{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T12:35:20Z","timestamp":1777379720286,"version":"3.51.4"},"reference-count":24,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171398"],"award-info":[{"award-number":["82171398"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271437"],"award-info":[{"award-number":["82271437"]}],"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","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2023,9]]},"DOI":"10.1016\/j.nmd.2023.07.002","type":"journal-article","created":{"date-parts":[[2023,7,7]],"date-time":"2023-07-07T12:12:10Z","timestamp":1688731930000},"page":"93-97","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Intrafamilial phenotypic heterogeneity in GIPC1-related oculopharyngodistal myopathy type 2: a case report"],"prefix":"10.1016","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9232-8844","authenticated-orcid":false,"given":"Xinyu","family":"Gu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kexin","family":"Jiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongyue","family":"Yue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xilu","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"Qiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mingshi","family":"Gao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chong","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chongbo","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenhua","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianying","family":"Xi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.nmd.2023.07.002_bib0001","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1097\/WCO.0000000000001089","article-title":"Oculopharyngodistal myopathy","volume":"35","author":"Yu","year":"2022","journal-title":"Curr Opin Neurol"},{"issue":"3","key":"10.1016\/j.nmd.2023.07.002_bib0002","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1212\/WNL.0b013e318207b043","article-title":"Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients","volume":"76","author":"Durmus","year":"2011","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.nmd.2023.07.002_bib0003","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1186\/s12883-022-02766-3","article-title":"NOTCH2NLC-related oculopharyngodistal myopathy type 3 complicated with focal segmental glomerular sclerosis: a case report","volume":"22","author":"Ji","year":"2022","journal-title":"BMC Neurol"},{"issue":"2","key":"10.1016\/j.nmd.2023.07.002_bib0004","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1001\/archneur.1977.00500140043007","article-title":"Oculopharyngodistal myopathy","volume":"34","author":"Satoyoshi","year":"1977","journal-title":"Arch Neurol"},{"issue":"8","key":"10.1016\/j.nmd.2023.07.002_bib0005","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1016\/S0960-8966(01)00227-9","article-title":"Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy","volume":"11","author":"Minami","year":"2001","journal-title":"Neuromuscul Disord"},{"issue":"8","key":"10.1016\/j.nmd.2023.07.002_bib0006","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1016\/j.nmd.2012.03.010","article-title":"The first Italian patient with oculopharyngodistal myopathy: case report and considerations on differential diagnosis","volume":"22","author":"Mignarri","year":"2012","journal-title":"Neuromuscul Disord"},{"issue":"2","key":"10.1016\/j.nmd.2023.07.002_bib0007","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/S0960-8966(98)00002-9","article-title":"Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy","volume":"8","author":"Uyama","year":"1998","journal-title":"Neuromuscul Disord"},{"issue":"8","key":"10.1016\/j.nmd.2023.07.002_bib0008","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"},{"issue":"2","key":"10.1016\/j.nmd.2023.07.002_bib0009","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1093\/brain\/awaa426","article-title":"5\u2032 UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy","volume":"144","author":"Xi","year":"2021","journal-title":"Brain"},{"issue":"6","key":"10.1016\/j.nmd.2023.07.002_bib0010","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1016\/j.ajhg.2020.04.011","article-title":"Expansion of GGC repeat in GIPC1 is associated with oculopharyngodistal myopathy","volume":"106","author":"Deng","year":"2020","journal-title":"Am J Hum Genet"},{"issue":"6","key":"10.1016\/j.nmd.2023.07.002_bib0011","doi-asserted-by":"crossref","first-page":"1819","DOI":"10.1093\/brain\/awab077","article-title":"The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3","volume":"144","author":"Yu","year":"2021","journal-title":"Brain"},{"issue":"1","key":"10.1016\/j.nmd.2023.07.002_bib0012","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1186\/s40478-020-01084-4","article-title":"CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations","volume":"8","author":"Ogasawara","year":"2020","journal-title":"Acta Neuropathol Commun"},{"issue":"3","key":"10.1016\/j.nmd.2023.07.002_bib0013","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/j.ajhg.2022.01.012","article-title":"The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4","volume":"109","author":"Yu","year":"2022","journal-title":"Am J Hum Genet"},{"issue":"3","key":"10.1016\/j.nmd.2023.07.002_bib0014","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/ana.26436","article-title":"GGC repeat expansion of RILPL1 is associated with oculopharyngodistal myopathy","volume":"92","author":"Zeng","year":"2022","journal-title":"Ann Neurol"},{"issue":"5","key":"10.1016\/j.nmd.2023.07.002_bib0015","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1136\/jmedgenet-2013-102021","article-title":"CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles","volume":"51","author":"Pretto","year":"2014","journal-title":"J Med Genet"},{"issue":"11","key":"10.1016\/j.nmd.2023.07.002_bib0016","doi-asserted-by":"crossref","first-page":"6049","DOI":"10.1007\/s00415-022-11272-y","article-title":"DNA hypermethylation of NOTCH2NLC in neuronal intranuclear inclusion disease: a case-control study","volume":"269","author":"Cao","year":"2022","journal-title":"J Neurol"},{"issue":"1","key":"10.1016\/j.nmd.2023.07.002_bib0017","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"},{"issue":"8","key":"10.1016\/j.nmd.2023.07.002_bib0018","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":"1","key":"10.1016\/j.nmd.2023.07.002_bib0022","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1186\/s40478-020-00945-2","article-title":"Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12","volume":"8","author":"Saito","year":"2020","journal-title":"Acta Neuropathol Commun"},{"issue":"24","key":"10.1016\/j.nmd.2023.07.002_bib0023","doi-asserted-by":"crossref","first-page":"e3394","DOI":"10.1212\/WNL.0000000000010945","article-title":"Identification of GGC repeat expansion in the NOTCH2NLC gene in amyotrophic lateral sclerosis","volume":"95","author":"Yuan","year":"2020","journal-title":"Neurology"},{"issue":"12","key":"10.1016\/j.nmd.2023.07.002_bib0019","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1136\/jnnp-2022-329772","article-title":"Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease","volume":"93","author":"Tian","year":"2022","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"Pt 12","key":"10.1016\/j.nmd.2023.07.002_bib0020","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"},{"issue":"1","key":"10.1016\/j.nmd.2023.07.002_bib0024","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1186\/s13148-021-01192-5","article-title":"Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing","volume":"13","author":"Fukuda","year":"2021","journal-title":"Clin Epigenet"},{"key":"10.1016\/j.nmd.2023.07.002_bib0025","doi-asserted-by":"crossref","unstructured":"Boivin M, Charlet-Berguerand N. Trinucleotide CGG repeat diseases: an expanding field of polyglycine proteins? Front Genet. 2022 Feb 28;13:843014. doi:10.3389\/fgene.2022.843014.","DOI":"10.3389\/fgene.2022.843014"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896623001700?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896623001700?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:13:41Z","timestamp":1760775221000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896623001700"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9]]},"references-count":24,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["S0960896623001700"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2023.07.002","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2023,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Intrafamilial phenotypic heterogeneity in GIPC1-related oculopharyngodistal myopathy type 2: a case report","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2023.07.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}