{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T23:29:22Z","timestamp":1779233362091,"version":"3.51.4"},"reference-count":9,"publisher":"Oxford University Press (OUP)","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,8,1]]},"DOI":"10.5665\/sleep.2898","type":"journal-article","created":{"date-parts":[[2013,7,31]],"date-time":"2013-07-31T19:57:51Z","timestamp":1375300671000},"page":"1257-1259","source":"Crossref","is-referenced-by-count":25,"title":["A Novel <i>de novo<\/i> Exon 21 DNMT1 Mutation Causes Cerebellar Ataxia, Deafness, and Narcolepsy in a Brazilian Patient"],"prefix":"10.1093","volume":"36","author":[{"given":"Jos\u00e9 Luiz","family":"Pedroso","sequence":"first","affiliation":[{"name":"Department of Neurology, Ataxia Unit \u2013 Universidade Federal de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orlando Graziani","family":"Povoas Barsottini","sequence":"additional","affiliation":[{"name":"Department of Neurology, Ataxia Unit \u2013 Universidade Federal de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Lin","sequence":"additional","affiliation":[{"name":"Center for Sleep Sciences and Medicine"},{"name":"Department of Psychiatry, Stanford University School of Medicine, Palo Alto, CA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atle","family":"Melberg","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Neurology, Uppsala University, Uppsala, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Acary S. B.","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Department of Neurology, Ataxia Unit \u2013 Universidade Federal de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuel","family":"Mignot","sequence":"additional","affiliation":[{"name":"Center for Sleep Sciences and Medicine"},{"name":"Department of Psychiatry, Stanford University School of Medicine, Palo Alto, CA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2013,8,1]]},"reference":[{"key":"key\n\t\t\t\t2018112108440140800_B1","first-page":"119","article-title":"Autosomal dominant cerebellar ataxia deafness and narcolepsy","volume":"134","author":"Melberg","year":"1995","journal-title":"J Neurol Sci"},{"key":"key\n\t\t\t\t2018112108440140800_B2","first-page":"2190","article-title":"Neuroimaging study in autosomal dominant cerebellar ataxia, deafness, and narcolepsy","volume":"53","author":"Melberg","year":"1999","journal-title":"Neurology"},{"key":"key\n\t\t\t\t2018112108440140800_B3","first-page":"2205","article-title":"Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy","volume":"21","author":"Winkelmann","year":"2012","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t2018112108440140800_B4","first-page":"8919","article-title":"Twists and turns of DNA methylation","volume":"108","author":"Frauer","year":"2011","journal-title":"Proc Natl Acad Sci U S A"},{"key":"key\n\t\t\t\t2018112108440140800_B5","first-page":"595","article-title":"Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss","volume":"43","author":"Klein","year":"2011","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t2018112108440140800_B6","first-page":"357","article-title":"Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study","volume":"6","author":"Hojo","year":"1999","journal-title":"Eur J Neurol"},{"key":"key\n\t\t\t\t2018112108440140800_B7","first-page":"16619","article-title":"Epigenetic regulation of motor neuron cell death through DNA methylation","volume":"31","author":"Chestnut","year":"2011","journal-title":"J Neurosci"},{"key":"key\n\t\t\t\t2018112108440140800_B8","first-page":"2875","article-title":"DNA hypomethylation restricted to the murine forebrain induces cortical degeneration and impairs postnatal neuronal maturation","volume":"18","author":"Hutnick","year":"2009","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t2018112108440140800_B9","first-page":"136","article-title":"Hypocretin deficiency in familial symptomatic narcolepsy","volume":"49","author":"Melberg","year":"2001","journal-title":"Ann Neurol"}],"container-title":["Sleep"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/sleep\/article-pdf\/36\/8\/1257\/26661633\/aasm.36.8.1257.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,11,21]],"date-time":"2018-11-21T22:20:45Z","timestamp":1542838845000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/sleep\/article\/36\/8\/1257\/2453986"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,1]]},"references-count":9,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2013,8,1]]},"published-print":{"date-parts":[[2013,8,1]]}},"URL":"https:\/\/doi.org\/10.5665\/sleep.2898","relation":{},"ISSN":["0161-8105","1550-9109"],"issn-type":[{"value":"0161-8105","type":"print"},{"value":"1550-9109","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2013,8]]},"published":{"date-parts":[[2013,8,1]]}}}