| 1 | AD3, PSEN1
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| Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database.
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| Ringman JM, Monsell S, Ng DW, Zhou Y, Nguyen A, Coppola G, Van Berlo V, Mendez MF, Tung S, Weintraub S, Mesulam MM, Bigio EH, Gitelman DR, Fisher-Hubbard AO, Albin RL, Vinters HV.
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| J Neuropathol Exp Neurol 75(3):284-90. doi: 10.1093/jnen/nlv028. Epub 2016 Feb 17.
2016
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| 2 | AD24, AD3, PSEN1
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| Cytoskeletal alterations differentiate presenilin-1 and sporadic Alzheimer's disease.
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| Woodhouse A, Shepherd CE, Sokolova A, Carroll VL, King AE, Halliday GM, Dickson TC, Vickers JC.
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| Acta Neuropathol 117(1):19-29. Epub 2008 Nov 18. 2009
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| 3 | 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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| 4 | 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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| 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, AD24, AD3, APP, PSEN1
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| Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.
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| Raux G, Guyant-Marechal L, Martin C, Bou J, Penet C, Brice A, Hannequin D, Frebourg T, Campion D.
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| J Med Genet 42(10):793-5. Epub 2005 Jul 20. 2005
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| 7 | 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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| 8 | 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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| 9 | AD24, AD3, PSEN1
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| Alzheimer-associated C allele of the promoter polymorphism -22C>T causes a critical neuron-specific decrease of presenilin 1 expression.
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| Theuns J, Remacle J, Killick R, Corsmit E, Vennekens K, Huylebroeck D, Cruts M, Van Broeckhoven C.
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| Hum Mol Genet 12(8):869-77. 2003
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| 10 | 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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| 11 | AD3, PSEN1
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| A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures.
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| Ezquerra M, et al.
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| Neurology 52(3):566-70. 1999
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| 12 | AD3, PSEN1
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| Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased abeta42 secretion.
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| Jonghe CD, et al.
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| Hum Mol Genet 8(8):1529-40. 1999
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| 13 | AD24, AD3, PSEN1
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| YAC fragmentation with repetitive and single-copy sequences: detailed physical mapping of the presenilin 1 gene on chromosome 14.
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| Del-Favero J, et al.
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| Gene 229(1-2):193-201. 1999
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| 14 | AD3, PSEN1, BCHE
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| Evaluation of polymorphisms in the presenilin-1 gene and the butyrylcholinesterase gene as risk factors in sporadic Alzheimer's disease.
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| Tilley L, et al.
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| Eur J Hum Genet 7(6):659-63 1999
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| 15 | AD3, PSEN1
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| Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample.
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| van Duijn CM, Cruts M, Theuns J, Van Gassen G, Backhovens H, van den Broeck M, Wehnert A, Serneels S, Hofman A, Van Broeckhoven C.
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| Eur J Hum Genet 7(7):801-6 1999
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| 16 | 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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| 17 | AD3, PSEN1
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| A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.
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| Tysoe C, Whittaker J, Xuereb J, Cairns NJ, Cruts M, Van Broeckhoven C, Wilcock G, Rubinsztein DC.
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| Am J Hum Genet 62(1):70-6. 1998
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| 18 | 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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| 19 | AD3, PSEN1
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| De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases.
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| Dumanchin C, et al.
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| J Med Genet 35 : 672-673. 1998
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| 20 | AD3, PSEN1
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| Presenilin-1 mutations associated with familial Alzheimer's disease do not disrupt protein transport from the endoplasmic reticulum to the Golgi apparatus.
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| Tan Y, Hong J, Doan T, McConlogue L, Maltese WA.
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| Biochim Biophys Acta 1407 : 69-78. 1998
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| 21 | AD3, PSEN1
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| Fine mapping of 12 previously unassigned EST clones to individual YACs in the familial Alzheimer's disease (FAD) region of chromosome 14q24.3.
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| Ardley HC, et al.
