{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T10:57:46Z","timestamp":1758970666818},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2010,5,12]],"date-time":"2010-05-12T00:00:00Z","timestamp":1273622400000},"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":[[2010,9]]},"DOI":"10.1038\/ejhg.2010.68","type":"journal-article","created":{"date-parts":[[2010,5,12]],"date-time":"2010-05-12T10:31:49Z","timestamp":1273660309000},"page":"1065-1067","source":"Crossref","is-referenced-by-count":25,"title":["A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)"],"prefix":"10.1038","volume":"18","author":[{"given":"Nina A","family":"Schlipf","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Beetz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Sch\u00fcle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Stevanin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne Kjersti","family":"Erichsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Forlani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9cile","family":"Zaros","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathrin","family":"Karle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephan","family":"Klebe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sven","family":"Klimpe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Durr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Otto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chantal M E","family":"Tallaksen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olaf","family":"Riess","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexis","family":"Brice","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Bauer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ludger","family":"Sch\u00f6ls","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2010,5,12]]},"reference":[{"key":"BFejhg201068_CR1","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1007\/s11910-996-0011-1","volume":"6","author":"JK Fink","year":"2006","unstructured":"Fink JK : Hereditary spastic paraplegia. Curr Neurol Neurosci Rep 2006; 6: 65\u201376.","journal-title":"Curr Neurol Neurosci Rep"},{"key":"BFejhg201068_CR2","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1097\/WCO.0b013e3282f190ba","volume":"20","author":"C Depienne","year":"2007","unstructured":"Depienne C, Stevanin G, Brice A, Durr A : Hereditary spastic paraplegias: an update. Curr Opin Neurol 2007; 20: 674\u2013680.","journal-title":"Curr Opin Neurol"},{"key":"BFejhg201068_CR3","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1016\/S0140-6736(83)92879-9","volume":"1","author":"AE Harding","year":"1983","unstructured":"Harding AE : Classification of the hereditary ataxias and paraplegias. Lancet 1983; 1: 1151\u20131155.","journal-title":"Lancet"},{"key":"BFejhg201068_CR4","doi-asserted-by":"publisher","first-page":"1127","DOI":"10.1016\/S1474-4422(08)70258-8","volume":"7","author":"S Salinas","year":"2008","unstructured":"Salinas S, Proukakis C, Crosby A, Warner TT : Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 2008; 7: 1127\u20131138.","journal-title":"Lancet Neurol"},{"key":"BFejhg201068_CR5","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1002\/humu.9205","volume":"23","author":"SM Sauter","year":"2004","unstructured":"Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J : Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum Mutat 2004; 23: 98.","journal-title":"Hum Mutat"},{"key":"BFejhg201068_CR6","doi-asserted-by":"publisher","first-page":"584","DOI":"10.1136\/jnnp.2007.137596","volume":"79","author":"R Schule","year":"2008","unstructured":"Schule R, Kremer BP, Kassubek J et al: SPG10 is a rare cause of spastic paraplegia in European families. J Neurol Neurosurg Psychiatry 2008; 79: 584\u2013587.","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"Part 4","key":"BFejhg201068_CR7","doi-asserted-by":"publisher","first-page":"1078","DOI":"10.1093\/brain\/awn026","volume":"131","author":"C Beetz","year":"2008","unstructured":"Beetz C, Schule R, Deconinck T et al: REEP1 mutation spectrum and genotype\/phenotype correlation in hereditary spastic paraplegia type 31. Brain 2008; 131 (Part 4): 1078\u20131086.","journal-title":"Brain"},{"key":"BFejhg201068_CR8","doi-asserted-by":"publisher","first-page":"897","DOI":"10.1007\/s00415-006-0470-y","volume":"254","author":"J Hansen","year":"2007","unstructured":"Hansen J, Svenstrup K, Ang D et al: A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia. J Neurol 2007; 254: 897\u2013900.","journal-title":"J Neurol"},{"key":"BFejhg201068_CR9","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1016\/j.jns.2007.11.015","volume":"268","author":"C Beetz","year":"2008","unstructured":"Beetz C, Schule R, Klebe S et al: Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots. J Neurol Sci 2008; 268: 131\u2013135.","journal-title":"J Neurol