{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T03:54:25Z","timestamp":1783569265498,"version":"3.55.0"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2008,10,11]],"date-time":"2008-10-11T00:00:00Z","timestamp":1223683200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"published-print":{"date-parts":[[2009,2]]},"DOI":"10.1007\/s10048-008-0153-1","type":"journal-article","created":{"date-parts":[[2008,10,10]],"date-time":"2008-10-10T10:36:12Z","timestamp":1223634972000},"page":"73-77","source":"Crossref","is-referenced-by-count":33,"title":["A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis"],"prefix":"10.1007","volume":"10","author":[{"given":"E.","family":"Stogmann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"El Tawil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Wagenstaller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Gaber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Edris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Abdelhady","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Assem-Hilger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Leutmezer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Bonelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Baumgartner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Zimprich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. M.","family":"Strom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Zimprich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,10,11]]},"reference":[{"issue":"10","key":"153_CR1","doi-asserted-by":"publisher","first-page":"850","DOI":"10.1016\/j.bbadis.2006.06.010","volume":"1762","author":"M Haltia","year":"2006","unstructured":"Haltia M (2006) The neuronal ceroid-lipofuscinoses: from past to present. Biochim Biophys Acta 1762(10):850\u2013856","journal-title":"Biochim Biophys Acta"},{"issue":"1","key":"153_CR2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1093\/jnen\/62.1.1","volume":"62","author":"M Haltia","year":"2003","unstructured":"Haltia M (2003) The neuronal ceroid-lipofuscinoses. J Neuropathol Exp Neurol 62(1):1\u201313","journal-title":"J Neuropathol Exp Neurol"},{"key":"153_CR3","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1016\/S1567-424X(09)70193-X","volume":"53","author":"P Santavuori","year":"2000","unstructured":"Santavuori P, Lauronen L, Kirveskari K, Aberg L, Sainio K (2000) Neuronal ceroid lipofuscinoses in childhood. Suppl Clin Neurophysiol 53:443\u2013451","journal-title":"Suppl Clin Neurophysiol"},{"issue":"1","key":"153_CR4","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1111\/j.1750-3639.2004.tb00499.x","volume":"14","author":"HH Goebel","year":"2004","unstructured":"Goebel HH, Wisniewski KE (2004) Current state of clinical and morphological features in human NCL. Brain Pathol 14(1):61\u201369","journal-title":"Brain Pathol"},{"issue":"4","key":"153_CR5","doi-asserted-by":"publisher","first-page":"576","DOI":"10.1212\/WNL.57.4.576","volume":"57","author":"KE Wisniewski","year":"2001","unstructured":"Wisniewski KE, Zhong N, Philippart M (2001) Pheno\/genotypic correlations of neuronal ceroid lipofuscinoses. Neurology 57(4):576\u2013581","journal-title":"Neurology"},{"issue":"10","key":"153_CR6","doi-asserted-by":"publisher","first-page":"857","DOI":"10.1016\/j.bbadis.2006.05.006","volume":"1762","author":"E Siintola","year":"2006","unstructured":"Siintola E, Lehesjoki AE, Mole SE (2006) Molecular genetics of the NCLs\u2014status and perspectives. Biochim Biophys Acta 1762(10):857\u2013864","journal-title":"Biochim Biophys Acta"},{"issue":"5\u20136","key":"153_CR7","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1016\/j.ejpn.2006.08.009","volume":"10","author":"SE Mole","year":"2006","unstructured":"Mole SE (2006) Neuronal ceroid lipofuscinoses (NCL). Eur J Paediatr Neurol 10(5\u20136):255\u2013257. doi: 10.1016\/j.ejpn.2006.08.009","journal-title":"Eur J Paediatr Neurol"},{"issue":"1","key":"153_CR8","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1111\/j.1750-3639.2004.tb00500.x","volume":"14","author":"SE Mole","year":"2004","unstructured":"Mole SE (2004) The genetic spectrum of human neuronal ceroid-lipofuscinoses. Brain