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10. A novel mutation in the predicted TMIII domain of the PSEN2 gene in an Italian pedigree with atypical Alzheimer's disease. Piscopo P; Talarico G; Crestini A; Gasparini M; Malvezzi-Campeggi L; Piacentini E; Lenzi GL; Bruno G; Confaloni A J Alzheimers Dis; 2010; 20(1):43-7. PubMed ID: 20164579 [TBL] [Abstract][Full Text] [Related]
11. Genetic study of Sardinian patients with Alzheimer's disease. Piscopo P; Manfredi A; Malvezzi-Campeggi L; Crestini A; Spadoni O; Cherchi R; Deiana E; Piras MR; Confaloni A Neurosci Lett; 2006 May; 398(1-2):124-8. PubMed ID: 16423463 [TBL] [Abstract][Full Text] [Related]
12. Evidence For and Against a Pathogenic Role of Reduced γ-Secretase Activity in Familial Alzheimer's Disease. Jayne T; Newman M; Verdile G; Sutherland G; Münch G; Musgrave I; Moussavi Nik SH; Lardelli M J Alzheimers Dis; 2016 Apr; 52(3):781-99. PubMed ID: 27060961 [TBL] [Abstract][Full Text] [Related]
13. [Study on mutation of presenilin-1 gene in familial Alzheimer's disease]. Liu XY; Yin LD; Duan Y; Wang YM; Chen BW; Wang Y Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Oct; 21(5):455-8. PubMed ID: 15476169 [TBL] [Abstract][Full Text] [Related]
15. Pathological activity of familial Alzheimer's disease-associated mutant presenilin can be executed by six different gamma-secretase complexes. Shirotani K; Tomioka M; Kremmer E; Haass C; Steiner H Neurobiol Dis; 2007 Jul; 27(1):102-7. PubMed ID: 17560791 [TBL] [Abstract][Full Text] [Related]
16. FAD mutants unable to increase neurotoxic Abeta 42 suggest that mutation effects on neurodegeneration may be independent of effects on Abeta. Shioi J; Georgakopoulos A; Mehta P; Kouchi Z; Litterst CM; Baki L; Robakis NK J Neurochem; 2007 May; 101(3):674-81. PubMed ID: 17254019 [TBL] [Abstract][Full Text] [Related]
17. A new presenilin Alzheimer's disease case confirms the helical alignment of pathogenic mutations in transmembrane domain 5. Coleman P; Kurlan R; Crook R; Werner J; Hardy J Neurosci Lett; 2004 Jul; 364(3):139-40. PubMed ID: 15196662 [TBL] [Abstract][Full Text] [Related]
18. Highly pathogenic Alzheimer's disease presenilin 1 P117R mutation causes a specific increase in p53 and p21 protein levels and cell cycle dysregulation in human lymphocytes. Bialopiotrowicz E; Szybinska A; Kuzniewska B; Buizza L; Uberti D; Kuznicki J; Wojda U J Alzheimers Dis; 2012; 32(2):397-415. PubMed ID: 22810102 [TBL] [Abstract][Full Text] [Related]
19. Increase in presenilin 1 (PS1) levels in senescence-accelerated mice (SAMP8) may indirectly impair memory by affecting amyloid precursor protein (APP) processing. Kumar VB; Franko M; Banks WA; Kasinadhuni P; Farr SA; Vyas K; Choudhuri V; Morley JE J Exp Biol; 2009 Feb; 212(Pt 4):494-8. PubMed ID: 19181896 [TBL] [Abstract][Full Text] [Related]
20. Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40. Kumar-Singh S; Theuns J; Van Broeck B; Pirici D; Vennekens K; Corsmit E; Cruts M; Dermaut B; Wang R; Van Broeckhoven C Hum Mutat; 2006 Jul; 27(7):686-95. PubMed ID: 16752394 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]