{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T23:55:19Z","timestamp":1792022119153,"version":"4.4.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2003,9,7]],"date-time":"2003-09-07T00:00:00Z","timestamp":1062892800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2003,10]]},"DOI":"10.1038\/ng1238","type":"journal-article","created":{"date-parts":[[2003,9,5]],"date-time":"2003-09-05T13:45:08Z","timestamp":1062769508000},"page":"125-127","source":"Crossref","is-referenced-by-count":298,"title":["Mutations in NHLRC1 cause progressive myoclonus epilepsy"],"prefix":"10.1038","volume":"35","author":[{"given":"Elayne M","family":"Chan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin J","family":"Young","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonarda","family":"Ianzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iulia","family":"Munteanu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaochu","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constantine C","family":"Christopoulos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuliano","family":"Avanzini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Elia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cameron A","family":"Ackerley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nebojsa J","family":"Jovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saeed","family":"Bohlega","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Andermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy A","family":"Rouleau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio V","family":"Delgado-Escueta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berge A","family":"Minassian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen W","family":"Scherer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2003,9,7]]},"reference":[{"key":"BFng1238_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/BF02863929","volume":"6","author":"GR Lafora","year":"1911","unstructured":"Lafora, G.R. & Gluck, B. Z. Ges. Neurol. Psychiat. 6, 1\u201314 (1911).","journal-title":"Z. Ges. Neurol. Psychiat."},{"key":"BFng1238_CR2","first-page":"199","volume":"89","author":"BA Minassian","year":"2002","unstructured":"Minassian, B.A. Adv. Neurol. 89, 199\u2013210 (2002).","journal-title":"Adv. Neurol."},{"key":"BFng1238_CR3","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1002\/1531-8249(199902)45:2<262::AID-ANA20>3.0.CO;2-9","volume":"45","author":"BA Minassian","year":"1999","unstructured":"Minassian, B.A. et al. Ann. Neurol. 45, 262\u2013265 (1999).","journal-title":"Ann. Neurol."},{"key":"BFng1238_CR4","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1038\/2470","volume":"20","author":"BA Minassian","year":"1998","unstructured":"Minassian, B.A. et al. Nat. Genet. 20, 171\u2013174 (1998).","journal-title":"Nat. Genet."},{"key":"BFng1238_CR5","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1136\/jmg.40.9.671","volume":"40","author":"EM Chan","year":"2003","unstructured":"Chan, E.M. et al. J. Med. Genet. 40, 671\u2013675 (2003).","journal-title":"J. Med. Genet."},{"key":"BFng1238_CR6","doi-asserted-by":"publisher","first-page":"R84","DOI":"10.1016\/S0960-9822(00)00287-6","volume":"10","author":"PS Freemont","year":"2000","unstructured":"Freemont, P.S. Curr. Biol. 10, R84\u2013R87 (2000).","journal-title":"Curr. Biol."},{"key":"BFng1238_CR7","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1016\/S0006-291X(03)00245-6","volume":"302","author":"S Hatakeyama","year":"2003","unstructured":"Hatakeyama, S. & Nakayama, K.I. Biochem. Biophys. Res. Commun. 302, 635\u2013645 (2003).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"BFng1238_CR8","doi-asserted-by":"publisher","first-page":"474","DOI":"10.1016\/S0968-0004(98)01299-7","volume":"23","author":"FJ Slack","year":"1998","unstructured":"Slack, F.J. & Ruvkun, G. Trends Biochem. Sci. 23, 474\u2013475 (1998).","journal-title":"Trends Biochem. Sci."},{"key":"BFng1238_CR9","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1016\/S0165-0173(99)00003-X","volume":"29","author":"JB Cavanagh","year":"1999","unstructured":"Cavanagh, J.B. Brain Res. Brain Res. Rev. 29, 265\u2013295 (1999).","journal-title":"Brain Res. Brain Res. Rev."},{"key":"BFng1238_CR10","doi-asserted-by":"publisher","first-page":"2251","DOI":"10.1093\/oxfordjournals.hmg.a018916","volume":"9","author":"S Ganesh","year":"2000","unstructured":"Ganesh, S. et al. Hum. Mol. Genet. 9, 2251\u20132261 (2000).","journal-title":"Hum. Mol. Genet."},{"key":"BFng1238_CR11","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1002\/1531-8249(20010201)49:2<271::AID-ANA52>3.0.CO;2-D","volume":"49","author":"BA Minassian","year":"2001","unstructured":"Minassian, B.A. et al. Ann. Neurol. 49, 271\u2013275 (2001).","journal-title":"Ann. Neurol."},{"key":"BFng1238_CR12","doi-asserted-by":"publisher","first-page":"1134","DOI":"10.1006\/bbrc.2002.6590","volume":"291","author":"S Ganesh","year":"2002","unstructured":"Ganesh, S., Suzuki, T. & Yamakawa, K. Biochem. Biophys. Res. Commun. 291, 1134\u20131137 (2002).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"BFng1238_CR13","doi-asserted-by":"publisher","first-page":"1251","DOI":"10.1093\/hmg\/11.11.1251","volume":"11","author":"S Ganesh","year":"2002","unstructured":"Ganesh, S. et al. Hum. Mol. Genet. 11, 1251\u20131262 (2002).","journal-title":"Hum. Mol. Genet."},{"key":"BFng1238_CR14","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1016\/S0888-7543(03)00094-6","volume":"81","author":"L Ianzano","year":"2003","unstructured":"Ianzano, L., Zhao, X.C., Minassian, B.A. & Scherer, S.W. Genomics 81, 579\u2013587 (2003).","journal-title":"Genomics"},{"key":"BFng1238_CR15","doi-asserted-by":"crossref","unstructured":"Ganesh, S. et al. Hum. Mol. Genet. advance online publication, 29 July 2003 (doi:10.1093\/hmg\/ddg253).","DOI":"10.1093\/hmg\/ddg253"}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng1238.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1238","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1238.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T21:22:31Z","timestamp":1684444951000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng1238"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,9,7]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,10]]}},"alternative-id":["BFng1238"],"URL":"https:\/\/doi.org\/10.1038\/ng1238","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,9,7]]}}}