{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T21:35:08Z","timestamp":1778967308630,"version":"3.51.4"},"reference-count":15,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2001,1,1]],"date-time":"2001-01-01T00:00:00Z","timestamp":978307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2001,1]]},"DOI":"10.1053\/ejpn.2000.0427","type":"journal-article","created":{"date-parts":[[2006,12,14]],"date-time":"2006-12-14T12:10:57Z","timestamp":1166098257000},"page":"7-10","source":"Crossref","is-referenced-by-count":21,"special_numbering":"S1","title":["New mutations in the neuronal ceroid lipofuscinosisgenes"],"prefix":"10.1053","volume":"5","author":[{"given":"Sara E.","family":"Mole","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nanbert A.","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akosua","family":"Sarpong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. Peter","family":"Logan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Hofmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Won","family":"Yi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick F.","family":"Franken","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Otto P.","family":"Van Diggelen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martijn H.","family":"Reuning","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorota","family":"Moroziewicz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weina","family":"Ju","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tarja","family":"Salonen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ville","family":"Holmberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irma","family":"J\u00e4rvel\u00e4","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter E.M.","family":"Taschner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1053\/ejpn.2000.0427_bib1","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/(SICI)1098-1004(1999)14:3<199::AID-HUMU3>3.0.CO;2-A","article-title":"Molecular basis of the neuronal ceroid lipofuscinoses (NCL): mutations in CLN1, CLN2, CLN3, CLN5","volume":"14","author":"Mole","year":"1999","journal-title":"Hum Mutat"},{"key":"10.1053\/ejpn.2000.0427_bib2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O","article-title":"Recommendations for a nomenclature system for human gene mutations","volume":"11","author":"Antonarakis","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1053\/ejpn.2000.0427_bib3","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/13868","article-title":"The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8","volume":"23","author":"Ranta","year":"1999","journal-title":"Nature Genet"},{"key":"10.1053\/ejpn.2000.0427_bib4","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1006\/mgme.1999.2809","article-title":"A rapid fluorogenic palmitoyl-protein thioesterase assay: pre- and postnatal diagnosis of INCL","volume":"66","author":"van Diggelen","year":"1999","journal-title":"Mol Genet Metab"},{"key":"10.1053\/ejpn.2000.0427_bib5","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1136\/jmg.36.6.471","article-title":"A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants","volume":"36","author":"Voznyi","year":"1999","journal-title":"J Med Genet"},{"key":"10.1053\/ejpn.2000.0427_bib6","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1002\/(SICI)1097-0223(200004)20:4<337::AID-PD811>3.0.CO;2-#","article-title":"Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi","volume":"20","author":"Young","year":"2000","journal-title":"Prenat Diagn"},{"key":"10.1053\/ejpn.2000.0427_bib7","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1093\/clinchem\/46.7.1005","article-title":"Enzyme-based diagnosis of classical late infantile neuronal ceroid lipofuscinosis: comparison of tripeptidyl peptidase I and pepstatininsensitiveprotease assays","volume":"46","author":"Sohar","year":"2000","journal-title":"Clin Chem"},{"key":"10.1053\/ejpn.2000.0427_bib8","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<273::AID-HUMU8>3.0.CO;2-L","article-title":"Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL; CLN1)","volume":"15","author":"Salonen","year":"2000","journal-title":"Human Mutat"},{"key":"10.1053\/ejpn.2000.0427_bib9","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1002\/(SICI)1098-1004(200002)15:2<206::AID-HUMU14>3.0.CO;2-L","article-title":"Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis","volume":"15","author":"Waliany","year":"2000","journal-title":"Human Mutat (Online)"},{"key":"10.1053\/ejpn.2000.0427_bib10","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1006\/mgme.1999.2853","article-title":"Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene","volume":"67","author":"Hartikainen","year":"1999","journal-title":"Mol Genet Metab"},{"key":"10.1053\/ejpn.2000.0427_bib11","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1097\/00125817-200011000-00002","article-title":"Heterogeneity of late infantile neuronal ceroid lipofuscinoses","volume":"2","author":"Zhong","year":"2000","journal-title":"Genet Med"},{"key":"10.1053\/ejpn.2000.0427_bib12","first-page":"A232","article-title":"Enzymatic and molecular pre natal and postnatal diagnosis of ceroid lipofuscinoses","volume":"65","author":"Caillaud","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1053\/ejpn.2000.0427_bib13","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1212\/WNL.52.2.360","article-title":"Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis","volume":"52","author":"Lauronen","year":"1999","journal-title":"Neurology"},{"key":"10.1053\/ejpn.2000.0427_bib14","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1076\/1381-6810(200006)21:2;1-8;FT069","article-title":"Full-field ERG in patients with Batten\/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene","volume":"21","author":"Eksandh","year":"2000","journal-title":"Ophthal Genet"},{"key":"10.1053\/ejpn.2000.0427_bib15","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1212\/WNL.55.4.579","article-title":"Phenotypegenotype correlation in eight patients with finnish variant late infantile NCL (CLN5)","volume":"55","author":"Holmberg","year":"2000","journal-title":"Neurology"}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379805800030?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379805800030?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,5,9]],"date-time":"2023-05-09T23:45:28Z","timestamp":1683675928000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379805800030"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,1]]},"references-count":15,"alternative-id":["S1090379805800030"],"URL":"https:\/\/doi.org\/10.1053\/ejpn.2000.0427","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2001,1]]}}}