{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T01:39:46Z","timestamp":1783042786183,"version":"3.54.6"},"reference-count":11,"publisher":"Walter de Gruyter GmbH","issue":"4","license":[{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,1,13]]},"DOI":"10.2478\/jtim-2022-0047","type":"journal-article","created":{"date-parts":[[2023,1,13]],"date-time":"2023-01-13T08:16:44Z","timestamp":1673597804000},"page":"373-375","source":"Crossref","is-referenced-by-count":2,"title":["Noted tension headache, anxiety, and depression in a Chinese patient with spinocerebellar ataxia, autosomal recessive 10 caused by a novel anoctamin 10 mutation"],"prefix":"10.2478","volume":"10","author":[{"given":"Xiaoxi","family":"Ma","sequence":"first","affiliation":[{"name":"Department of Neurology, Huashan Hospital, Fudan University , Shanghai 200040 , China"},{"name":"National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University , Shanghai 200040 , China"},{"name":"National Center for Neurological Disorders, Huashan Hospital, Fudan University , Shanghai 200040 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keliang","family":"Chen","sequence":"additional","affiliation":[{"name":"National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University , Shanghai 200040 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenxu","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Neurology, Huashan Hospital, Fudan University , Shanghai 200040 , China"},{"name":"National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University , Shanghai 200040 , China"},{"name":"National Center for Neurological Disorders, Huashan Hospital, Fudan University , Shanghai 200040 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qianhua","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Neurology, Huashan Hospital, Fudan University , Shanghai 200040 , China"},{"name":"National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University , Shanghai 200040 , China"},{"name":"National Center for Neurological Disorders, Huashan Hospital, Fudan University , Shanghai 200040 , China"},{"name":"MOE Frontiers Center for Brain Science, Fudan University , Shanghai 200040 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2023,1,13]]},"reference":[{"key":"2023042508092707425_j_jtim-2022-0047_ref_001","doi-asserted-by":"crossref","unstructured":"Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, et al. Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet 2010;87:813\u20139.","DOI":"10.1016\/j.ajhg.2010.10.015"},{"key":"2023042508092707425_j_jtim-2022-0047_ref_002","doi-asserted-by":"crossref","unstructured":"Benarroch EE. Anoctamins (TMEM16 proteins): Functions and involvement in neurologic disease. Neurology 2017;89:722\u20139.","DOI":"10.1212\/WNL.0000000000004246"},{"key":"2023042508092707425_j_jtim-2022-0047_ref_003","doi-asserted-by":"crossref","unstructured":"Petkovic M, Oses-Prieto J, Burlingame A, Jan LY, Jan YN. TMEM16K is an interorganelle regulator of endosomal sorting. Nat Commun 2020;11:3298.","DOI":"10.1038\/s41467-020-17016-8"},{"key":"2023042508092707425_j_jtim-2022-0047_ref_004","doi-asserted-by":"crossref","unstructured":"Kasumu A, Bezprozvanny I. Deranged Calcium Signaling in Purkinje Cells and Pathogenesis in Spinocerebellar Ataxia 2 (SCA2) and Other Ataxias. Cerebellum 2010;11:630\u20139.","DOI":"10.1007\/s12311-010-0182-9"},{"key":"2023042508092707425_j_jtim-2022-0047_ref_005","doi-asserted-by":"crossref","unstructured":"Soong, Morrison Patrick. Spinocerebellar ataxias. Handb Clin Neurol 2018;155:143\u201374.","DOI":"10.1016\/B978-0-444-64189-2.00010-X"},{"key":"2023042508092707425_j_jtim-2022-0047_ref_006","doi-asserted-by":"crossref","unstructured":"Sailer A, Houlden H. Recent Advances in the Genetics of Cerebellar Ataxias. Curr Neurol Neurosci Rep 2012;12:227\u201336.","DOI":"10.1007\/s11910-012-0267-6"},{"key":"2023042508092707425_j_jtim-2022-0047_ref_007","doi-asserted-by":"crossref","unstructured":"Maruyama H, Morino H, Miyamoto R, Murakami N, Hamano T, Kawakami H. Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia. Clin Genet 2014;85:296\u20137.","DOI":"10.1111\/cge.12140"},{"key":"2023042508092707425_j_jtim-2022-0047_ref_008","doi-asserted-by":"crossref","unstructured":"Yang SL, Chen SF, Jiao YQ, Dong ZY, Dong Q, Han X. Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family. J Clin Neurol 2020;16:333\u20135.","DOI":"10.3988\/jcn.2020.16.2.333"},{"key":"2023042508092707425_j_jtim-2022-0047_ref_009","unstructured":"Zhang L, Lyu P, Zhang X, Dan T. Clinical and genetic phenotypes of an autosomal recessive spinocerebellar ataxia-10 patient due to ANO10 gene mutations. Chin J Neurol 2021;54:1256\u201360."},{"key":"2023042508092707425_j_jtim-2022-0047_ref_010","unstructured":"Zhang W, Yuan P, Li X, Yao Y, Wang X, Wang Z, et al. [A case report of ANO10 gene in a family with autosomal recessive cerebellar ataxia]. Bei Jing Yi Xue 2021;43:282\u20134.(In Chinese)"},{"key":"2023042508092707425_j_jtim-2022-0047_ref_011","doi-asserted-by":"crossref","unstructured":"Minnerop M, Bauer P. Autosomal recessive cerebellar ataxia 3 due to homozygote c.132dupA mutation within the ANO10 gene. JAMA Neurol 2015;72:238\u20139.","DOI":"10.1001\/jamaneurol.2014.3918"}],"container-title":["Journal of Translational Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.2478\/jtim-2022-0047\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.2478\/jtim-2022-0047\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,25]],"date-time":"2023-04-25T08:14:46Z","timestamp":1682410486000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.2478\/jtim-2022-0047\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,1]]},"references-count":11,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2023,1,13]]},"published-print":{"date-parts":[[2023,1,13]]}},"alternative-id":["10.2478\/jtim-2022-0047"],"URL":"https:\/\/doi.org\/10.2478\/jtim-2022-0047","relation":{},"ISSN":["2224-4018"],"issn-type":[{"value":"2224-4018","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,1]]}}}