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A comprehensive scr...
A comprehensive screening of copy number variability in dementia with Lewy bodies.
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- Kun-Rodrigues, Celia (author)
- University College London
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Orme, Tatiana (author)
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Carmona, Susana (author)
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show more...
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Hernandez, Dena G (author)
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Ross, Owen A (author)
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Eicher, John D (author)
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Shepherd, Claire (author)
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Parkkinen, Laura (author)
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Darwent, Lee (author)
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Heckman, Michael G (author)
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Scholz, Sonja W (author)
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Troncoso, Juan C (author)
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Pletnikova, Olga (author)
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Dawson, Ted (author)
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Rosenthal, Liana (author)
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Ansorge, Olaf (author)
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Clarimon, Jordi (author)
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Lleo, Alberto (author)
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Morenas-Rodriguez, Estrella (author)
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Clark, Lorraine (author)
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Honig, Lawrence S (author)
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Marder, Karen (author)
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Lemstra, Afina (author)
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Rogaeva, Ekaterina (author)
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St George-Hyslop, Peter (author)
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- Londos, Elisabet (author)
- Lund University,Lunds universitet,Klinisk minnesforskning,Forskargrupper vid Lunds universitet,Clinical Memory Research,Lund University Research Groups
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- Zetterberg, Henrik, 1973 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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Barber, Imelda (author)
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Braae, Anne (author)
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Brown, Kristelle (author)
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Morgan, Kevin (author)
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Troakes, Claire (author)
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Al-Sarraj, Safa (author)
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Lashley, Tammaryn (author)
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Holton, Janice (author)
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Compta, Yaroslau (author)
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Van Deerlin, Vivianna (author)
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Serrano, Geidy E (author)
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Beach, Thomas G (author)
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Lesage, Suzanne (author)
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Galasko, Douglas (author)
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Masliah, Eliezer (author)
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Santana, Isabel (author)
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Pastor, Pau (author)
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Diez-Fairen, Monica (author)
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Aguilar, Miquel (author)
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Tienari, Pentti J (author)
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Myllykangas, Liisa (author)
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Oinas, Minna (author)
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Revesz, Tamas (author)
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Lees, Andrew (author)
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Boeve, Brad F (author)
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Petersen, Ronald C (author)
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Ferman, Tanis J (author)
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Escott-Price, Valentina (author)
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Graff-Radford, Neill (author)
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Cairns, Nigel J (author)
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Morris, John C (author)
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Pickering-Brown, Stuart (author)
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Mann, David (author)
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Halliday, Glenda M (author)
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Hardy, John (author)
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Trojanowski, John Q (author)
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Dickson, Dennis W (author)
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Singleton, Andrew (author)
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Stone, David J (author)
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Guerreiro, Rita (author)
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- Bras, Jose (author)
- University College London,University of Aveiro
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(creator_code:org_t)
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et al
- Elsevier BV, 2019
- 2019
- English.
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In: Neurobiology of aging. - : Elsevier BV. - 1558-1497 .- 0197-4580. ; 75
- Related links:
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http://rihuc.huc.min...
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http://dx.doi.org/10...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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Abstract
Subject headings
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- The role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable; however, data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole-genome genotyping of 1454 DLB cases and 1525 controls to assess copy number variability. We used 2 algorithms to confidently detect CNVs, performed a case-control association analysis, screened for candidate CNVs previously associated with DLB-related diseases, and performed a candidate gene approach to fully explore the data. We identified 5 CNV regions with a significant genome-wide association to DLB; 2 of these were only present in cases and absent from publicly available databases: one of the regions overlapped LAPTM4B, a known lysosomal protein, whereas the other overlapped the NME1 locus and SPAG9. We also identified DLB cases presenting rare CNVs in genes previously associated with DLB or related neurodegenerative diseases, such as SNCA, APP, and MAPT. To our knowledge, this is the first study reporting genome-wide CNVs in a large DLB cohort. These results provide preliminary evidence for the contribution of CNVs in DLB risk.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Copy number variants
- Dementia with Lewy bodies
- Genome-wide
- MAPT
- SNCA
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
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Kun-Rodrigues, C ...
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Orme, Tatiana
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Carmona, Susana
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Hernandez, Dena ...
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Ross, Owen A
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Eicher, John D
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show more...
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Shepherd, Claire
-
Parkkinen, Laura
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Darwent, Lee
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Heckman, Michael ...
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Scholz, Sonja W
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Troncoso, Juan C
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Pletnikova, Olga
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Dawson, Ted
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Rosenthal, Liana
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Ansorge, Olaf
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Clarimon, Jordi
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Lleo, Alberto
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Morenas-Rodrigue ...
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Clark, Lorraine
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Honig, Lawrence ...
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Marder, Karen
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Lemstra, Afina
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Rogaeva, Ekateri ...
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St George-Hyslop ...
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Londos, Elisabet
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Zetterberg, Henr ...
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Barber, Imelda
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Braae, Anne
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Brown, Kristelle
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Morgan, Kevin
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Troakes, Claire
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Al-Sarraj, Safa
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Lashley, Tammary ...
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Holton, Janice
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Compta, Yaroslau
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Van Deerlin, Viv ...
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Serrano, Geidy E
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Beach, Thomas G
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Lesage, Suzanne
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Galasko, Douglas
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Masliah, Eliezer
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Santana, Isabel
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Pastor, Pau
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Diez-Fairen, Mon ...
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Aguilar, Miquel
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Tienari, Pentti ...
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Myllykangas, Lii ...
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Oinas, Minna
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Revesz, Tamas
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Lees, Andrew
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Boeve, Brad F
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Petersen, Ronald ...
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Ferman, Tanis J
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Escott-Price, Va ...
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Graff-Radford, N ...
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Cairns, Nigel J
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Morris, John C
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Pickering-Brown, ...
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Mann, David
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Halliday, Glenda ...
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Hardy, John
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Trojanowski, Joh ...
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Dickson, Dennis ...
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Singleton, Andre ...
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Stone, David J
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Guerreiro, Rita
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Bras, Jose
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Neurobiology of ...
- By the university
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University of Gothenburg
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Lund University