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024 7 _ |a 10.1038/s41588-021-00785-3
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024 7 _ |a pmc:PMC7946812
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024 7 _ |a 1061-4036
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024 7 _ |a 1546-1718
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024 7 _ |a altmetric:100201763
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037 _ _ |a DZNE-2021-01145
041 _ _ |a English
082 _ _ |a 570
100 1 _ |a Chia, Ruth
|b 0
245 _ _ |a Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.
260 _ _ |a London
|c 2021
|b Macmillan Publishers Limited, part of Springer Nature
336 7 _ |a article
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336 7 _ |a Journal Article
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336 7 _ |a ARTICLE
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336 7 _ |a Journal Article
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520 _ _ |a The 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.
536 _ _ |a 353 - Clinical and Health Care Research (POF4-353)
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536 _ _ |a 352 - Disease Mechanisms (POF4-352)
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650 _ 7 |a Adaptor Proteins, Signal Transducing
|2 NLM Chemicals
650 _ 7 |a BIN1 protein, human
|2 NLM Chemicals
650 _ 7 |a Nuclear Proteins
|2 NLM Chemicals
650 _ 7 |a SNCA protein, human
|2 NLM Chemicals
650 _ 7 |a Tumor Suppressor Proteins
|2 NLM Chemicals
650 _ 7 |a alpha-Synuclein
|2 NLM Chemicals
650 _ 7 |a GBA protein, human
|0 EC 3.2.1.45
|2 NLM Chemicals
650 _ 7 |a Glucosylceramidase
|0 EC 3.2.1.45
|2 NLM Chemicals
650 _ 2 |a Adaptor Proteins, Signal Transducing: genetics
|2 MeSH
650 _ 2 |a Alzheimer Disease: genetics
|2 MeSH
650 _ 2 |a Case-Control Studies
|2 MeSH
650 _ 2 |a Gene Expression Profiling
|2 MeSH
650 _ 2 |a Genetic Predisposition to Disease
|2 MeSH
650 _ 2 |a Genome, Human
|2 MeSH
650 _ 2 |a Genome-Wide Association Study
|2 MeSH
650 _ 2 |a Glucosylceramidase: genetics
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Lewy Body Disease: genetics
|2 MeSH
650 _ 2 |a Nuclear Proteins: genetics
|2 MeSH
650 _ 2 |a Parkinson Disease: genetics
|2 MeSH
650 _ 2 |a Polymorphism, Single Nucleotide
|2 MeSH
650 _ 2 |a Tumor Suppressor Proteins: genetics
|2 MeSH
650 _ 2 |a alpha-Synuclein: genetics
|2 MeSH
700 1 _ |a Sabir, Marya S
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700 1 _ |a Reynolds, Regina H
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700 1 _ |a Floris, Gianluca
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700 1 _ |a Bohannan, Ryan C
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700 1 _ |a Brett, Francesca
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700 1 _ |a Gan-Or, Ziv
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700 1 _ |a Geiger, Joshua T
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700 1 _ |a Moore, Anni
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700 1 _ |a Tayebi, Nahid
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700 1 _ |a Sidransky, Ellen
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700 1 _ |a Center, American Genome
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700 1 _ |a Norcliffe-Kaufmann, Lucy
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700 1 _ |a Palma, Jose-Alberto
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700 1 _ |a Kaufmann, Horacio
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700 1 _ |a Shakkottai, Vikram G
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700 1 _ |a Perkins, Matthew
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700 1 _ |a Newell, Kathy L
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700 1 _ |a Landi, Francesco
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700 1 _ |a Cusi, Daniele
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700 1 _ |a Masliah, Eliezer
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700 1 _ |a Kim, Ronald C
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700 1 _ |a Caraway, Chad A
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700 1 _ |a Monuki, Edwin S
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700 1 _ |a Brunetti, Maura
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700 1 _ |a Dawson, Ted M
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700 1 _ |a Rosenthal, Liana S
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700 1 _ |a Albert, Marilyn S
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700 1 _ |a Pletnikova, Olga
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700 1 _ |a Troncoso, Juan C
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700 1 _ |a Flanagan, Margaret E
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700 1 _ |a Mao, Qinwen
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700 1 _ |a Bigio, Eileen H
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700 1 _ |a Rodríguez-Rodríguez, Eloy
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700 1 _ |a Infante, Jon
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700 1 _ |a Lage, Carmen
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700 1 _ |a González-Aramburu, Isabel
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700 1 _ |a Sanchez-Juan, Pascual
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700 1 _ |a Ghetti, Bernardino
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700 1 _ |a Masellis, Mario
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700 1 _ |a Lesage, Suzanne
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700 1 _ |a Xiromerisiou, Georgia
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700 1 _ |a Barrett, Matthew J
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700 1 _ |a Tilley, Bension S
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700 1 _ |a Logroscino, Giancarlo
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700 1 _ |a Serrano, Geidy E
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700 1 _ |a McKeith, Ian G
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700 1 _ |a Dickson, Dennis W
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773 _ _ |a 10.1038/s41588-021-00785-3
|g Vol. 53, no. 3, p. 294 - 303
|0 PERI:(DE-600)1494946-5
|n 3
|p 294 - 303
|t Nature genetics
|v 53
|y 2021
|x 1546-1718
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