{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T20:24:31Z","timestamp":1774988671098,"version":"3.50.1"},"reference-count":8,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2013,7,24]],"date-time":"2013-07-24T00:00:00Z","timestamp":1374624000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2013,8]]},"DOI":"10.1007\/s00415-013-7050-8","type":"journal-article","created":{"date-parts":[[2013,7,24]],"date-time":"2013-07-24T13:19:54Z","timestamp":1374671994000},"page":"2188-2190","source":"Crossref","is-referenced-by-count":13,"title":["Heterozygous TREX1 mutations in early-onset cerebrovascular disease"],"prefix":"10.1007","volume":"260","author":[{"given":"N.","family":"Pelzer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Vries","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. M. J.","family":"Boon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. C.","family":"Kruit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Haan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. D.","family":"Ferrari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. M. J. M.","family":"Maagdenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. M.","family":"Terwindt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,7,24]]},"reference":[{"key":"7050_CR1","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1016\/S1474-4422(09)70127-9","volume":"8","author":"H Chabriat","year":"2009","unstructured":"Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG (2009) Cadasil. Lancet Neurol 8:643\u2013653","journal-title":"Lancet Neurol"},{"key":"7050_CR2","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1111\/j.1399-0004.2011.01825.x","volume":"81","author":"C Chahwan","year":"2012","unstructured":"Chahwan C, Chahwan R (2012) Aicardi-Goutieres syndrome: from patients to genes and beyond. Clin Genet 81:413\u2013420","journal-title":"Clin Genet"},{"key":"7050_CR3","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1038\/ng1845","volume":"38","author":"YJ Crow","year":"2006","unstructured":"Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, Black DN, van Bokhoven H, Brunner HG, Hamel BC, Corry PC, Cowan FM, Frints SG, Klepper J, Livingston JH, Lynch SA, Massey RF, Meritet JF, Michaud JL, Ponsot G, Voit T, Lebon P, Bonthron DT, Jackson AP, Barnes DE, Lindahl T (2006) Mutations in the gene encoding the 3\u2032-5\u2032 DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. Nat Genet 38:917\u2013920","journal-title":"Nat Genet"},{"key":"7050_CR4","doi-asserted-by":"crossref","first-page":"1886","DOI":"10.1136\/ard.2009.114157","volume":"69","author":"B Vries de","year":"2010","unstructured":"de Vries B, Steup-Beekman GM, Haan J, Bollen EL, Luyendijk J, Frants RR, Terwindt GM, Van Buchem MA, Huizinga TW, van den Maagdenberg AM, Ferrari MD (2010) TREX1 gene variant in neuropsychiatric systemic lupus erythematosus. Ann Rheum Dis 69:1886\u20131887","journal-title":"Ann Rheum Dis"},{"key":"7050_CR5","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1038\/ng2091","volume":"39","author":"MA Lee-Kirsch","year":"2007","unstructured":"Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee YA, de Silva U, Bailey SL, Witte T, Vyse TJ, Kere J, Pfeiffer C, Harvey S, Wong A, Koskenmies S, Hummel O, Rohde K, Schmidt RE, Dominiczak AF, Gahr M, Hollis T, Perrino FW, Lieberman J, H\u00fcbner N (2007) Mutations in the gene encoding the 3\u2032-5\u2032 DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet 39:1065\u20131067","journal-title":"Nat Genet"},{"key":"7050_CR6","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1038\/gene.2010.73","volume":"12","author":"B Namjou","year":"2011","unstructured":"Namjou B, Kothari PH, Kelly JA, Glenn SB, Ojwang JO, Adler A, Alarcon-Riquelme ME, Gallant CJ, Boackle SA, Criswell LA, Kimberly RP, Brown E, Edberg J, Stevens AM, Jacob CO, Tsao BP, Gilkeson GS, Kamen DL, Merrill JT, Petri M, Goldman RR, Vila LM, Anaya JM, Niewold TB, Martin J, Pons-Estel BA, Sabio JM, Callejas JL, Vyse TJ, Bae SC, Perrino FW, Freedman BI, Scofield RH, Moser KL, Gaffney PM, James JA, Langefeld CD, Kaufman KM, Harley JB, Atkinson JP (2011) Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. Genes Immun 12:270\u2013279","journal-title":"Genes Immun"},{"key":"7050_CR7","doi-asserted-by":"crossref","first-page":"40246","DOI":"10.1074\/jbc.M111.297903","volume":"286","author":"CD Orebaugh","year":"2011","unstructured":"Orebaugh CD, Fye JM, Harvey S, Hollis T, Perrino FW (2011) The TREX1 exonuclease R114H mutation in Aicardi-Goutieres syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. J Biol Chem 286:40246\u201340254","journal-title":"J Biol Chem"},{"key":"7050_CR8","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.1038\/ng2082","volume":"39","author":"A Richards","year":"2007","unstructured":"Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KR, de Vries B, Wan J, Kane MJ, Mamsa H, Sch\u00e4fer R, Stam AH, Haan J, de Jong PT, Storimans CW, van Schooneveld MJ, Oosterhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hodgkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RR, Baloh RW, Ferrari MD, Atkinson JP (2007) C-terminal truncations in human 3\u2032-5\u2032 DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet 39:1068\u20131070","journal-title":"Nat Genet"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-013-7050-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00415-013-7050-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-013-7050-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T19:23:15Z","timestamp":1559071395000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00415-013-7050-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,24]]},"references-count":8,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2013,8]]}},"alternative-id":["7050"],"URL":"https:\/\/doi.org\/10.1007\/s00415-013-7050-8","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,24]]}}}