{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T03:13:38Z","timestamp":1790565218668,"version":"4.1.0"},"reference-count":10,"publisher":"American Medical Association (AMA)","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Neurol"],"published-print":{"date-parts":[[2020,12,1]]},"DOI":"10.1001\/jamaneurol.2020.3023","type":"journal-article","created":{"date-parts":[[2020,8,24]],"date-time":"2020-08-24T11:31:37Z","timestamp":1598268697000},"page":"1559","source":"Crossref","is-referenced-by-count":93,"title":["Association of\n                    <i>NOTCH2NLC<\/i>\n                    Repeat Expansions With Parkinson Disease"],"prefix":"10.1001","volume":"77","author":[{"given":"Dongrui","family":"Ma","sequence":"first","affiliation":[{"name":"Department of Neurology, Singapore General Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi Jayne","family":"Tan","sequence":"additional","affiliation":[{"name":"National Neuroscience Institute, Department of Neurology, Tan Tock Seng Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adeline S. L.","family":"Ng","sequence":"additional","affiliation":[{"name":"National Neuroscience Institute, Department of Neurology, Tan Tock Seng Hospital, Singapore"},{"name":"Neuroscience and Behavioural Disorders, Duke-NUS Medical School, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen L.","family":"Ong","sequence":"additional","affiliation":[{"name":"Department of Clinical Translational Research, Singapore General Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiying","family":"Sim","sequence":"additional","affiliation":[{"name":"Department of Clinical Translational Research, Singapore General Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weng Khong","family":"Lim","sequence":"additional","affiliation":[{"name":"SingHealth Duke-NUS Institute of Precision Medicine, Singapore"},{"name":"Cancer and Stem Cell Biology Program, Duke-NUS Medical School, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing Xian","family":"Teo","sequence":"additional","affiliation":[{"name":"SingHealth Duke-NUS Institute of Precision Medicine, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ebonne Y. L.","family":"Ng","sequence":"additional","affiliation":[{"name":"National Neuroscience Institute, Department of Neurology, Singapore General Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ee-Chien","family":"Lim","sequence":"additional","affiliation":[{"name":"National Neuroscience Institute, Department of Neurology, Singapore General Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ee-Wei","family":"Lim","sequence":"additional","affiliation":[{"name":"National Neuroscience Institute, Department of Neurology, Singapore General Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling-Ling","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Radiology, Singapore General Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louis C. S.","family":"Tan","sequence":"additional","affiliation":[{"name":"National Neuroscience Institute, Department of Neurology, Tan Tock Seng Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhao","family":"Yi","sequence":"additional","affiliation":[{"name":"Department of Clinical Translational Research, Singapore General Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eng-King","family":"Tan","sequence":"additional","affiliation":[{"name":"Neuroscience and Behavioural Disorders, Duke-NUS Medical School, Singapore"},{"name":"National Neuroscience Institute, Department of Neurology, Singapore General Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10","reference":[{"issue":"8","key":"nbr200003r1","doi-asserted-by":"publisher","first-page":"1222","DOI":"10.1038\/s41588-019-0458-z","article-title":"Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.","volume":"51","author":"Ishiura","year":"2019","journal-title":"Nat Genet"},{"issue":"8","key":"nbr200003r2","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1038\/s41588-019-0459-y","article-title":"Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.","volume":"51","author":"Sone","year":"2019","journal-title":"Nat Genet"},{"issue":"11","key":"nbr200003r3","doi-asserted-by":"publisher","first-page":"758","DOI":"10.1136\/jmedgenet-2019-106268","article-title":"Long-read sequencing identified repeat expansions in the 5'UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease.","volume":"56","author":"Deng","year":"2019","journal-title":"J Med Genet"},{"issue":"1","key":"nbr200003r4","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1016\/j.ajhg.2019.05.013","article-title":"Expansion of human-specific GGC repeat in neuronal intranuclear inclusion disease-related disorders.","volume":"105","author":"Tian","year":"2019","journal-title":"Am J Hum Genet"},{"issue":"6","key":"nbr200003r5","doi-asserted-by":"publisher","first-page":"962","DOI":"10.1002\/ana.v86.6","article-title":"GGC repeat expansion of NOTCH2NLC in adult patients with leukoencephalopathy.","volume":"86","author":"Okubo","year":"2019","journal-title":"Ann Neurol"},{"issue":"1","key":"nbr200003r6","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1093\/brain\/awz372","article-title":"Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor.","volume":"143","author":"Sun","year":"2020","journal-title":"Brain"},{"issue":"4","key":"nbr200003r7","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1001\/jamaneurol.2013.6233","article-title":"Parkinson disease subtypes.","volume":"71","author":"Thenganatt","year":"2014","journal-title":"JAMA Neurol"},{"key":"nbr200003r8","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1186\/s40673-016-0058-y","article-title":"Expansion, mosaicism and interruption: mechanisms of the CAG repeat mutation in spinocerebellar ataxia type 1.","volume":"3","author":"Kraus-Perrotta","year":"2016","journal-title":"Cerebellum Ataxias"},{"issue":"11","key":"nbr200003r9","doi-asserted-by":"publisher","first-page":"1272","DOI":"10.1038\/ejhg.2013.32","article-title":"Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability.","volume":"21","author":"McFarland","year":"2013","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"nbr200003r10","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1001\/archneur.61.1.35","article-title":"The parkinsonian phenotype of spinocerebellar ataxia type 2.","volume":"61","author":"Lu","year":"2004","journal-title":"Arch Neurol"}],"container-title":["JAMA Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jamanetwork.com\/journals\/jamaneurology\/articlepdf\/2769859\/jamaneurology_ma_2020_br_200003_1607448099.87276.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,12,14]],"date-time":"2020-12-14T13:39:49Z","timestamp":1607953189000},"score":1,"resource":{"primary":{"URL":"https:\/\/jamanetwork.com\/journals\/jamaneurology\/fullarticle\/2769859"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,1]]},"references-count":10,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2020,12,1]]}},"URL":"https:\/\/doi.org\/10.1001\/jamaneurol.2020.3023","relation":{},"ISSN":["2168-6149"],"issn-type":[{"value":"2168-6149","type":"print"}],"subject":[],"published":{"date-parts":[[2020,12,1]]}}}