TY  -  
T1  - A comprehensive screening of copy number variability in dementia with Lewy bodies 
SN  -  /  
UR  - http://hdl.handle.net/10138/311291 
T3  -  
A1  - Kun-Rodrigues, Celia; Orme, Tatiana; Carmona, Susana; Hernandez, Dena G.; Ross, Owen A.; Eicher, John D.; Shepherd, Claire; Parkkinen, Laura; Darwent, Lee; Heckman, Michael G.; Scholz, Sonja W.; Troncoso, Juan C.; Pletnikova, Olga; Dawson, Ted; Rosenthal, Liana; Ansorge, Olaf; Clarimonm, Jordi; Lleo, Alberto; Morenas-Rodriguez, Estrella; Clark, Lorraine; Honig, Lawrence S.; Marder, Karen; Lemstra, Afina; Rogaeva, Ekaterina; St George-Hyslop, Peter; Londos, Elisabet; Zetterberg, Henrik; Barber, Imelda; Braae, Anne; Brown, Kristelle; Morgan, Kevin; Troakes, Claire; Al-Sarraj, Safa; Lashley, Tammaryn; Holton, Janice; Compta, Yaroslau; Van Deerlin, Vivianna; Serrano, Geidy E.; Beach, Thomas G.; Lesage, Suzanne; Galasko, Douglas; Masliah, Eliezer; Santana, Isabel; Pastor, Pau; Diez-Fairen, Monica; Aguilar, Miquel; Tienari, Pentti J.; Myllykangas, Liisa; Oinas, Minna; Revesz, Tamas; Lees, Andrew; Boeve, Brad F.; Petersen, Ronald C.; Ferman, Tanis J.; Escott-Price, Valentina; Graff-Radford, Neill; Cairns, Nigel J.; Morris, John C.; Pickering-Brown, Stuart; Mann, David; Halliday, Glenda M.; Hardy, John; Trojanowski, John Q.; Dickson, Dennis W.; Singleton, Andrew; Stone, David J.; Guerreiro, Rita; Bras, Jose 
A2  -  
PB  -  
Y1  - 2019 
LA  - eng 
AB  - 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 f... 
VO  -  
IS  -  
SP  -  
OP  -  
KW  - Dementia with Lewy bodies; Copy number variants; MAPT; SNCA; Genome-wide; SYNUCLEIN GENE DUPLICATION; GENOME-WIDE ASSOCIATION; ALPHA-SYNUCLEIN; ALZHEIMERS-DISEASE; MAPT GENE; PURINE METABOLISM; PARKINSON-DISEASE; SNAPSHOT GENETICS; GLUCOCEREBROSIDASE MUTATIONS; RARE; 3124 Neurology and psychiatry 
N1  -   
PP  -  
ER  -