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| Cytogenet Cell Genet 82 : 107-109. 1998
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| 22 | AD3, PSEN1
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| Presenilin 1 mutations linked to familial Alzheimer's disease increase the intracellular levels of amyloid beta-protein 1-42 and its N-terminally truncated variants(s) which are generated at distinct sites.
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| Sudoh S, et al.
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| J Neurochem 71 : 1535-1543. 1998
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| 23 | AD3, PSEN1
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| of the presenilin-1 gene does not necessarily cause Alzheimer's disease.
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| Mattila KM, et al.
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| Ann Neurol 44 : 965-967. 1998
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| 24 | 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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| 25 | AD3, PSEN1
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| Presenilin-1 gene intronic polymorphism in sporadic and familial Alzheimer's disease.
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| Sorbi S, et al.
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| Neurosci Lett 222 : 132-134. 1997
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| 26 | AD3, PSEN1
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| A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI.
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| Aoki M, et al.
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| Neurology 48 : 1118-1120. 1997
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| 27 | AD3, PSEN1
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| A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes.
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| Gomez-Isla T, Wasco W, Pettingell WP, Gurubhagavatula S, Schmidt SD, Jondro PD, McNamara M, Rodes LA, DiBlasi T, Growdon WB, Seubert P, Schenk D, Growdon JH, Hyman BT, Tanzi RE.
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| Ann Neurol 41(6):809-13. 1997
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| 28 | AD3, PSEN1
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| Increased A beta 42(43)-plaque deposition in early-onset familial Alzheimer's disease brains with the deletion of exon 9 and the missense point mutation (H163R) in the PS-1 gene.
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| Ishii K, Ii K, Hasegawa T, Shoji S, Doi A, Mori H.
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| Neurosci Lett 228(1):17-20. 1997
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| 29 | AD3, PSEN1
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| E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles.
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| Lendon CL, Martinez A, Behrens IM, Kosik KS, Madrigal L, Norton J, Neuman R, Myers A, Busfield F, Wragg M, Arcos M, Arango Viana JC, Ossa J, Ruiz A, Goate AM, Lopera F.
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| Hum Mutat 10(3):186-95. 1997
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| 30 | 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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| 31 | 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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| 32 | AD3, PSEN1
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| Mutation analysis of presenilin 1 gene in Alzheimer's disease.
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| Boteva K, et al.
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| Lancet 347 : 130-131. 1996
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| 33 | AD3, PSEN1
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| Conservation of synteny between the genome of the pufferfish (Fugu rubripes) and the region on human chromosome 14 (14q24.3) associated with familial Alzheimer disease (AD3 locus).
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| Trower MK, et al.
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| Proc Natl Acad Sci U S A 93 : 1366-1369. 1996
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| 34 | AD3, PSEN1
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| Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease.
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| Wragg M, et al.
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| Lancet 347 : 509-512. 1996
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| 35 | AD3, PSEN1
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| Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families.
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| Kamino K, et al.
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| Neurosci Lett 208 : 195-198. 1996
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| 36 | AD1, AD2, AD3
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| Segregation analysis of Alzheimer pedigrees : rare Mendelian dominant mutation(s) explain a minority of early-onset cases.
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| Martinez M, et al.
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| Am J Med Genet 67 : 9-12. 1996
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| 37 | AD3, PSEN1
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| Assignment of Alzheimer's presenilin-1 (PS-1) gene to 14q24.3 by fluorescence in situ hybridization.
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| Takano T, et al.
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| Neurosci Lett 214 : 69-71. 1996
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| 38 | AD3, PSEN1
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| A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis.
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| Reznik-Wolf H, et al.
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| Hum Genet 98 : 700-702. 1996
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| 39 | 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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| 40 | AD3, PSEN1
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| Familial Alzheimer's disease co-segregates with a Met146Ile substitution in presenilin-1.
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| Jšrgensen P, et al.
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| Clin Genet 50 : 281-286. 1996
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| 41 | AD3, PSEN1
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| The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients.
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| Ikeda M, et al.
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| Ann Neurol 40 : 912-917. 1996
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| 42 | AD3, PSEN1
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| Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3.
