{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T13:22:37Z","timestamp":1782739357590,"version":"3.54.5"},"reference-count":11,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Neurophysiology"],"published-print":{"date-parts":[[2024,2]]},"DOI":"10.1016\/j.clinph.2023.12.010","type":"journal-article","created":{"date-parts":[[2023,12,22]],"date-time":"2023-12-22T12:05:02Z","timestamp":1703246702000},"page":"56-58","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["Oculomotor features in SCA27B patients"],"prefix":"10.1016","volume":"158","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2256-0482","authenticated-orcid":false,"given":"Diego","family":"Lopergolo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Bargagli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Satolli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Barghigiani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Mignarri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olimpia","family":"Musumeci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo","family":"Maria Santorelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Rufa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.clinph.2023.12.010_b0005","doi-asserted-by":"crossref","DOI":"10.1093\/braincomms\/fcad239","article-title":"Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients","volume":"5","author":"Ashton","year":"2023","journal-title":"Brain Commun"},{"key":"10.1016\/j.clinph.2023.12.010_b0010","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-023-36654-8","article-title":"Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia\/spinocerebellar ataxia 27B","volume":"13","author":"Bonnet","year":"2023","journal-title":"Sci Rep"},{"key":"10.1016\/j.clinph.2023.12.010_b0015","doi-asserted-by":"crossref","DOI":"10.1038\/s41431-022-01197-5","article-title":"Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia","volume":"31","author":"Ceroni","year":"2023","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.clinph.2023.12.010_b0020","doi-asserted-by":"crossref","DOI":"10.1007\/s10072-015-2157-6","article-title":"Exercise-induced downbeat nystagmus in a Korean family with a nonsense mutation in CACNA1A","volume":"36","author":"Choi","year":"2015","journal-title":"Neurol Sci"},{"key":"10.1016\/j.clinph.2023.12.010_b0025","doi-asserted-by":"crossref","DOI":"10.1007\/s12311-020-01154-2","article-title":"Upward gaze palsy: a valuable sign to distinguish spinocerebellar ataxias","volume":"19","author":"Franklin","year":"2020","journal-title":"Cerebellum"},{"key":"10.1016\/j.clinph.2023.12.010_b0030","doi-asserted-by":"crossref","unstructured":"Leigh RJ, Zee DS. The Neurology of Eye Movements. Oxford University Press; 2015. https:\/\/doi.org\/10.1093\/med\/9780199969289.001.0001.","DOI":"10.1093\/med\/9780199969289.001.0001"},{"key":"10.1016\/j.clinph.2023.12.010_b0035","doi-asserted-by":"crossref","DOI":"10.2170\/jjphysiol.41.351","article-title":"Cerebellar control of saccadic eye movements: its neural mechanisms and pathways","volume":"41","author":"Noda","year":"1991","journal-title":"Jpn J Physiol"},{"key":"10.1016\/j.clinph.2023.12.010_b0040","doi-asserted-by":"crossref","DOI":"10.1056\/NEJMoa2207406","article-title":"Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia","volume":"388","author":"Pellerin","year":"2023","journal-title":"N Engl J Med"},{"key":"10.1016\/j.clinph.2023.12.010_b0045","doi-asserted-by":"crossref","DOI":"10.1007\/s12311-020-01113-x","article-title":"A variation in FGF14 is associated with downbeat nystagmus in a genome-wide association study","volume":"19","author":"Strupp","year":"2020","journal-title":"Cerebellum"},{"key":"10.1016\/j.clinph.2023.12.010_b0050","doi-asserted-by":"crossref","first-page":"4144","DOI":"10.1093\/brain\/awad157","article-title":"GAA- FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response","volume":"146","author":"Wilke","year":"2023","journal-title":"Brain"},{"key":"10.1016\/j.clinph.2023.12.010_b0055","doi-asserted-by":"crossref","DOI":"10.1093\/brain\/awac050","article-title":"Different saccadic profile in bulbar versus spinal-onset amyotrophic lateral sclerosis","volume":"146","author":"Zaino","year":"2023","journal-title":"Brain"}],"container-title":["Clinical Neurophysiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1388245723008076?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1388245723008076?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T12:31:37Z","timestamp":1761395497000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1388245723008076"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2]]},"references-count":11,"alternative-id":["S1388245723008076"],"URL":"https:\/\/doi.org\/10.1016\/j.clinph.2023.12.010","relation":{},"ISSN":["1388-2457"],"issn-type":[{"value":"1388-2457","type":"print"}],"subject":[],"published":{"date-parts":[[2024,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Oculomotor features in SCA27B patients","name":"articletitle","label":"Article Title"},{"value":"Clinical Neurophysiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clinph.2023.12.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}