{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T11:39:44Z","timestamp":1789990784806,"version":"4.0.1"},"reference-count":10,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2004,11,1]],"date-time":"2004-11-01T00:00:00Z","timestamp":1099267200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2004,11,1]],"date-time":"2004-11-01T00:00:00Z","timestamp":1099267200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2004,11]]},"DOI":"10.1016\/j.nmd.2004.05.017","type":"journal-article","created":{"date-parts":[[2004,9,14]],"date-time":"2004-09-14T18:04:48Z","timestamp":1095185088000},"page":"750-753","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":17,"title":["Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis"],"prefix":"10.1016","volume":"14","author":[{"given":"Michele","family":"Falco","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmela","family":"Scuderi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastiano","family":"Musumeci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Sturnio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcella","family":"Neri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Bigoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Caniatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Fichera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2004.05.017_bib1","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1136\/jmg.40.2.81","article-title":"Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias","volume":"40","author":"Reid","year":"2003","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2004.05.017_bib2","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1093\/hmg\/9.4.637","article-title":"Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia","volume":"9","author":"Fonknechten","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2004.05.017_bib3","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1002\/humu.1130","article-title":"Denaturing high-performance liquid chromatography: a review","volume":"17","author":"Xiao","year":"2001","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2004.05.017_bib4","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1212\/WNL.55.12.1794","article-title":"Phenotype of AD-HSP due to mutations in the SPAST gene","volume":"55","author":"McMonagle","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2004.05.017_bib5","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1002\/humu.9108","article-title":"Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (spastin) gene","volume":"21","author":"Proukakis","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2004.05.017_bib6","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1002\/humu.10105","article-title":"Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia","volume":"20","author":"Sauter","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2004.05.017_bib7","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1093\/hmg\/11.2.153","article-title":"Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubules dynamics","volume":"11","author":"Errico","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2004.05.017_bib8","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/S0888-7543(03)00011-9","article-title":"The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia","volume":"81","author":"Ciccarelli","year":"2003","journal-title":"Genomics"},{"key":"10.1016\/j.nmd.2004.05.017_bib9","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/ng937","article-title":"SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia","volume":"31","author":"Patel","year":"2002","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2004.05.017_bib10","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1136\/jmg.37.10.759","article-title":"Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis","volume":"37","author":"Lindsey","year":"2000","journal-title":"J Med Genet"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896604001683?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896604001683?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:52:59Z","timestamp":1760773979000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896604001683"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,11]]},"references-count":10,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2004,11]]}},"alternative-id":["S0960896604001683"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2004.05.017","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2004,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2004.05.017","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2004 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}