| 1 | AD1, APP
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| A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.
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| Di Fede G, Catania M, Morbin M, Rossi G, Suardi S, Mazzoleni G, Merlin M, Giovagnoli AR, Prioni S, Erbetta A, Falcone C, Gobbi M, Colombo L, Bastone A, Beeg M, Manzoni C, Francescucci B, Spagnoli A, Cantů L, Del Favero E, Levy E, Salmona M, Tagliavini F.
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| Science 323(5920):1473-7. 2009
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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 | APP, AD1
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| APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.
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| Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerriere A, Vital A, Dumanchin C, Feuillette S, Brice A, Vercelletto M, Dubas F, Frebourg T, Campion D.
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| Nat Genet 38(1):24-6. Epub 2005 Dec 20. 2006
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| 5 | APP, AD1
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| Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment.
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| Theuns J, Marjaux E, Vandenbulcke M, Van Laere K, Kumar-Singh S, Bormans G, Brouwers N, Van den Broeck M, Vennekens K, Corsmit E, Cruts M, De Strooper B, Van Broeckhoven C, Vandenberghe R.
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| Hum Mutat 27(9):888-96. 2006
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| 6 | AD1,APP
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| APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy.
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| Sleegers K, Brouwers N, Gijselinck I, Theuns J, Goossens D, Wauters J, Del-Favero J, Cruts M, van Duijn CM, Van Broeckhoven C.
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| Brain 129(Pt 11):2977-83. Epub 2006 Aug 18. 2006
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| 7 | AD1,APP
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| Phenotype associated with APP duplication in five families.
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| Cabrejo L, Guyant-Marechal L, Laquerriere A, Vercelletto M, De la Fourniere F, Thomas-Anterion C, Verny C, Letournel F, Pasquier F, Vital A, Checler F, Frebourg T, Campion D, Hannequin D.
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| Brain 129(Pt 11):2966-76. Epub 2006 Sep 7. 2006
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| 8 | 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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| 9 | 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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| 10 | 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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| 11 | AD1, BACE1
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| beta-Secretase cleavage of the amyloid precursor protein mediates neuronal apoptosis caused by familial Alzheimer's disease mutations.
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| McPhie DL, Golde T, Eckman CB, Yager D, Brant JB, Neve RL.
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| Brain Res Mol Brain Res 97(1):103-13. 2001
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| 12 | AD1
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| Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692).
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| Roks G, Van Harskamp F, De Koning I, Cruts M, De Jonghe C, Kumar-Singh S, Tibben A, Tanghe H, Niermeijer MF, Hofman A, Van Swieten JC, Van Broeckhoven C, Van Duijn CM.
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| Brain 123 ( Pt 10):2130-40. 2000
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| 13 | APP, AD1
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| Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new val-715 --> met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease.
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| Ancolio K, et al.
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| Proc Natl Acad Sci U S A 96(7):4119-24. 1999
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| 14 | AD1, APP
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| Enhancer function and novel DNA binding protein activity in the near upstream betaAPP gene promoter.
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| Querfurth HW, et al.
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| Gene 232(1):125-41. 1999
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| 15 | AD1
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| Decrease and structural modifications of phosphatidylethanolamine plasmalogen in the brain with Alzheimer disease.
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| Guan Z, et al.
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| J Neuropathol Exp Neurol 58(7):740-7 1999
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| 16 | 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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| 17 | AD1, PSEN1
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| Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein.
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| De Strooper B, et al.
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| Nature 391 : 387-390. 1998
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| 18 | AD1, APP
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| Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-Gly mutation.
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| Cras P, et al.
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| Acta Neuropathol 96 : 253-260. 1998
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| 19 | APP, AD1
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| The role of A beta 42 in Alzheimer's disease.
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| Younkin SG.
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| J Physiol Paris 92(3-4):289-92. Review. 1998
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| 20 | AD1, APP
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| A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43).
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| Eckman CB, Mehta ND, Crook R, Perez-tur J, Prihar G, Pfeiffer E, Graff-Radford N, Hinder P, Yager D, Zenk B, Refolo LM, Prada CM, Younkin SG, Hutton M, Hardy J.
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| Hum Mol Genet 6(12):2087-9. 1997
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| 21 | 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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| 22 | AD1, PSEN1
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| A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease.
