{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T11:12:52Z","timestamp":1740136372105,"version":"3.37.3"},"reference-count":4,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T00:00:00Z","timestamp":1697673600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T00:00:00Z","timestamp":1697673600000},"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":[[2024,3]]},"DOI":"10.1007\/s10072-023-07104-0","type":"journal-article","created":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T00:02:16Z","timestamp":1697673736000},"page":"1283-1286","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant"],"prefix":"10.1007","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7750-3624","authenticated-orcid":false,"given":"Davide","family":"Norata","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Alonge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia","family":"Grillo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Cal\u00ec","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Sturnio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonino","family":"Lupica","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanessa","family":"Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo","family":"Brighina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Di Stefano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,10,19]]},"reference":[{"key":"7104_CR1","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1007\/s12311-022-01395-3","volume":"22","author":"A Chrysanthou","year":"2022","unstructured":"Chrysanthou A, Ververis A, Christodoulou K (2022) ANO10 function in health and disease. Cerebellum Lond Engl 22:447\u2013467. https:\/\/doi.org\/10.1007\/s12311-022-01395-3","journal-title":"Cerebellum Lond Engl"},{"issue":"2","key":"7104_CR2","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1007\/s00415-018-9141-z","volume":"266","author":"L Nanetti","year":"2019","unstructured":"Nanetti L, Sarto E, Castaldo A et al (2019) ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype. J Neurol 266(2):378\u2013385. https:\/\/doi.org\/10.1007\/s00415-018-9141-z","journal-title":"J Neurol"},{"issue":"7685","key":"7104_CR3","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1038\/nature24652","volume":"552","author":"C Paulino","year":"2017","unstructured":"Paulino C, Kalienkova V, Lam AKM, Neldner Y, Dutzler R (2017) Activation mechanism of the calcium-activated chloride channel TMEM16A revealed by cryo-EM. Nature 552(7685):421\u2013425. https:\/\/doi.org\/10.1038\/nature24652","journal-title":"Nature"},{"key":"7104_CR4","doi-asserted-by":"publisher","first-page":"71","DOI":"10.3389\/fneur.2017.00071","volume":"8","author":"F Bodranghien","year":"2017","unstructured":"Bodranghien F, Oulad Ben Taib N, Van Maldergem L, Manto M (2017) A postural tremor highly responsive to transcranial cerebello-cerebral DCS in ARCA3. Front Neurol 8:71. https:\/\/doi.org\/10.3389\/fneur.2017.00071","journal-title":"Front Neurol"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-023-07104-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-023-07104-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-023-07104-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,10]],"date-time":"2024-02-10T02:05:27Z","timestamp":1707530727000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-023-07104-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,19]]},"references-count":4,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["7104"],"URL":"https:\/\/doi.org\/10.1007\/s10072-023-07104-0","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"type":"print","value":"1590-1874"},{"type":"electronic","value":"1590-3478"}],"subject":[],"published":{"date-parts":[[2023,10,19]]},"assertion":[{"value":"22 June 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 September 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 October 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 study was performed in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards. The participant has consented to the submission of the case report to the journal.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval and informed consent."}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}