Sci"},{"key":"BFejhg201068_CR10","doi-asserted-by":"publisher","first-page":"752","DOI":"10.1016\/j.ajhg.2008.11.003","volume":"83","author":"P Lin","year":"2008","unstructured":"Lin P, Li J, Liu Q et al: A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). Am J Hum Genet 2008; 83: 752\u2013759.","journal-title":"Am J Hum Genet"},{"key":"BFejhg201068_CR11","doi-asserted-by":"publisher","first-page":"760","DOI":"10.1007\/s00424-003-1071-6","volume":"447","author":"Y Hirabayashi","year":"2004","unstructured":"Hirabayashi Y, Kanamori A, Nomura KH, Nomura K : The acetyl-CoA transporter family SLC33. Pflugers Arch 2004; 447: 760\u2013762.","journal-title":"Pflugers Arch"},{"key":"BFejhg201068_CR12","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1212\/01.wnl.0000191390.20564.8e","volume":"66","author":"M Namekawa","year":"2006","unstructured":"Namekawa M, Ribai P, Nelson I et al: SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology 2006; 66: 112\u2013114.","journal-title":"Neurology"},{"key":"BFejhg201068_CR13","doi-asserted-by":"publisher","first-page":"E376","DOI":"10.1002\/humu.20920","volume":"30","author":"C Goizet","year":"2009","unstructured":"Goizet C, Boukhris A, Mundwiller E et al: Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat 2009; 30: E376\u2013E385.","journal-title":"Hum Mutat"},{"key":"BFejhg201068_CR14","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1136\/jmg.2006.046425","volume":"44","author":"C Depienne","year":"2007","unstructured":"Depienne C, Fedirko E, Forlani S et al: Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. J Med Genet 2007; 44: 281\u2013284.","journal-title":"J Med Genet"},{"key":"BFejhg201068_CR15","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1007\/s10048-008-0158-9","volume":"10","author":"R Schule","year":"2008","unstructured":"Schule R, Brandt E, Karle KN et al: Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia. Neurogenetics 2008; 10: 97\u2013104.","journal-title":"Neurogenetics"},{"key":"BFejhg201068_CR16","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1093\/nar\/29.1.308","volume":"29","author":"ST Sherry","year":"2001","unstructured":"Sherry ST, Ward MH, Kholodov M et al: dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001; 29: 308\u2013311.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg201068_CR17","doi-asserted-by":"publisher","first-page":"857","DOI":"10.1002\/humu.20951","volume":"30","author":"CT Wittwer","year":"2009","unstructured":"Wittwer CT : High-resolution DNA melting analysis: advancements and limitations. Hum Mutat 2009; 30: 857\u2013859.","journal-title":"Hum Mutat"},{"key":"BFejhg201068_CR18","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1002\/humu.21019","volume":"30","author":"RH Vossen","year":"2009","unstructured":"Vossen RH, Aten E, Roos A, den Dunnen JT : High-resolution melting analysis (HRMA) \u2013 more than just sequence variant screening. Hum Mutat 2009; 30: 860\u2013866.","journal-title":"Hum Mutat"},{"key":"BFejhg201068_CR19","doi-asserted-by":"publisher","first-page":"1926","DOI":"10.1212\/01.wnl.0000244413.49258.f5","volume":"67","author":"C Beetz","year":"2006","unstructured":"Beetz C, Nygren AO, Schickel J et al: High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Neurology 2006; 67: 1926\u20131930.","journal-title":"Neurology"},{"key":"BFejhg201068_CR20","doi-asserted-by":"publisher","first-page":"1415","DOI":"10.1373\/clinchem.2009.124958","volume":"55","author":"D Ganesamoorthy","year":"2009","unstructured":"Ganesamoorthy D, Bruno DL, Schoumans J et al: Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15. Clin Chem 2009; 55: 1415\u20131418.","journal-title":"Clin Chem"},{"key":"BFejhg201068_CR21","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1038\/35057062","volume":"409","author":"ES Lander","year":"2001","unstructured":"Lander ES, Linton LM, Birren B et al: Initial sequencing and analysis of the human genome. Nature 2001; 409: 860\u2013921.","journal-title":"Nature"},{"key":"BFejhg201068_CR22","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1002\/humu.20216","volume":"26","author":"F Charbonnier","year":"2005","unstructured":"Charbonnier F, Baert-Desurmont S, Liang P et al: The 5\u2032 region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences. Hum Mutat 2005; 26: 255\u2013261.","journal-title":"Hum Mutat"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg201068.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg201068","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg201068.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:01:53Z","timestamp":1684429313000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg201068"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,5,12]]},"references-count":22,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2010,9]]}},"alternative-id":["BFejhg201068"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2010.68","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,5,12]]}}}