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| Cruts M, et al.
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| Hum Mol Genet 4 : 2363-2371. 1995
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| 43 | AD3, PSEN1, PSEN2
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| Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
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| Campion D, et al.
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| Hum Mol Genet 4 : 2373-2377. 1995
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| 44 | AD3, DLST
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| Mutation analysis of the chromosome 14q24.3 dihydrolipoyl succinyltransferase (DLST) gene in patients with early-onset Alzheimer disease.
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| Cruts M, et al.
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| Neurosci Lett 199 : 73-77. 1995
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| 45 | D14S43, AD3
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| Allelic association at the D14S43 locus in early onset Alzheimer's disease.
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| Brice A, et al.
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| Am J Med Genet 60 : 91-93. 1995
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| 46 | AD3
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| Chromosome 14 linked familial Alzheimer's disease. A clinico-pathological study of a single pedigree.
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| Kennedy AM, et al.
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| Brain 118 : 185-205. 1995
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| 47 | AD3, PSEN1, NUMB, EIF2B2 , RGS6 , VWM2
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| Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
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| Sherrington R, et al.
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| Nature 375 : 754-760. 1995
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| 48 | AD3
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| A yeast artificial chromosome contig from human chromosome 14q24 spanning the Alzheimer's disease locus AD3.
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| Clark RF, Cruts M, Korenblat KM, He C, Talbot C, Van Broeckhoven C, Goate AM.
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| Hum Mol Genet 4(8):1347-54. 1995
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| 49 | AD3
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| Genetic and physical characterization of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3.
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| Cruts M, et al.
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| Hum Mol Genet 4 : 1355-1364. 1995
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| 50 | AD1, AD2, AD3
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| A population-based study of familial Alzheimer disease : linkage to chromosome 14, 19, and 21.
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| Van Duijn CM, et al.
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| Am J Hum Genet 55 : 714-727. 1994
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| 51 | AD3
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| Assignment of a familial Alzheimer's disease locus between D14S289 and D14S53.
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| Mitsunaga Y, et al.
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| Lancet 344 : 1154-1155. 1994
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| 52 | AD3
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| A large Early-Onset Alzheimer's disease pedigree linked to chromosome 14q24.3. (abstr)
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| Hannequin D, et al.
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| Am J Hum Genet 55 : A348. 1994
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| 53 | AD3
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| Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred.
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| Lampe TH, et al.
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| Ann Neurol 36 : 368-378. 1994
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| 54 | AD3
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| Chromosome 14-encoded Alzheimer's disease : genetic and clinicopathological description.
|
| Haltia M, et al.
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| Ann Neurol 36 : 362-367. 1994
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| 55 | AD1, AD3
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| No linkage to chromosome 14 in Swedish Alzheimer's disease families.
|
| Lannfelt L, et al.
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| Nat Genet 4 : 218-219. 1993
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| 56 | AD3
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| Chromosome 14 and late-onset familial Alzheimer disease (FAD).
|
| Schellenberg GD, et al.
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| Am J Hum Genet 53 : 619-628. 1993
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| 57 | APOE, AD3
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| Apolipoprotein E epsilon4 allele distributions in late-onset Alzheimer's disease and in other amyloid-forming diseases.
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| Saunders AM, et al.
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| Lancet 342 : 710-711. 1993
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| 58 | APOE, AD3
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| Apolipoprotein E polymorphism and Alzheimer's disease.
|
| Poirier J, et al.
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| Lancet 342 : 697-699. 1993
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| 59 | AD3
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| Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14.
|
| Schellenberg GD, et al.
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| Science 258 : 668-671. 1992
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| 60 | AD3
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| Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.
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| St George-Hyslop P, et al.
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| Nat Genet 2 : 330-334. 1992
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| 61 | AD3
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| A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the alpha1-antichymotrypsin gene.
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| Mullan M, et al.
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| Nat Genet 2 : 340-342. 1992
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| 62 | AD3
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| Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3.
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| Van Broeckhoven C, et al.
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| Nat Genet 2 : 335-339. 1992
|