{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T14:21:13Z","timestamp":1792333273589,"version":"4.4.0"},"reference-count":40,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2014,7,1]],"date-time":"2014-07-01T00:00:00Z","timestamp":1404172800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"(CIHR)","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Experimental Cell Research"],"published-print":{"date-parts":[[2014,7]]},"DOI":"10.1016\/j.yexcr.2014.02.021","type":"journal-article","created":{"date-parts":[[2014,3,13]],"date-time":"2014-03-13T10:00:44Z","timestamp":1394704844000},"page":"18-26","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":52,"title":["Molecular aspects of hereditary spastic paraplegia"],"prefix":"10.1016","volume":"325","author":[{"given":"Anne","family":"Noreau","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick A.","family":"Dion","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy A.","family":"Rouleau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.yexcr.2014.02.021_bib1","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1146\/annurev-neuro-062111-150400","article-title":"Cellular pathways of hereditary spastic paraplegia","volume":"35","author":"Blackstone","year":"2012","journal-title":"Annu Rev Neurosci."},{"key":"10.1016\/j.yexcr.2014.02.021_bib2","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/nrn2990","article-title":"Hereditary spastic paraplegias: membrane traffic and the motor pathway","volume":"12","author":"Blackstone","year":"2011","journal-title":"Nat Rev Neurosci."},{"key":"10.1016\/j.yexcr.2014.02.021_bib3","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1007\/s00401-013-1115-8","article-title":"Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms","volume":"126","author":"Fink","year":"2013","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.yexcr.2014.02.021_bib4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jns.2012.03.025","article-title":"Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance","volume":"318","author":"Finsterer J.","year":"2012","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.yexcr.2014.02.021_bib5","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1136\/jnnp.43.8.669","article-title":"Autosomal recessive forms of hereditary motor and sensory neuropathy","volume":"43","author":"Harding","year":"1980","journal-title":"J. Neurol. Neurosurg. Psychiatry."},{"key":"10.1016\/j.yexcr.2014.02.021_bib6","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1038\/nrg2680","article-title":"Genetics of motor neuron disorders: new insights into pathogenic mechanisms","volume":"10","author":"Dion","year":"2009","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib7","doi-asserted-by":"crossref","first-page":"2492","DOI":"10.1016\/j.bbamcr.2013.04.009","article-title":"Untangling the web: mechanisms underlying ER network formation","volume":"1833","author":"Goyal","year":"2013","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.yexcr.2014.02.021_bib8","doi-asserted-by":"crossref","first-page":"1893","DOI":"10.1016\/j.bbamcr.2011.06.011","article-title":"planning of the endoplasmic reticulum (ER): how diverse mechanisms segregate the many functions of the ER","volume":"1813","author":"Lynes","year":"2011","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.yexcr.2014.02.021_bib9","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1038\/15472","article-title":"a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia","volume":"23","author":"Hazan","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib10","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1038\/ng758","article-title":"Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia","volume":"29","author":"Zhao","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib11","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1086\/505361","article-title":"Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31","volume":"79","author":"W.G. Z\u00fcchner","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib12","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1172\/JCI60560","article-title":"Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12","volume":"122","author":"R.A. Montenegro","year":"2012","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.yexcr.2014.02.021_bib13","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/ng1313","article-title":"Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome","volume":"36","author":"A.-G.M. Windpassinger","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib14","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1007\/s10048-011-0291-8","article-title":"A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)","volume":"12","author":"A.N. Alazami","year":"2011","journal-title":"Neurogenetics"},{"key":"10.1016\/j.yexcr.2014.02.021_bib15","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1093\/brain\/awp073","article-title":"mutations in pure and complex forms of hereditary spastic paraplegia type 5","volume":"132","author":"Goizet","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.yexcr.2014.02.021_bib16","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1016\/j.ajhg.2012.11.001","article-title":"Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia","volume":"91","author":"N.M. Tesson","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib17","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1016\/j.ajhg.2012.10.017","article-title":"Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia","volume":"91","author":"G.M. Schuurs-Hoeijmakers","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib18","doi-asserted-by":"crossref","first-page":"1214","DOI":"10.1038\/ejhg.2013.29","article-title":"Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)","volume":"21","author":"N.S. Gonzalez","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib19","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1016\/j.ajhg.2007.12.018","article-title":"Neuropathy target esterase gene mutations cause motor neuron disease","volume":"82","author":"B.M. Rainier","year":"2008","journal-title":"Am J Hum Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib20","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.plefa.2010.06.005","article-title":"Genetic polymorphism of CYP2U1, a cytochrome P450 involved in fatty acids hydroxylation","volume":"83","author":"L.C.C. Devos","year":"2010","journal-title":"Prostaglandins Leukot. Essent Fatty Acids"},{"key":"10.1016\/j.yexcr.2014.02.021_bib21","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.ajhg.2013.05.006","article-title":"Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia","volume":"11","author":"S.R. Boukhris","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib22","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.ajhg.2012.12.012","article-title":"Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity","volume":"92","author":"E.