{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T05:29:53Z","timestamp":1791350993040,"version":"4.3.1"},"reference-count":5,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2003,8,26]],"date-time":"2003-08-26T00:00:00Z","timestamp":1061856000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2003,9]]},"DOI":"10.1038\/sj.ejhg.5201027","type":"journal-article","created":{"date-parts":[[2003,8,26]],"date-time":"2003-08-26T10:26:13Z","timestamp":1061893573000},"page":"710-713","source":"Crossref","is-referenced-by-count":11,"title":["Novel spastin mutations and their expression analysis in two Italian families"],"prefix":"10.1038","volume":"11","author":[{"given":"Annamaria","family":"Molon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Montagna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corrado","family":"Angelini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Pegoraro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2003,8,26]]},"reference":[{"key":"BF5201027_CR1","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1038\/15472","volume":"23","author":"J Hazan","year":"1999","unstructured":"Hazan J, Fonknechten N, Mavel D et al: Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 1999; 23: 296\u2013303.","journal-title":"Nat Genet"},{"key":"BF5201027_CR2","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1093\/hmg\/9.4.637","volume":"9","author":"N Fonknechten","year":"2000","unstructured":"Fonknechten N, Mavel D, Byrne P et al: Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 2000; 9: 637\u2013644.","journal-title":"Hum Mol Genet"},{"key":"BF5201027_CR3","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1093\/hmg\/ddg004","volume":"12","author":"D Charvin","year":"2003","unstructured":"Charvin D, Cifuentes-Diaz C, Fonknechten N et al: Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus. Hum Mol Genet 2003; 12: 71\u201378.","journal-title":"Hum Mol Genet"},{"key":"BF5201027_CR4","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1093\/hmg\/11.2.153","volume":"11","author":"A Errico","year":"2002","unstructured":"Errico A, Ballabio A, Rugarli EI: Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet 2002; 11: 153\u2013156.","journal-title":"Hum Mol Genet"},{"key":"BF5201027_CR5","doi-asserted-by":"publisher","first-page":"1691","DOI":"10.1172\/JCI119332","volume":"99","author":"A Morrone","year":"1997","unstructured":"Morrone A, Pegoraro E, Angelini C, Zammarchi C, Marconi G, Hoffman EP: RNA metabolism in myotonic dystrophy. Patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance. J Clin Invest 1997; 99: 1691\u20131698.","journal-title":"J Clin Invest"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201027.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201027","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201027.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:29:53Z","timestamp":1684373393000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201027"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,8,26]]},"references-count":5,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2003,9]]}},"alternative-id":["BF5201027"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201027","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,8,26]]}}}