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dc.contributor.author김승현-
dc.date.accessioned2018-03-30T05:11:17Z-
dc.date.available2018-03-30T05:11:17Z-
dc.date.issued2014-05-
dc.identifier.citationNEUROBIOLOGY OF AGING, 35(5), 1213.e13en_US
dc.identifier.issn0197-4580-
dc.identifier.issn1558-1497-
dc.identifier.urihttp://www.sciencedirect.com/science/article/pii/S0197458013006179-
dc.identifier.urihttp://hdl.handle.net/20.500.11754/54297-
dc.description.abstractThe hexanucleotide repeat expansion (GGGGCC) in chromosome 9 open-reading frame 72 (C9orf72) and mutations in the microtubule-associated protein tau (MAPT) and progranulin (GRN) genes are known to be associated with the main causes of familial or sporadic amyotrophic lateral sclerosis and frontotemporal dementia (FTD) in Western populations. These genetic abnormalities have rarely been studied in Asian FTD populations. We investigated the frequencies of mutations in MAPT and GRN and the C9orf72 abnormal expansion in 75 Korean FTD patients. Two novel missense variants of unknown significance in the MAPT and GRN were detected in each gene. However, neither abnormal C9orf72 expansion nor pathogenic MAPT or GRN mutation was found. Our findings indicate that MAPT, GRN, and C9orf72 mutations are rare causes of FTD in Korean patients. (C) 2014 Elsevier Inc. All rights reserved.en_US
dc.description.sponsorshipThis study was supported by a grant of the Korea Healthcare Technology R&D Project, Ministry of Health and Welfare, Republic of Korea (HI10C2020), and a grant of the Korean Health Technology R&D Project, Ministry of Health and Welfare, Republic of Korea (A120182).en_US
dc.language.isoenen_US
dc.publisherELSEVIER SCIENCE INC, 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USAen_US
dc.subjectC9orf72en_US
dc.subjectFrontotemporal dementiaen_US
dc.subjectGRNen_US
dc.subjectKoreanen_US
dc.subjectMAPTen_US
dc.subjectMutationen_US
dc.titleClinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementiaen_US
dc.typeArticleen_US
dc.relation.no5-
dc.relation.volume35-
dc.identifier.doi10.1016/j.neurobiolaging.2013.11.033-
dc.relation.page13-17-
dc.relation.journalNEUROBIOLOGY OF AGING-
dc.contributor.googleauthorKim, Eun-Joo-
dc.contributor.googleauthorKwon, Jay C.-
dc.contributor.googleauthorPark, Kee Hyung-
dc.contributor.googleauthorPark, Kyung-Won-
dc.contributor.googleauthorLee, Jae-Hong-
dc.contributor.googleauthorChoi, Seong Hye-
dc.contributor.googleauthorJeong, Jee H.-
dc.contributor.googleauthorKim, Byeong C.-
dc.contributor.googleauthorYoon, Soo Jin-
dc.contributor.googleauthorKim, Seung Hyun-
dc.relation.code2014036568-
dc.sector.campusS-
dc.sector.daehakCOLLEGE OF MEDICINE[S]-
dc.sector.departmentDEPARTMENT OF MEDICINE-
dc.identifier.pidkimsh1-
dc.identifier.researcherIDT-5133-2017-
dc.identifier.orcidhttp://orcid.org/0000-0001-9644-9598-
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COLLEGE OF MEDICINE[S](의과대학) > ETC
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