-F.G. Hammer","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib23","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1038\/ng0794-351","article-title":"The rumpshaker mutation in spastic paraplegia","volume":"7","author":"H.E. Kobayashi","year":"1994","journal-title":"Nat. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib24","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1093\/brain\/awn328","article-title":"Hereditary spastic paraplegia is a novel phenotype for GJA12\/GJC2 mutations","volume":"132","author":"S.E. Orthmann-Murphy","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.yexcr.2014.02.021_bib25","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jns.2013.02.026","article-title":"A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: a case report with literature review","volume":"329","author":"H.X. Cao","year":"2013","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.yexcr.2014.02.021_bib26","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1016\/j.ajhg.2011.04.019","article-title":"Adaptor protein complex 4 deficiency causes severe autosomal\u2013recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature","volume":"88","author":"P.O. Abou Jamra","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib27","doi-asserted-by":"crossref","first-page":"e1000408","DOI":"10.1371\/journal.pbio.1000408","article-title":"A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia","volume":"8","author":"T.M. S\u0142abicki","year":"2010","journal-title":"PLoS Biol."},{"key":"10.1016\/j.yexcr.2014.02.021_bib28","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1038\/ng1980","article-title":"Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum","volume":"39","author":"Stevanin","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib29","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1016\/j.ajhg.2008.03.004","article-title":"Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome","volume":"82","author":"M.E. Hanein","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib30","doi-asserted-by":"crossref","first-page":"e1001170","DOI":"10.1371\/journal.pbio.1001170","article-title":"The fifth adaptor protein complex","volume":"9","author":"B.L. Hirst","year":"2011","journal-title":"PLoS Biol."},{"key":"10.1016\/j.yexcr.2014.02.021_bib31","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":"C.J. Rainier","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib32","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":"C.H. Patel","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib33","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1086\/379522","article-title":"Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia","volume":"73","author":"C.H. Simpson","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib34","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.1097\/NEN.0000000000000000","article-title":"Pathogenesis of autosomal dominant hereditary spastic paraplegia (SPG6) revealed by a rat model","volume":"72","author":"A.W. Watanabe","year":"2013","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.yexcr.2014.02.021_bib35","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1086\/510782","article-title":"Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia","volume":"80","author":"M.I. Valdmanis","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib36","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1136\/jmedgenet-2012-100742","article-title":"A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis","volume":"49","author":"W.W. Zivony-Elboum","year":"2012","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib37","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/S0092-8674(00)81203-9","article-title":"Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease","volume":"93","author":"Casari","year":"1998","journal-title":"Cell."},{"key":"10.1016\/j.yexcr.2014.02.021_bib38","doi-asserted-by":"crossref","first-page":"1328","DOI":"10.1086\/339935","article-title":"Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60","volume":"70","author":"D.A. Hansen","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib39","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1136\/jmedgenet-2012-101212","article-title":"Spastic Paraplegia Research Consortium (JASPAC). A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)","volume":"49","author":"Shimazaki","year":"2012","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.yexcr.2014.02.021_bib40","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.mito.2010.07.006","article-title":"Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation","volume":"11","author":"G.N. Verny","year":"2011","journal-title":"Mitochondrion"}],"container-title":["Experimental Cell Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014482714000846?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014482714000846?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,8,8]],"date-time":"2019-08-08T08:27:38Z","timestamp":1565252858000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0014482714000846"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7]]},"references-count":40,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,7]]}},"alternative-id":["S0014482714000846"],"URL":"https:\/\/doi.org\/10.1016\/j.yexcr.2014.02.021","relation":{},"ISSN":["0014-4827"],"issn-type":[{"value":"0014-4827","type":"print"}],"subject":[],"published":{"date-parts":[[2014,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Molecular aspects of hereditary spastic paraplegia","name":"articletitle","label":"Article Title"},{"value":"Experimental Cell Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.yexcr.2014.02.021","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}