| 1 | AD4, PSEN2
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| Evidence for three loci modifying age-at-onset of Alzheimer's disease in early-onset PSEN2 families.
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| Marchani EE, Bird TD, Steinbart EJ, Rosenthal E, Yu CE, Schellenberg GD, Wijsman EM.
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| Am J Med Genet B Neuropsychiatr Genet 153B(5):1031-41.PMID: 20333730 2010
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| 2 | AD1, AD10, AD15, AD16, AD17, AD18, AD19, AD2, AD22, AD23, AD24, AD25, AD3, AD4, AD5, AD6, AD7, AD8, AD9
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| Genome-wide association studies in Alzheimer's disease.
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| Bertram L, Tanzi RE.
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| Hum Mol Genet 18(R2):R137-45. 2009
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| 3 | AD1, AD2, AD24, AD3, AD4, APOE, APP, PSEN1, PSEN2
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| Genome-wide association studies in Alzheimer disease.
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| Waring SC, Rosenberg RN.
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| Arch Neurol 65(3):329-34. Review. 2008
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| 4 | AD4, PSEN2
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| A novel PSEN2 mutation associated with a peculiar phenotype.
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| Piscopo P, Marcon G, Piras MR, Crestini A, Campeggi LM, Deiana E, Cherchi R, Tanda F, Deplano A, Vanacore N, Tagliavini F, Pocchiari M, Giaccone G, Confaloni A.
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| Neurology 70(17):1549-54.PMID: 18427071 2008
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| 5 | AD24, AD3, AD4, PSEN1, PSEN2
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| Presenilin mutations linked to familial Alzheimer's disease cause an imbalance in phosphatidylinositol 4,5-bisphosphate metabolism.
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| Landman N, Jeong SY, Shin SY, Voronov SV, Serban G, Kang MS, Park MK, Di Paolo G, Chung S, Kim TW.
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| Proc Natl Acad Sci U S A 103(51):19524-9. Epub 2006 Dec 8. 2006
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| 6 | AD1, AD2, AD3, AD4, AD5, AD6, AD9, PARK1, PARK11, PARK3, PARK4, PARK5, PARK6, PARK7, PARK8, PARK9, PRKN
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| Chasing genes in Alzheimer's and Parkinson's disease.
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| Bertoli-Avella AM, Oostra BA, Heutink P.
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| Hum Genet 114(5):413-38. Epub 2004 Mar 04. 2004
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| 7 | AD1, AD15, AD16, AD19, AD2, AD24, AD25, AD3, AD4, AD5, AD7, AD8, AD9
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| Defects in expression of genes related to synaptic vesicle trafficking in frontal cortex of Alzheimer's disease.
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| Yao PJ, Zhu M, Pyun EI, Brooks AI, Therianos S, Meyers VE, Coleman PD.
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| Neurobiol Dis 12(2):97-109. 2003
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| 8 | AD4, FHL2, PSEN2
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| Alzheimer's disease-associated presenilin 2 interacts with DRAL, an LIM-domain protein
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| Tanahashi H, Tabira T.
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| Hum Mol Genet 9(15):2281-9. 2000
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| 9 | AD3, AD4, PSEN1, PSEN2
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| A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2.
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| Yasuda M, et al.
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| Arch Neurol 56(1):65-9. 1999
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| 10 | PSEN2, AD4
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| A novel presenilin-2 splice variant in human Alzheimer's disease brain tissue.
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| Sato N, et al.
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| J Neurochem 72(6):2498-505. 1999
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| 11 | AD3, AD4, PSEN1, PSEN2
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| Presenilin mutations in Alzheimer's disease.
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| Cruts M, Van Broeckhoven C.
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| Hum Mutat 11(3):183-90. 1998
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| 12 | AD1, AD2, AD3, AD4, AD5
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| Alzheimer diseases : a model of gene mutations and susceptibility polymorphisms for complex psychiatric diseases.
