcon g. Neuropathol Appl Neurobiol. 2022 Feb;48(1):e12756. doi: 10.1111/nan.12756. Epub 2021 Aug 5. Neuropathol Appl Neurobiol. 2022. PMID: 34312912 Free PMC article.
Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.
Sherrington R, Froelich S, Sorbi S, Campion D, Chi H, Rogaeva EA, Levesque G, Rogaev EI, Lin C, Liang Y, Ikeda M, Mar L, Brice A, Agid Y, Percy ME, Clerget-Darpoux F, Piacentini S, Marcon G, Nacmias B, Amaducci L, Frebourg T, Lannfelt L, Rommens JM, St George-Hyslop PH. Sherrington R, et al. Among authors: marcon g. Hum Mol Genet. 1996 Jul;5(7):985-8. doi: 10.1093/hmg/5.7.985. Hum Mol Genet. 1996. PMID: 8817335
133 results