Pathol 14(1):70\u201376","journal-title":"Brain Pathol"},{"issue":"10","key":"153_CR9","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1016\/j.bbadis.2006.07.001","volume":"1762","author":"RE Williams","year":"2006","unstructured":"Williams RE, Aberg L, Autti T, Goebel HH, Kohlschutter A, Lonnqvist T (2006) Diagnosis of the neuronal ceroid lipofuscinoses: an update. Biochim Biophys Acta 1762(10):865\u2013872","journal-title":"Biochim Biophys Acta"},{"issue":"4","key":"153_CR10","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1002\/ajmg.10660","volume":"112","author":"R Steinfeld","year":"2002","unstructured":"Steinfeld R, Heim P, von Gregory H, Meyer K, Ullrich K, Goebel HH et al (2002) Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. Am J Med Genet 112(4):347\u2013354. doi: 10.1002\/ajmg.10660","journal-title":"Am J Med Genet"},{"issue":"6","key":"153_CR11","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1097\/00125817-200011000-00002","volume":"2","author":"N Zhong","year":"2000","unstructured":"Zhong N, Moroziewicz DN, Ju W, Jurkiewicz A, Johnston L, Wisniewski KE et al (2000) Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. Genet Med 2(6):312\u2013318. doi: 10.1097\/00125817-200011000-00002","journal-title":"Genet Med"},{"issue":"1","key":"153_CR12","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1086\/518902","volume":"81","author":"E Siintola","year":"2007","unstructured":"Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD et al (2007) The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet 81(1):136\u2013146. doi: 10.1086\/518902","journal-title":"Am J Hum Genet"},{"issue":"1","key":"153_CR13","first-page":"1","volume":"46","author":"M Topcu","year":"2004","unstructured":"Topcu M, Tan H, Yalnizoglu D, Usubutun A, Saatci I, Aynaci M et al (2004) Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies. Turk J Pediatr 46(1):1\u201310","journal-title":"Turk J Pediatr"},{"issue":"9","key":"153_CR14","doi-asserted-by":"publisher","first-page":"2123","DOI":"10.1093\/bioinformatics\/bti264","volume":"21","author":"F Ruschendorf","year":"2005","unstructured":"Ruschendorf F, Nurnberg P (2005) ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics 21(9):2123\u20132125. doi: 10.1093\/bioinformatics\/bti264","journal-title":"Bioinformatics"},{"issue":"1","key":"153_CR15","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1038\/75514","volume":"25","author":"DF Gudbjartsson","year":"2000","unstructured":"Gudbjartsson DF, Jonasson K, Frigge ML, Kong A (2000) Allegro, a new computer program for multipoint linkage analysis. Nat Genet 25(1):12\u201313. doi: 10.1038\/75514","journal-title":"Nat Genet"},{"issue":"1","key":"153_CR16","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1016\/j.ymgme.2007.08.124","volume":"93","author":"C Bessa","year":"2008","unstructured":"Bessa C, Teixeira CA, Dias A, Alves M, Rocha S, Lacerda L et al (2008) CLN2\/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype. Mol Genet Metab 93(1):66\u201373. doi: 10.1016\/j.ymgme.2007.08.124","journal-title":"Mol Genet Metab"},{"issue":"4","key":"153_CR17","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1038\/mt.2008.9","volume":"16","author":"M Chang","year":"2008","unstructured":"Chang M, Cooper JD, Sleat DE, Cheng SH, Dodge JC, Passini MA et al (2008) Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis. Mol Ther 16(4):649\u2013656. doi: 10.1038\/mt.2008.9","journal-title":"Mol Ther"}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-008-0153-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10048-008-0153-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-008-0153-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T08:02:33Z","timestamp":1559116953000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10048-008-0153-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,10,11]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,2]]}},"alternative-id":["153"],"URL":"https:\/\/doi.org\/10.1007\/s10048-008-0153-1","relation":{},"ISSN":["1364-6745","1364-6753"],"issn-type":[{"value":"1364-6745","type":"print"},{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,10,11]]}}}