{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T15:37:19Z","timestamp":1776526639308,"version":"3.51.2"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2023,2,21]],"date-time":"2023-02-21T00:00:00Z","timestamp":1676937600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,2,21]],"date-time":"2023-02-21T00:00:00Z","timestamp":1676937600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2023,5]]},"DOI":"10.1007\/s10072-023-06688-x","type":"journal-article","created":{"date-parts":[[2023,2,21]],"date-time":"2023-02-21T21:29:26Z","timestamp":1677014966000},"page":"1769-1772","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Autonomic dysfunction-dominant phenotype in a Chinese family with biallelic GGC repeat expansions in NOTCH2NLC"],"prefix":"10.1007","volume":"44","author":[{"given":"Bin","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Jing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gehong","family":"Dong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuzhi","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cuiping","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yumei","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"An","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongfei","family":"Tai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Songtao","family":"Niu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xingao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hua","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0053-3451","authenticated-orcid":false,"given":"Zaiqiang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,2,21]]},"reference":[{"key":"6688_CR1","doi-asserted-by":"publisher","first-page":"3170","DOI":"10.1093\/brain\/aww249","volume":"139","author":"J Sone","year":"2016","unstructured":"Sone J, Mori K, Inagaki T et al (2016) Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. Brain 139:3170\u20133186","journal-title":"Brain"},{"key":"6688_CR2","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1038\/s41588-019-0459-y","volume":"51","author":"J Sone","year":"2019","unstructured":"Sone J, Mitsuhashi S, Fujita A et al (2019) Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet 51:1215\u20131221","journal-title":"Nat Genet"},{"key":"6688_CR3","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1186\/s40478-020-01084-4","volume":"8","author":"M Ogasawara","year":"2020","unstructured":"Ogasawara M, Iida A, Kumutpongpanich T et al (2020) CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations. Acta Neuropathol Commun 8:204","journal-title":"Acta Neuropathol Commun"},{"key":"6688_CR4","doi-asserted-by":"publisher","first-page":"1819","DOI":"10.1093\/brain\/awab077","volume":"144","author":"J Yu","year":"2021","unstructured":"Yu J, Deng J, Guo X et al (2021) The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3. Brain 144:1819\u20131832","journal-title":"Brain"},{"key":"6688_CR5","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1136\/jnnp-2022-329772","volume":"93","author":"Y Tian","year":"2022","unstructured":"Tian Y, Zhou L, Gao J et al (2022) Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease. J Neurol Neurosurg Psychiatry 93:1289\u20131298","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"6688_CR6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2022.110469","volume":"114","author":"S Kameyama","year":"2022","unstructured":"Kameyama S, Mizuguchi T, Doi H et al (2022) Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype. Genomics 114:110469","journal-title":"Genomics"},{"key":"6688_CR7","doi-asserted-by":"publisher","first-page":"3187","DOI":"10.1007\/s00415-020-09945-7","volume":"267","author":"H Liang","year":"2020","unstructured":"Liang H, Wang B, Li Q et al (2020) Clinical and pathological features in adult-onset NIID patients with cortical enhancement. J Neurol 267:3187\u20133198","journal-title":"J Neurol"},{"key":"6688_CR8","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1002\/acn3.51021","volume":"7","author":"P Fang","year":"2020","unstructured":"Fang P, Yu Y, Yao S et al (2020) Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy. Ann Clin Transl Neurol 7:517\u2013526","journal-title":"Ann Clin Transl Neurol"},{"key":"6688_CR9","doi-asserted-by":"publisher","first-page":"1319","DOI":"10.1001\/archneur.59.8.1319","volume":"59","author":"R Zannolli","year":"2002","unstructured":"Zannolli R, Gilman S, Rossi S et al (2002) Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration. Arch Neurol 59:1319\u20131326","journal-title":"Arch Neurol"},{"key":"6688_CR10","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1016\/j.jns.2018.07.012","volume":"392","author":"M Nakamura","year":"2018","unstructured":"Nakamura M, Ueki S, Kubo M et al (2018) Two cases of sporadic adult-onset neuronal intranuclear inclusion disease preceded by urinary disturbance for many years. J Neurol Sci 392:89\u201393","journal-title":"J Neurol Sci"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-023-06688-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-023-06688-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-023-06688-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,7]],"date-time":"2023-12-07T10:14:07Z","timestamp":1701944047000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-023-06688-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,21]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["6688"],"URL":"https:\/\/doi.org\/10.1007\/s10072-023-06688-x","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2,21]]},"assertion":[{"value":"28 August 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 February 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 February 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The research was approved by the ethics committee of the Beijing Tiantan Hospital.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}