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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00005460naa a2200889 4500
001oai:gup.ub.gu.se/202049
003SwePub
008240528s2014 | |||||||||||000 ||eng|
009oai:lup.lub.lu.se:0368d600-7e27-4d26-95e8-35d4379ea189
0247 a https://gup.ub.gu.se/publication/2020492 URI
0247 a https://doi.org/10.1093/hmg/ddu3342 DOI
0247 a https://lup.lub.lu.se/record/45236732 URI
040 a (SwePub)gud (SwePub)lu
041 a eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Bras, Jose4 aut
2451 0a Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.
264 c 2014-06-27
264 1b Oxford University Press (OUP),c 2014
520 a Clinical and neuropathological similarities between dementia with Lewy bodies (DLB), Parkinson's and Alzheimer's diseases (PD and AD, respectively) suggest that these disorders may share etiology. To test this hypothesis, we have performed an association study of 54 genomic regions, previously implicated in PD or AD, in a large cohort of DLB cases and controls. The cohort comprised 788 DLB cases and 2624 controls. To minimize the issue of potential misdiagnosis, we have also performed the analysis including only neuropathologically proven DLB cases (667 cases). The results show that the APOE is a strong genetic risk factor for DLB, confirming previous findings, and that the SNCA and SCARB2 loci are also associated after a study-wise Bonferroni correction, although these have a different association profile than the associations reported for the same loci in PD. We have previously shown that the p.N370S variant in GBA is associated with DLB, which, together with the findings at the SCARB2 locus, suggests a role for lysosomal dysfunction in this disease. These results indicate that DLB has a unique genetic risk profile when compared with the two most common neurodegenerative diseases and that the lysosome may play an important role in the etiology of this disorder. We make all these data available.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
7001 a Guerreiro, Rita4 aut
7001 a Darwent, Lee4 aut
7001 a Parkkinen, Laura4 aut
7001 a Ansorge, Olaf4 aut
7001 a Escott-Price, Valentina4 aut
7001 a Hernandez, Dena G4 aut
7001 a Nalls, Michael A4 aut
7001 a Clark, Lorraine N4 aut
7001 a Honig, Lawrence S4 aut
7001 a Marder, Karen4 aut
7001 a van der Flier, Wiesje M4 aut
7001 a Lemstra, Afina4 aut
7001 a Scheltens, Philip4 aut
7001 a Rogaeva, Ekaterina4 aut
7001 a St George-Hyslop, Peter4 aut
7001 a Londos, Elisabetu Lund University,Lunds universitet,Klinisk minnesforskning,Forskargrupper vid Lunds universitet,Clinical Memory Research,Lund University Research Groups4 aut0 (Swepub:lu)pski-elo
7001 a Zetterberg, Henrik,d 1973u Lund University,Lunds universitet,Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry,Klinisk minnesforskning,Forskargrupper vid Lunds universitet,Clinical Memory Research,Lund University Research Groups4 aut0 (Swepub:lu)med-hiz
7001 a Ortega-Cubero, Sara4 aut
7001 a Pastor, Pau4 aut
7001 a Ferman, Tanis J4 aut
7001 a Graff-Radford, Neill R4 aut
7001 a Ross, Owen A4 aut
7001 a Barber, Imelda4 aut
7001 a Braae, Anne4 aut
7001 a Brown, Kristelle4 aut
7001 a Morgan, Kevin4 aut
7001 a Maetzler, Walter4 aut
7001 a Berg, Daniela4 aut
7001 a Troakes, Claire4 aut
7001 a Al-Sarraj, Safa4 aut
7001 a Lashley, Tammaryn4 aut
7001 a Compta, Yaroslau4 aut
7001 a Revesz, Tamas4 aut
7001 a Lees, Andrew4 aut
7001 a Cairns, Nigel4 aut
7001 a Halliday, Glenda M4 aut
7001 a Mann, David4 aut
7001 a Pickering-Brown, Stuart4 aut
7001 a Dickson, Dennis W4 aut
7001 a Singleton, Andrew4 aut
7001 a Hardy, John4 aut
7001 a Compta, Yarko4 aut
7102 a Klinisk minnesforskningb Forskargrupper vid Lunds universitet4 org
7730 t Human molecular geneticsd : Oxford University Press (OUP)g 23:23, s. 6139-6146q 23:23<6139-6146x 1460-2083x 0964-6906
8564 u https://academic.oup.com/hmg/article-pdf/23/23/6139/17261047/ddu334.pdf
8564 u https://portal.research.lu.se/files/1675939/5265863x primaryx freey FULLTEXT
8564 u http://www.ncbi.nlm.nih.gov/pubmed/24973356?dopt=Abstracty FULLTEXT
8564 u http://dx.doi.org/10.1093/hmg/ddu334y FULLTEXT
8564 8u https://gup.ub.gu.se/publication/202049
8564 8u https://doi.org/10.1093/hmg/ddu334
8564 8u https://lup.lub.lu.se/record/4523673

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