{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T13:49:25Z","timestamp":1787579365696,"version":"build-2736575974"},"reference-count":11,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2011,7,1]],"date-time":"2011-07-01T00:00:00Z","timestamp":1309478400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Basic Research Program of China","doi-asserted-by":"crossref","award":["2006CB500700"],"award-info":[{"award-number":["2006CB500700"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundations of China","doi-asserted-by":"crossref","award":["30671151"],"award-info":[{"award-number":["30671151"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Distinguished Youth Foundations of Hunan province","award":["2007JJ1005"],"award-info":[{"award-number":["2007JJ1005"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Neurology and Neurosurgery"],"published-print":{"date-parts":[[2011,7]]},"DOI":"10.1016\/j.clineuro.2011.02.011","type":"journal-article","created":{"date-parts":[[2011,6,18]],"date-time":"2011-06-18T22:07:20Z","timestamp":1308434840000},"page":"480-482","source":"Crossref","is-referenced-by-count":25,"title":["Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1"],"prefix":"10.1016","volume":"113","author":[{"given":"Juan","family":"Du","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya-cen","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bei-sha","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chong","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying-ying","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zi-xiong","family":"Zhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guo-hua","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kun","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.clineuro.2011.02.011_bib0005","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1016\/S0140-6736(83)92879-9","article-title":"Classification of the hereditary ataxias and paraplegias","volume":"1","author":"Harding","year":"1983","journal-title":"Lancet"},{"key":"10.1016\/j.clineuro.2011.02.011_bib0010","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1136\/jnnp.72.1.43","article-title":"The prevalence of pure HSP in the island of Ireland","volume":"72","author":"McMonagle","year":"2002","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.clineuro.2011.02.011_bib0015","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1055\/s-2008-1041143","article-title":"Hereditary spastic paraplegias","volume":"13","author":"Harding","year":"1993","journal-title":"Semin Neurol"},{"key":"10.1016\/j.clineuro.2011.02.011_bib0020","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1086\/378817","article-title":"NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)","volume":"73","author":"Rainier","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.clineuro.2011.02.011_bib0025","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s10048-004-0209-9","article-title":"A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia","volume":"6","author":"Reed","year":"2005","journal-title":"Neurogenetics"},{"key":"10.1016\/j.clineuro.2011.02.011_bib0030","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/humu.20126","article-title":"Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families","volume":"25","author":"Chen","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1016\/j.clineuro.2011.02.011_bib0035","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/mds.20775","article-title":"Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)","volume":"21","author":"Munhoz","year":"2006","journal-title":"Mov Disord"},{"key":"10.1016\/j.clineuro.2011.02.011_bib0040","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1002\/mds.21005","article-title":"Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia","volume":"21","author":"Kaneko","year":"2006","journal-title":"Mov Disord"},{"key":"10.1016\/j.clineuro.2011.02.011_bib0045","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1177\/08830738060210111501","article-title":"Childhood-onset spastic paraplegia with NIPA1 gene mutation","volume":"21","author":"Bien-Willner","year":"2006","journal-title":"J Child Neurol"},{"key":"10.1016\/j.clineuro.2011.02.011_bib0050","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/s10048-006-0074-9","article-title":"NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe","volume":"8","author":"Klebe","year":"2007","journal-title":"Neurogenetics"},{"issue":"1\u20132","key":"10.1016\/j.clineuro.2011.02.011_bib0055","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.jns.2007.09.024","article-title":"Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia","volume":"266","author":"Liu","year":"2008","journal-title":"Neurol Sci."}],"container-title":["Clinical Neurology and Neurosurgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0303846711000473?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0303846711000473?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,5,6]],"date-time":"2020-05-06T23:12:48Z","timestamp":1588806768000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0303846711000473"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,7]]},"references-count":11,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2011,7]]}},"alternative-id":["S0303846711000473"],"URL":"https:\/\/doi.org\/10.1016\/j.clineuro.2011.02.011","relation":{},"ISSN":["0303-8467"],"issn-type":[{"value":"0303-8467","type":"print"}],"subject":[],"published":{"date-parts":[[2011,7]]}}}