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| Roses AD.
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| Am J Med Genet 81(1):49-57. 1998
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| 13 | AD4, PSEN2
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| Molecular dissection of domains in mutant presenilin 2 that mediate overproduction of amyloidogenic forms of amyloid beta peptides. Inability of truncated forms of PS2 with familial Alzheimer's disease mutation to increase secretion of Abeta42.
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| Tomita T, Tokuhiro S, Hashimoto T, Aiba K, Saido TC, Maruyama K, Iwatsubo T.
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| J Biol Chem 273 : 21153-21160. 1998
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| 14 | AD4, PSEN2
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| Monogenic determinants of familial Alzheimer's disease : presenilin-2 mutations.
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| Renbaum P, et al.
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| Cell Mol Life Sci 54 : 910-919. 1998
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| 15 | AD4, PSEN2
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| Alzheimer's disease-linked mutation of presenilin 2 (N141I-PS2) drastically lowers APPalpha secretion : control by the proteasome.
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| Marambaud P, et al.
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| Biochem Biophys Res Commun 252 : 134-138. 1998
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| 16 | AD3, AD4, PSEN1, PSEN2
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| Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.
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| Cruts M, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S, Sherrington R, Hutton M, Hardy J, St George-Hyslop PH, Hofman A, Van Broeckhoven C.
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| Hum Mol Genet 7(1):43-51 1998
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| 17 | AD4, PSEN2
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| The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue.
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| Tomita T, et al.
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| Proc Natl Acad Sci U S A 94 : 2025-2030. 1997
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| 18 | AD4, PSEN2
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| Assignment of Alzheimer's presenilin-2 (PS-2) gene to 1q42.1 by fluorescence in situ hybridization.
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| Takano T, et al.
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| Neurosci Lett 221 : 205-207. 1997
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| 19 | AD1,AD2,AD3,AD4,FTDP17,PSRP
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| Neurodegenerative diseases with cytoskeletal pathology: a biochemical classification.
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| Dickson DW.
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| Ann Neurol 42(4):541-4. 1997
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| 20 | AD3, AD4, PSEN1, PSEN2
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| Alzheimer-associated presenilins 1 and 2 : neuronal expression in brain and localization to intracellular membranes in mammalian cells.
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| Kovacs DM, et al.
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| Nat Med 2 : 224-229. 1996
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| 21 | PSEN2, AD4
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| Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene.
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| Levy-Lahad E, et al.
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| Genomics 34 : 198-204. 1996
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| 22 | PSEN2, AD4
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| Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.
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| Sherrington R, et al.
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| Hum Mol Genet 5 : 985-988. 1996
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| 23 | AD3, AD4, PSEN1, PSEN2
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| Missense mutations of the PS-1/S182 gene in German early-onset Alzheimer's disease patients.
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| Sandbrink R, et al.
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| Ann Neurol 40 : 265-266. 1996
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| 24 | AD4, PSEN2
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| Participation of presenilin 2 in apoptosis : enhanced basal activity conferred by an Alzheimer mutation.
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| Wolozin B, et al.
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| Science 274 : 1710-1713. 1996
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| 25 | AD4, PSEN1, PSEN2
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| Identification and expression analysis of a potential familial Alzheimer disease gene on chromosome 1 related to AD3.
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| Li J, et al.
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| Proc Natl Acad Sci U S A 92 : 12180-12184. 1995
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| 26 | AD4, PSEN2
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| A familial Alzheimer's disease locus on chromosome 1.
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| Levy-Lahad E, et al.
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| Science 269 : 970-973. 1995
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| 27 | AD4, PSEN2
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| Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.
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| Rogaev EI, et al.
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| Nature 376 : 775-778. 1995
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| 28 | AD4, PSEN2
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| Candidate gene for the chromosome 1 familial Alzheimer's disease locus.
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| Levy-Lahad E, et al.
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| Science 269 : 973-977. 1995
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