Human Genome Epidemiology Literature Finder
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Records 1 - 4 (of 4 Records) |
| Query Trace: Syndrome and PSEN2[original query] |
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| A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease. Archives of neurology 2003 Aug 60 (8): 1149-51. Ezquerra Mario, Lleó Alberto, Castellví Magda, Queralt Rosa, Santacruz Pilar, Pastor Pau, Molinuevo José Luis, Blesa Rafael, Oliva Rafa |
| Evaluating pathogenic dementia variants in posterior cortical atrophy. Neurobiology of aging 2015 Oct . Carrasquillo Minerva M, Barber Imelda, Lincoln Sarah J, Murray Melissa E, Camsari Gamze Balci, Khan Qurat Ul Ain, Nguyen Thuy, Ma Li, Bisceglio Gina D, Crook Julia E, Younkin Steven G, Dickson Dennis W, Boeve Bradley F, Graff-Radford Neill R, Morgan Kevin, Ertekin-Taner Nilüf |
| Singular cases of Alzheimer's disease disclose new and old genetic "acquaintances". Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020 10 42 (5): 2021-2029. Coppola Cinzia, Saracino Dario, Oliva Mariano, Cipriano Lorenzo, Puoti Gianfranco, Pappatà Sabina, Di Fede Giuseppe, Catania Marcella, Ricci Martina, Cimini Sara, Giaccone Giorgio, Bonavita Simona, Rossi Giacomi |
| Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study. The Lancet. Neurology 2022 12 22 (1): 55-65. Boerwinkle Anna H, Gordon Brian A, Wisch Julie, Flores Shaney, Henson Rachel L, Butt Omar H, McKay Nicole, Chen Charles D, Benzinger Tammie L S, Fagan Anne M, Handen Benjamin L, Christian Bradley T, Head Elizabeth, Mapstone Mark, Rafii Michael S, O'Bryant Sid, Lai Florence, Rosas H Diana, Lee Joseph H, Silverman Wayne, Brickman Adam M, Chhatwal Jasmeer P, Cruchaga Carlos, Perrin Richard J, Xiong Chengjie, Hassenstab Jason, McDade Eric, Bateman Randall J, Ances Beau M, , |
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