{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T09:25:34Z","timestamp":1763457934712,"version":"build-2065373602"},"reference-count":22,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100012552","name":"Clinical and Rehabilitation Research Foundation of Xiangya hospital - Beidaweiming","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012552","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004735","name":"Natural Science Foundation of\u00a0Hunan Province","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012830","name":"Development and Reform Commission of Hunan Province","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012830","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurobiology of Aging"],"published-print":{"date-parts":[[2021,1]]},"DOI":"10.1016\/j.neurobiolaging.2020.07.008","type":"journal-article","created":{"date-parts":[[2020,7,15]],"date-time":"2020-07-15T12:26:36Z","timestamp":1594815996000},"page":"144.e5-144.e7","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"special_numbering":"C","title":["No genetic evidence for the involvement of GGC repeat expansions of the NOTCH2NLC gene in Chinese patients with multiple system atrophy"],"prefix":"10.1016","volume":"97","author":[{"given":"Keqin","family":"Xu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linlin","family":"Wan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhao","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunrong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huirong","family":"Peng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuan","family":"Hou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuting","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"Qiu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beisha","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2812-4120","authenticated-orcid":false,"given":"Hong","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.neurobiolaging.2020.07.008_bib1","doi-asserted-by":"crossref","DOI":"10.1016\/j.neurobiolaging.2014.09.010","article-title":"Mutation scanning of the COQ2 gene in ethnic Chinese patients with multiple-system atrophy","volume":"36","author":"Chen","year":"2015","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neurobiolaging.2020.07.008_bib2","doi-asserted-by":"crossref","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.\u00a0Med. Genet."},{"key":"10.1016\/j.neurobiolaging.2020.07.008_bib3","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1056\/NEJMra1311488","article-title":"Multiple-system atrophy","volume":"372","author":"Fanciulli","year":"2015","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.neurobiolaging.2020.07.008_bib4","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1002\/acn3.51021","article-title":"Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy","volume":"7","author":"Fang","year":"2020","journal-title":"Ann. Clin. Transl Neurol."},{"key":"10.1016\/j.neurobiolaging.2020.07.008_bib5","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1212\/01.wnl.0000324625.00404.15","article-title":"Second consensus statement on the diagnosis of multiple system atrophy","volume":"71","author":"Gilman","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.neurobiolaging.2020.07.008_bib6","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/s12881-017-0519-z","article-title":"Birt-Hogg-Dube syndrome in two Chinese families with mutations in the FLCN gene","volume":"19","author":"Hou","year":"2018","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.neurobiolaging.2020.07.008_bib7","doi-asserted-by":"crossref","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."},{"key":"10.1016\/j.neurobiolaging.2020.07.008_bib8","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1007\/s00401-010-0672-3","article-title":"Papp-Lantos inclusions and the pathogenesis of multiple system atrophy: an update","volume":"119","author":"Jellinger","year":"2010","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.neurobiolaging.2020.07.008_bib9","doi-asserted-by":"crossref","first-page":"142.e1","DOI":"10.1016\/j.neurobiolaging.2020.01.010","article-title":"Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementias","volume":"89","author":"Jiao","year":"2020","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neurobiolaging.2020.07.008_bib10","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1038\/nrneurol.2017.26","article-title":"Multiple system atrophy: insights into a rare and debilitating movement disorder","volume":"13","author":"Krismer","year":"2017","journal-title":"Nat. Rev. Neurol."},{"key":"10.1016\/j.neurobiolaging.2020.07.008_bib11","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1016\/S1474-4422(15)00058-7","article-title":"Natural history of multiple system atrophy in the USA: a prospective cohort study","volume":"14","author":"Low","year":"2015","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neurobiolaging.2020.07.008_bib12","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1056\/NEJMoa1212115","article-title":"Mutations in COQ2 in familial and sporadic multiple-system atrophy","volume":"369","year":"2013","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.neurobiolaging.2020.07.008_bib13","doi-asserted-by":"crossref","first-page":"144037","DOI":"10.1016\/j.gene.2019.144037","article-title":"Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy","volume":"716","author":"Procopio","year":"2019","journal-title":"Gene"},{"key":"10.1016\/j.neurobiolaging.2020.07.008_bib14","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1002\/ana.21685","article-title":"SNCA variants are associated with increased risk for multiple system atrophy","volume":"65","author":"Scholz","year":"2009","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neurobiolaging.2020.07.008_bib15","doi-asserted-by":"crossref","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":"Pt 12","key":"10.1016\/j.neurobiolaging.2020.07.008_bib16","doi-asserted-by":"crossref","first-page":"3170","DOI":"10.1093\/brain\/aww249","article-title":"Clinicopathological features of adult-onset neuronal intranuclear inclusion disease","volume":"139","author":"Sone","year":"2016","journal-title":"Brain"},{"key":"10.1016\/j.neurobiolaging.2020.07.008_bib17","doi-asserted-by":"crossref","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"},{"key":"10.1016\/j.neurobiolaging.2020.07.008_bib18","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1046\/j.1440-1789.2003.00524.x","article-title":"Neuronal intranuclear hyaline inclusion disease","volume":"23","author":"Takahashi-Fujigasaki","year":"2003","journal-title":"Neuropathology"},{"issue":"Suppl 1","key":"10.1016\/j.neurobiolaging.2020.07.008_bib19","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1111\/ggi.12725","article-title":"Adult-onset neuronal intranuclear hyaline inclusion disease is not rare in older adults","volume":"16","author":"Takahashi-Fujigasaki","year":"2016","journal-title":"Geriatr. Gerontol. Int."},{"key":"10.1016\/j.neurobiolaging.2020.07.008_bib20","doi-asserted-by":"crossref","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."},{"key":"10.1016\/j.neurobiolaging.2020.07.008_bib21","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/s00401-004-0935-y","article-title":"The role of alpha-synuclein in the pathogenesis of multiple system atrophy","volume":"109","author":"Wenning","year":"2005","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.neurobiolaging.2020.07.008_bib22","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1080\/00207454.2017.1418346","article-title":"Association of TNF-alpha rs1799964 and IL-1beta rs16944 polymorphisms with multiple system atrophy in Chinese Han population","volume":"128","author":"Zhou","year":"2018","journal-title":"Int. J. Neurosci."}],"container-title":["Neurobiology of Aging"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0197458020302244?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0197458020302244?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T11:36:51Z","timestamp":1759318611000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0197458020302244"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1]]},"references-count":22,"alternative-id":["S0197458020302244"],"URL":"https:\/\/doi.org\/10.1016\/j.neurobiolaging.2020.07.008","relation":{},"ISSN":["0197-4580"],"issn-type":[{"type":"print","value":"0197-4580"}],"subject":[],"published":{"date-parts":[[2021,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"No genetic evidence for the involvement of GGC repeat expansions of the NOTCH2NLC gene in Chinese patients with multiple system atrophy","name":"articletitle","label":"Article Title"},{"value":"Neurobiology of Aging","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neurobiolaging.2020.07.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}