{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T15:57:23Z","timestamp":1791302243484,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":3895,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2005,2,15]]},"DOI":"10.1002\/ajmg.a.30510","type":"journal-article","created":{"date-parts":[[2005,1,6]],"date-time":"2005-01-06T19:17:35Z","timestamp":1105039055000},"page":"13-17","source":"Crossref","is-referenced-by-count":10,"title":["Large deletion involving the 5?-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia"],"prefix":"10.1002","volume":"133A","author":[{"given":"Hiroshi","family":"Iwanaga","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Tsujino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susumu","family":"Shirabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroto","family":"Eguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi","family":"Fukushima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norio","family":"Niikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koh-ichiro","family":"Yoshiura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsumi","family":"Eguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005]]},"reference":[{"key":"10.1002\/ajmg.a.30510-BIB1","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1093\/hmg\/ddg004","volume":"12","author":"Charvin","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1002\/ajmg.a.30510-BIB2","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1093\/hmg\/11.2.153","volume":"11","author":"Errico","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1002\/ajmg.a.30510-BIB3","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1212\/WNL.46.6.1507","volume":"46","author":"Fink","year":"1996","journal-title":"Neurology"},{"key":"10.1002\/ajmg.a.30510-BIB4","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1093\/hmg\/9.4.637","volume":"9","author":"Fonknechten","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1002\/ajmg.a.30510-BIB5","doi-asserted-by":"crossref","first-page":"1328","DOI":"10.1086\/339935","volume":"70","author":"Hansen","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1002\/ajmg.a.30510-BIB6","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1016\/S0140-6736(83)92879-9","volume":"8334","author":"Harding","year":"1983","journal-title":"Lancet"},{"key":"10.1002\/ajmg.a.30510-BIB7","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1038\/15472","volume":"23","author":"Hazan","year":"1999","journal-title":"Nat Genet"},{"key":"10.1002\/ajmg.a.30510-BIB8","doi-asserted-by":"crossref","first-page":"1482","DOI":"10.1212\/WNL.56.11.1482","volume":"56","author":"Higgins","year":"2001","journal-title":"Neurology"},{"key":"10.1002\/ajmg.a.30510-BIB9","doi-asserted-by":"crossref","first-page":"3443","DOI":"10.1073\/pnas.81.11.3443","volume":"81","author":"Lathrop","year":"1984","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/ajmg.a.30510-BIB10","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1136\/jmg.37.10.759","volume":"37","author":"Lindsey","year":"2000","journal-title":"J Med Genet"},{"key":"10.1002\/ajmg.a.30510-BIB11","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/S0168-9525(98)01555-8","volume":"14","author":"Lupski","year":"1998","journal-title":"Trends Genet"},{"key":"10.1002\/ajmg.a.30510-BIB12","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1212\/WNL.55.12.1794","volume":"55","author":"McMonagle","year":"2000","journal-title":"Neurology"},{"key":"10.1002\/ajmg.a.30510-BIB13","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1136\/jmg.40.2.81","volume":"40","author":"Reid","year":"2003","journal-title":"J Med Genet"},{"key":"10.1002\/ajmg.a.30510-BIB14","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1086\/344210","volume":"71","author":"Reid","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1002\/ajmg.a.30510-BIB15","volume-title":"Molecular Cloning: A Laboratory Manual","author":"Sambrook","year":"2001","unstructured":"2001. Molecular Cloning: A Laboratory Manual, 3rd edn. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press."},{"key":"10.1002\/ajmg.a.30510-BIB16","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1002\/humu.10105","volume":"20","author":"Sauter","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1002\/ajmg.a.30510-BIB17","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1086\/320111","volume":"68","author":"Svenson","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1002\/ajmg.a.30510-BIB18","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1001\/archneur.61.1.49","volume":"61","author":"Tang","year":"2004","journal-title":"Arch Neurol"},{"key":"10.1002\/ajmg.a.30510-BIB19","doi-asserted-by":"crossref","first-page":"e46","DOI":"10.1136\/jmg.39.8.e46","volume":"39","author":"Yabe","year":"2002","journal-title":"J Med Genet"},{"key":"10.1002\/ajmg.a.30510-BIB20","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1038\/ng758","volume":"29","author":"Zhao","year":"2001","journal-title":"Nat Genet"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30510","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/ajmg.a.30510","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T19:24:58Z","timestamp":1625081098000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30510"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,2,15]]}},"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30510","relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005]]}}}