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000156013 0247_ $$2doi$$a10.1038/s41588-021-00785-3
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000156013 0247_ $$2pmc$$apmc:PMC7946812
000156013 0247_ $$2ISSN$$a1061-4036
000156013 0247_ $$2ISSN$$a1546-1718
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000156013 037__ $$aDZNE-2021-01145
000156013 041__ $$aEnglish
000156013 082__ $$a570
000156013 1001_ $$aChia, Ruth$$b0
000156013 245__ $$aGenome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.
000156013 260__ $$aLondon$$bMacmillan Publishers Limited, part of Springer Nature$$c2021
000156013 3367_ $$2DRIVER$$aarticle
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000156013 520__ $$aThe genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer's disease and Parkinson's disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.
000156013 536__ $$0G:(DE-HGF)POF4-353$$a353 - Clinical and Health Care Research (POF4-353)$$cPOF4-353$$fPOF IV$$x0
000156013 536__ $$0G:(DE-HGF)POF4-352$$a352 - Disease Mechanisms (POF4-352)$$cPOF4-352$$fPOF IV$$x1
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000156013 650_7 $$2NLM Chemicals$$aAdaptor Proteins, Signal Transducing
000156013 650_7 $$2NLM Chemicals$$aBIN1 protein, human
000156013 650_7 $$2NLM Chemicals$$aNuclear Proteins
000156013 650_7 $$2NLM Chemicals$$aSNCA protein, human
000156013 650_7 $$2NLM Chemicals$$aTumor Suppressor Proteins
000156013 650_7 $$2NLM Chemicals$$aalpha-Synuclein
000156013 650_7 $$0EC 3.2.1.45$$2NLM Chemicals$$aGBA protein, human
000156013 650_7 $$0EC 3.2.1.45$$2NLM Chemicals$$aGlucosylceramidase
000156013 650_2 $$2MeSH$$aAdaptor Proteins, Signal Transducing: genetics
000156013 650_2 $$2MeSH$$aAlzheimer Disease: genetics
000156013 650_2 $$2MeSH$$aCase-Control Studies
000156013 650_2 $$2MeSH$$aGene Expression Profiling
000156013 650_2 $$2MeSH$$aGenetic Predisposition to Disease
000156013 650_2 $$2MeSH$$aGenome, Human
000156013 650_2 $$2MeSH$$aGenome-Wide Association Study
000156013 650_2 $$2MeSH$$aGlucosylceramidase: genetics
000156013 650_2 $$2MeSH$$aHumans
000156013 650_2 $$2MeSH$$aLewy Body Disease: genetics
000156013 650_2 $$2MeSH$$aNuclear Proteins: genetics
000156013 650_2 $$2MeSH$$aParkinson Disease: genetics
000156013 650_2 $$2MeSH$$aPolymorphism, Single Nucleotide
000156013 650_2 $$2MeSH$$aTumor Suppressor Proteins: genetics
000156013 650_2 $$2MeSH$$aalpha-Synuclein: genetics
000156013 7001_ $$aSabir, Marya S$$b1
000156013 7001_ $$aBandres-Ciga, Sara$$b2
000156013 7001_ $$aSaez-Atienzar, Sara$$b3
000156013 7001_ $$00000-0001-6470-7919$$aReynolds, Regina H$$b4
000156013 7001_ $$00000-0003-0541-7537$$aGustavsson, Emil$$b5
000156013 7001_ $$aWalton, Ronald L$$b6
000156013 7001_ $$aAhmed, Sarah$$b7
000156013 7001_ $$aViollet, Coralie$$b8
000156013 7001_ $$aDing, Jinhui$$b9
000156013 7001_ $$aMakarious, Mary B$$b10
000156013 7001_ $$00000-0003-1882-0309$$aDiez-Fairen, Monica$$b11
000156013 7001_ $$00000-0003-2866-9198$$aPortley, Makayla K$$b12
000156013 7001_ $$aShah, Zalak$$b13
000156013 7001_ $$aAbramzon, Yevgeniya$$b14
000156013 7001_ $$0P:(DE-2719)2812102$$aHernandez, Dena Michelle Godwin$$b15$$udzne
000156013 7001_ $$0P:(DE-2719)2810837$$aBlauwendraat, Cornelis$$b16$$udzne
000156013 7001_ $$aStone, David J$$b17
000156013 7001_ $$aEicher, John$$b18
000156013 7001_ $$00000-0002-3392-8564$$aParkkinen, Laura$$b19
000156013 7001_ $$aAnsorge, Olaf$$b20
000156013 7001_ $$aClark, Lorraine$$b21
000156013 7001_ $$aHonig, Lawrence S$$b22
000156013 7001_ $$aMarder, Karen$$b23
000156013 7001_ $$aLemstra, Afina$$b24
000156013 7001_ $$00000-0003-0796-7209$$aSt George-Hyslop, Peter$$b25
000156013 7001_ $$aLondos, Elisabet$$b26
000156013 7001_ $$00000-0002-8217-2396$$aMorgan, Kevin$$b27
000156013 7001_ $$aLashley, Tammaryn$$b28