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| Forsell C, Froelich S, Axelman K, Vestling M, Cowburn RF, Lilius L, Johnston JA, Engvall B, Johansson K, Dahlkild A, Ingelson M, St George-Hyslop PH, Lannfelt L.
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| Neurosci Lett 234(1):3-6. 1997
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| 23 | APP, AD1
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| Mutational screening of APP gene in patients with early-onset Alzheimer disease utilizing mismatched PCR-RFLP.
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| Nishiwaki Y, et al.
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| Clin Genet 49 : 119-123. 1996
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| 24 | 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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| 25 | APP, AD1
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| Intrinsic signaling function of APP as a novel target of three V642 mutations linked to familial Alzheimer's disease.
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| Okamoto T, et al.
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| EMBO J 15 : 3769-3777. 1996
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| 26 | APP, AD1
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| The Swedish mutation causes early-onset Alzheimer's disease by beta-secretase cleavage within the secretory pathway.
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| Haass C, et al.
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| Nat Med 1 : 1291-1296. 1995
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| 27 | APP, AD1
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| A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease.
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| Brooks WS, et al.
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| Neurosci Lett 199 : 183-186. 1995
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| 28 | APP, AD1
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| Altered cleavage and secretion of a recombinant beta-APP bearing the Swedish familial Alzheimer's disease mutation.
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| Felsenstein KM, et al.
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| Nat Genet 6 : 251-254. 1994
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| 29 | AD1, APP
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| Mutational analysis of the amyloid precursor protein gene in Japanese familial Alzheimer's disease kindreds.
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| Fujigasaki H, et al.
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| Hum Genet 93 : 460-462. 1994
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| 30 | APP, AD1
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| Novel amyloid precursor protein gene mutation (Codon 665Asp) in a patient with late-onset Alzheimer's disease.
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| Peacock ML, et al.
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| Ann Neurol 35 : 432-438. 1994
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| 31 | AD1, APP
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| Mutations associated with a locus for familial Alzheimer's disease result in alternative processing of amyloid beta-protein precursor.
|
| Haass C, et al.
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| J Biol Chem 269 : 17741-17748. 1994
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| 32 | 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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| 33 | AD1, APP
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| A large Swedish family with Alzheimer's disease with a codon 670/671 amyloid precursor protein mutation.
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| Axelman K, et al.
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| Arch Neurol 51 : 1193-1197. 1994
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| 34 | AD1, AD3
|
| No linkage to chromosome 14 in Swedish Alzheimer's disease families.
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| Lannfelt L, et al.
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| Nat Genet 4 : 218-219. 1993
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| 35 | AD1
|
| A novel mutation in the beta-protein coding region of the amyloid beta-protein precursor (APP) gene.
|
| Balbin M, et al.
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| Hum Genet 89 : 580-582. 1992
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| 36 | AD1
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| Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases.
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| Tanzi RE, et al.
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| Am J Hum Genet 51 : 273-282. 1992
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| 37 | AD1
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| Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region.
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| Kamino K, et al.
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| Am J Hum Genet 51 : 998-1014. 1992
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| 38 | AD1
|
| The ADI locus in familial Alzheimer disease.
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| Lawrence S, et al.
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| Ann Hum Genet 56 : 295-301. 1992
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| 39 | APP, AD1
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| Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene.
|
| Karlinsky H, et al.
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| Neurology 42 : 1445-1453. 1992
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| 40 | AD1, AD2, APP
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| Molecular classification of Alzheimer's disease.
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| Hardy J, et al.
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| Lancet 337 : 1342-1343. 1991
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| 41 | AD1
|
| Exclusion of linkage to the pericentromeric region of chromosome 21 in the Canadian pedigree with familial Alzheimer disease.
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| Pulst SM, et al.
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| Hum Genet 87 : 159-161. 1991
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| 42 | AD1
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| Physical mapping of the proximal region of chromosome 21q in relation to familial Alzheimer's disease.
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| Van Hul W, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2041. 1991
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| 43 | AD1, APP
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| Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.
|
| Goate A, et al.
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| Nature 349 : 704-706. 1991
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| 44 | AD1, APP
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| Amyloid precursor protein gene mutation in early-onset Alzheimer's disease.
|
| van Duijn CM, et al.
