{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T00:59:41Z","timestamp":1790729981172,"version":"4.1.0"},"reference-count":7,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2009,3,10]],"date-time":"2009-03-10T00:00:00Z","timestamp":1236643200000},"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":[[2009,10]]},"DOI":"10.1007\/s10048-009-0185-1","type":"journal-article","created":{"date-parts":[[2009,3,9]],"date-time":"2009-03-09T09:23:44Z","timestamp":1236590624000},"page":"307-311","source":"Crossref","is-referenced-by-count":38,"title":["Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging"],"prefix":"10.1007","volume":"10","author":[{"given":"M. A.","family":"Aldahmesh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z. N.","family":"Al-Hassnan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Aldosari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. S.","family":"Alkuraya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2009,3,10]]},"reference":[{"issue":"4","key":"185_CR1","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1073\/pnas.97.4.1525","volume":"97","author":"AR Fersht","year":"2000","unstructured":"Fersht AR (2000) Transition-state structure as a unifying basis in protein-folding mechanisms: contact order, chain topology, stability, and the extended nucleus mechanism. Proc Natl Acad Sci USA 97(4):1525\u20131529. doi: 10.1073\/pnas.97.4.1525","journal-title":"Proc Natl Acad Sci USA"},{"issue":"10","key":"185_CR2","doi-asserted-by":"crossref","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":"4808","key":"185_CR3","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1126\/science.2884728","volume":"236","author":"ES Lander","year":"1987","unstructured":"Lander ES, Botstein D (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236(4808):1567\u20131570. doi: 10.1126\/science.2884728","journal-title":"Science"},{"issue":"5\u20136","key":"185_CR4","doi-asserted-by":"crossref","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":"3","key":"185_CR5","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/s10048-005-0218-3","volume":"6","author":"SE Mole","year":"2005","unstructured":"Mole SE, Williams RE, Goebel HH (2005) Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics 6(3):107\u2013126. doi: 10.1007\/s10048-005-0218-3","journal-title":"Neurogenetics"},{"issue":"1","key":"185_CR6","doi-asserted-by":"crossref","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, Liu XQ, Wilson C, Lahtinen U, Anttonen AK 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":"185_CR7","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/s10048-008-0153-1","volume":"10","author":"E Stogmann","year":"2009","unstructured":"Stogmann E, El Tawil S, Wagenstaller J, Gaber A, Edris S, Abdelhady A, Assem-Hilger E, Leutmezer F, Bonelli S, Baumgartner C et al (2009) A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. Neurogenetics 10(1):73\u201377. doi: 10.1007\/s10048-008-0153-1","journal-title":"Neurogenetics"}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-009-0185-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10048-009-0185-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-009-0185-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T04:02:34Z","timestamp":1559102554000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10048-009-0185-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,10]]},"references-count":7,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,10]]}},"alternative-id":["185"],"URL":"https:\/\/doi.org\/10.1007\/s10048-009-0185-1","relation":{},"ISSN":["1364-6745","1364-6753"],"issn-type":[{"value":"1364-6745","type":"print"},{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3,10]]}}}