000156013 7001_ $$aWarner, Thomas T$$b29
000156013 7001_ $$aJaunmuktane, Zane$$b30
000156013 7001_ $$aGalasko, Douglas$$b31
000156013 7001_ $$aSantana, Isabel$$b32
000156013 7001_ $$00000-0001-5686-2900$$aTienari, Pentti J$$b33
000156013 7001_ $$aMyllykangas, Liisa$$b34
000156013 7001_ $$00000-0002-6150-091X$$aOinas, Minna$$b35
000156013 7001_ $$00000-0001-9858-3344$$aCairns, Nigel J$$b36
000156013 7001_ $$aMorris, John C$$b37
000156013 7001_ $$00000-0003-0422-8398$$aHalliday, Glenda M$$b38
000156013 7001_ $$00000-0002-7400-9097$$aVan Deerlin, Vivianna M$$b39
000156013 7001_ $$0P:(DE-2719)9000946$$aTrojanowski, John Q$$b40$$udzne
000156013 7001_ $$aGrassano, Maurizio$$b41
000156013 7001_ $$00000-0002-5122-7243$$aCalvo, Andrea$$b42
000156013 7001_ $$aMora, Gabriele$$b43
000156013 7001_ $$aCanosa, Antonio$$b44
000156013 7001_ $$aFloris, Gianluca$$b45
000156013 7001_ $$aBohannan, Ryan C$$b46
000156013 7001_ $$aBrett, Francesca$$b47
000156013 7001_ $$00000-0003-0332-234X$$aGan-Or, Ziv$$b48
000156013 7001_ $$aGeiger, Joshua T$$b49
000156013 7001_ $$aMoore, Anni$$b50
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000156013 7001_ $$aGoldstein, David S$$b53
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000156013 7001_ $$00000-0002-1007-4957$$aTayebi, Nahid$$b55
000156013 7001_ $$aSidransky, Ellen$$b56
000156013 7001_ $$aCenter, American Genome$$b57$$eCollaboration Author
000156013 7001_ $$aNorcliffe-Kaufmann, Lucy$$b58
000156013 7001_ $$aPalma, Jose-Alberto$$b59
000156013 7001_ $$00000-0002-1851-9981$$aKaufmann, Horacio$$b60
000156013 7001_ $$00000-0003-2742-6469$$aShakkottai, Vikram G$$b61
000156013 7001_ $$00000-0001-7715-0638$$aPerkins, Matthew$$b62
000156013 7001_ $$aNewell, Kathy L$$b63
000156013 7001_ $$0P:(DE-2719)2320009$$aGasser, Thomas$$b64$$udzne
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000156013 7001_ $$aLandi, Francesco$$b66
000156013 7001_ $$aSalvi, Erika$$b67
000156013 7001_ $$00000-0002-1006-7597$$aCusi, Daniele$$b68
000156013 7001_ $$aMasliah, Eliezer$$b69
000156013 7001_ $$aKim, Ronald C$$b70
000156013 7001_ $$aCaraway, Chad A$$b71
000156013 7001_ $$aMonuki, Edwin S$$b72
000156013 7001_ $$aBrunetti, Maura$$b73
000156013 7001_ $$aDawson, Ted M$$b74
000156013 7001_ $$aRosenthal, Liana S$$b75
000156013 7001_ $$aAlbert, Marilyn S$$b76
000156013 7001_ $$aPletnikova, Olga$$b77
000156013 7001_ $$aTroncoso, Juan C$$b78
000156013 7001_ $$aFlanagan, Margaret E$$b79
000156013 7001_ $$00000-0001-7876-2046$$aMao, Qinwen$$b80
000156013 7001_ $$aBigio, Eileen H$$b81
000156013 7001_ $$00000-0001-7742-677X$$aRodríguez-Rodríguez, Eloy$$b82
000156013 7001_ $$aInfante, Jon$$b83
000156013 7001_ $$aLage, Carmen$$b84
000156013 7001_ $$aGonzález-Aramburu, Isabel$$b85
000156013 7001_ $$00000-0002-6081-8037$$aSanchez-Juan, Pascual$$b86
000156013 7001_ $$aGhetti, Bernardino$$b87
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000156013 7001_ $$00000-0001-7093-8289$$aBlack, Sandra E$$b89
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000156013 7001_ $$00000-0002-5565-6678$$aHodges, Angela K$$b110
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000156013 7001_ $$aKlein, Gregory$$b112
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000156013 7001_ $$aSingleton, Andrew B$$b147
000156013 7001_ $$00000-0001-9520-6957$$aRyten, Mina$$b148
000156013 7001_ $$aDickson, Dennis W$$b149
000156013 7001_ $$00000-0001-9579-5341$$aChiò, Adriano$$b150
000156013 7001_ $$00000-0003-4813-756X$$aRoss, Owen A$$b151
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000156013 773__ $$0PERI:(DE-600)1494946-5$$a10.1038/s41588-021-00785-3$$gVol. 53, no. 3, p. 294 - 303$$n3$$p294 - 303$$tNature genetics$$v53$$x1546-1718$$y2021
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