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| Lancet 337 : 978. 1991
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| 45 | AD1, APP
|
| Mis-sense mutation Val-Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease.
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| Naruse S, et al.
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| Lancet 337 : 978-979. 1991
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| 46 | AD1
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| Linkage analysis of familial Alzheimer disease, using chromosome 21 markers.
|
| Schellenberg GD, et al.
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| Am J Hum Genet 48 : 563-583. 1991
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| 47 | AD1
|
| Physical mapping around the Alzeimer disease locus on the proximal long arm of chromosome 21.
|
| Owen MJ, et al.
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| Am J Hum Genet 46 : 316-322. 1990
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| 48 | AD1
|
| Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder.
|
| St George-Hyslop PH, et al.
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| Nature 347 : 194-197. 1990
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| 49 | AD1
|
| Predisposing locus for Alzheimer's disease on chromosome 21.
|
| Goate AM, Haynes AR, Owen MJ, Farrall M, James LA, Lai LY, Mullan MJ, Roques P, Rossor MN, Williamson R, et al.
|
| Lancet 1(8634):352-5 1989
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| 50 | AD1
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| Selection of human chromosome 21-specific DNA probes for genetic analysis in Alzheimer's dementia and Down syndrome.
|
| Van Camp G, et al.
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| Hum Genet 83 : 58-60. 1989
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| 51 | AD1
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| The Alzheimer amyloid precursor protein maps to human chromosome 21 bands q21.105-q21.05.
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| Korenberg JR, et al.
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| Genomics 5 : 124-127. 1989
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| 52 | AD1
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| Absence of linkage of chromosome 21q21 markers to familial Alzheimer's disease.
|
| Schellenberg GD, et al.
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| Science 241 : 1507-1510. 1988
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| 53 | AD1, SOD1
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| Absence de liaison troite entre la maladie d'Alzheimer et la sonde polymorphe codant pour la superoxyde dismutase 1.
|
| David F, et al.
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| C R Acad Sci III 306 (III) : 1-4. 1988
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| 54 | AD1, APP
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| Chromosome 21 physical map : familial Alzheimer-linked DNA sequences cluster in a probable hot spot of recombination.
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| Pulst SM, et al.
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| Am J Hum Genet 43 : A156. 1988
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| 55 | AD1
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| The familial Alzheimer's disease gene is located close to the centromere of chromosome 21.
|
| Van Broeckhoven C, et al.
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| Am J Hum Genet 43 : A205. 1988
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| 56 | AD1, APP
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| Genetic linkage analysis of the Alzheimer's associated amyloid beta protein gene with familial Alzheimer's disease and chromosome 21.
|
| Tanzi R, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 703. 1987
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| 57 | AD1, APP
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| Localization of amyloid § protein messenger RNA in brains from patients with Alzheimer's disease.
|
| Bahmanyar S, et al.
|
| Science 237 : 77-80. 1987
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| 58 | AD1
|
| Linkage of familial Alzheimer disease to markers on chromosome 21.
|
| Haines JL, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 625. 1987
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| 59 | AD1
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| Amyloid beta protein gene : cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus.
|
| Tanzi RE, et al.
|
| Science 235 : 880-884. 1987
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| 60 | AD1
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| Linkage analysis in late onset familial Alzheimer's disease (AD).
|
| Roses AD, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 684. 1987
|
| 61 | AD1
|
| The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid §-protein gene.
|
| Tanzi RE, et al.
|
| Nature 329 : 156-157. 1987
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| 62 | APP, AD1
|
| Beta-amyloid gene is not present in three copies in autopsy-validated Alzheimer's disease.
|
| Warren AC, et al.
|
| Genomics 1 : 307-312. 1987
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| 63 | AD1
|
| Alzheimer disease-associated gene sublocalized by in situ chromosome hybridization.
|
| Jenkins EC, et al.
|
| Am J Hum Genet 41 : A125. 1987
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| 64 | APP, AD1
|
| Rearrangement of chromosome 21 in Alzheimer's disease.
|
| Delabar JM, et al.
|
| Ann Genet 29 : 226-228. 1986
|
| 65 | AD1
|
| A cDNA for a human microtubule associated protein 2 epitope in the Alzheimer neurofibrillary tangle.
|
| Neve RL, et al.
|
| Brain Res 387 : 193-196. 1986
|