{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T18:48:44Z","timestamp":1760986124589,"version":"3.37.3"},"reference-count":5,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2022,10,19]],"date-time":"2022-10-19T00:00:00Z","timestamp":1666137600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,10,19]],"date-time":"2022-10-19T00:00:00Z","timestamp":1666137600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81771391","82001367"],"award-info":[{"award-number":["81771391","82001367"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012669","name":"Natural Science Foundation Project of Chongqing, Chongqing Science and Technology Commission","doi-asserted-by":"publisher","award":["cstc2021jcyj-msxmX0180"],"award-info":[{"award-number":["cstc2021jcyj-msxmX0180"]}],"id":[{"id":"10.13039\/501100012669","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The Second Affiliated Hospital of Chongqing Medical University"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Acta Neurol Belg"],"published-print":{"date-parts":[[2023,8]]},"DOI":"10.1007\/s13760-022-02114-9","type":"journal-article","created":{"date-parts":[[2022,10,19]],"date-time":"2022-10-19T06:02:46Z","timestamp":1666159366000},"page":"1597-1599","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel RAB39B mutation (c.309G\u2009&gt;\u2009A)-related spastic paraparasis: case report"],"prefix":"10.1007","volume":"123","author":[{"given":"Hang","family":"Liu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongyu","family":"Lai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lijuan","family":"Mo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3355-1338","authenticated-orcid":false,"given":"Lifen","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,10,19]]},"reference":[{"issue":"6","key":"2114_CR1","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1016\/j.ajhg.2014.10.015","volume":"95","author":"GR Wilson","year":"2014","unstructured":"Wilson GR, Sim JC, McLean C, Giannandrea M, Galea CA, Riseley JR, Stephenson SE, Fitzpatrick E, Haas SA, Pope K, Hogan KJ, Gregg RG, Bromhead CJ, Wargowski DS, Lawrence CH, James PA, Churchyard A, Gao Y, Phelan DG, Gillies G, Salce N, Stanford L, Marsh AP, Mignogna ML, Hayflick SJ, Leventer RJ, Delatycki MB, Mellick GD, Kalscheuer VM, D\u2019Adamo P, Bahlo M, Amor DJ, Lockhart PJ (2014) Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with \u03b1-synuclein pathology. Am J Hum Genet 95(6):729\u2013735. https:\/\/doi.org\/10.1016\/j.ajhg.2014.10.015","journal-title":"Am J Hum Genet"},{"issue":"3","key":"2114_CR2","doi-asserted-by":"publisher","first-page":"1579","DOI":"10.1002\/jcp.29962","volume":"236","author":"BL Tang","year":"2021","unstructured":"Tang BL (2021) RAB39B\u2019s role in membrane traffic, autophagy, and associated neuropathology. J Cell Physiol 236(3):1579\u20131592. https:\/\/doi.org\/10.1002\/jcp.29962","journal-title":"J Cell Physiol"},{"key":"2114_CR3","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1016\/j.parkreldis.2016.07.005","volume":"31","author":"M G\u00fcldner","year":"2016","unstructured":"G\u00fcldner M, Schulte C, Hauser AK, Gasser T, Brockmann K (2016) Broad clinical phenotype in Parkinsonism associated with a base pair deletion in RAB39B and additional POLG variant. Parkinsonism Relat Disord 31:148\u2013150. https:\/\/doi.org\/10.1016\/j.parkreldis.2016.07.005","journal-title":"Parkinsonism Relat Disord"},{"issue":"12","key":"2114_CR4","doi-asserted-by":"publisher","first-page":"1088","DOI":"10.1080\/01616412.2018.1522412","volume":"40","author":"F Cui","year":"2018","unstructured":"Cui F, Sun L, Qiao J, Xiong J, Zhao Y, Li J, Li M, Chen S, Huang X (2018) Hereditary and idiopathic spastic paraparesis: preliminary findings of a single center experience. Neurol Res 40(12):1088\u20131093. https:\/\/doi.org\/10.1080\/01616412.2018.1522412","journal-title":"Neurol Res"},{"issue":"12","key":"2114_CR5","doi-asserted-by":"publisher","first-page":"1127","DOI":"10.1016\/S1474-4422(08)70258-8","volume":"7","author":"S Salinas","year":"2008","unstructured":"Salinas S, Proukakis C, Crosby A, Warner TT (2008) Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 7(12):1127\u20131138. https:\/\/doi.org\/10.1016\/S1474-4422(08)70258-8","journal-title":"Lancet Neurol"}],"container-title":["Acta Neurologica Belgica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13760-022-02114-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13760-022-02114-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13760-022-02114-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T09:33:13Z","timestamp":1689154393000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13760-022-02114-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,19]]},"references-count":5,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["2114"],"URL":"https:\/\/doi.org\/10.1007\/s13760-022-02114-9","relation":{},"ISSN":["0300-9009","2240-2993"],"issn-type":[{"type":"print","value":"0300-9009"},{"type":"electronic","value":"2240-2993"}],"subject":[],"published":{"date-parts":[[2022,10,19]]},"assertion":[{"value":"11 June 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 October 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 October 2022","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 authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This article does not contain any studies with human participants or animals.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Written consent has been obtained from the patient and his lawful guardians.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}