{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T04:19:25Z","timestamp":1791001165108,"version":"4.1.0"},"reference-count":87,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2013,11,1]],"date-time":"2013-11-01T00:00:00Z","timestamp":1383264000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,11,1]],"date-time":"2014-11-01T00:00:00Z","timestamp":1414800000000},"content-version":"vor","delay-in-days":365,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"published-print":{"date-parts":[[2013,11]]},"DOI":"10.1016\/j.bbadis.2012.08.012","type":"journal-article","created":{"date-parts":[[2012,8,29]],"date-time":"2012-08-29T19:02:07Z","timestamp":1346266927000},"page":"1795-1800","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":132,"title":["The neuronal ceroid-lipofuscinoses: A historical introduction"],"prefix":"10.1016","volume":"1832","author":[{"given":"Matti","family":"Haltia","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans H.","family":"Goebel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbadis.2012.08.012_bb0005","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1542\/peds.44.4.570","article-title":"Neuronal ceroid-lipofuscinosis (Batten's disease): relationship to amaurotic family idiocy?","volume":"44","author":"Zeman","year":"1969","journal-title":"Pediatrics"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0010","series-title":"The neuronal ceroid lipofuscinoses (Batten disease)","year":"2011"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0015","series-title":"The Neuronal Ceroid Lipofuscinoses (Batten Disease)","first-page":"361","article-title":"Appendix\u00a01: NCL incidence and prevalence data","author":"Williams","year":"2011"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0020","first-page":"347","article-title":"Beretning om et m\u00e6rkeligt Sygdomstilf\u00e6lde hos fire S\u00f8dskende i N\u00e6rheden af R\u00f8raas","volume":"1","author":"Stengel","year":"1826","journal-title":"Eyr Med. Tidskr."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0025","first-page":"1542","article-title":"Juvenil amaurotisk idioti i Norge (Juvenile amaurotic idiocy in Norway)","volume":"52","author":"Nissen","year":"1954","journal-title":"Nord. Med."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0030","first-page":"697","article-title":"A family form of idiocy, generally fatal and associated with early blindness (amaurotic family idiocy)","volume":"63","author":"Sachs","year":"1896","journal-title":"N. Y. Med. J."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0035","first-page":"386","article-title":"Cerebral degeneration with symmetrical changes in the maculae in two members of a family","volume":"23","author":"Batten","year":"1903","journal-title":"Trans. Ophthalmol. Soc. U. K."},{"key":"10.1016\/j.bbadis.2012.08.012_rf0040","first-page":"444","article-title":"Family cerebral degeneration with macular change (so-called juvenile form of family amaurotic idiocy)","volume":"7","author":"Batten","year":"1914","journal-title":"Q. J. Med."},{"key":"10.1016\/j.bbadis.2012.08.012_rf0045","first-page":"70","article-title":"Family cerebral degeneration with macular changes","volume":"8","author":"Batten","year":"1915","journal-title":"Proc. R. Soc. Med."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0050","first-page":"161","article-title":"\u00dcber famili\u00e4re amaurotische Idiotie und verwandte Krankheitsbilder","volume":"19","author":"Vogt","year":"1905","journal-title":"Monatsschr. Psychiatr. Neurol."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0055","first-page":"1","article-title":"Famili\u00e4re amaurotische Idiotie. Histologische und histopathologische Studien","volume":"51","author":"Vogt","year":"1909","journal-title":"Arch. Kinderheilkd."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0060","first-page":"620","article-title":"\u00dcber famili\u00e4re amaurotische Idiotien","volume":"24","author":"Spielmeyer","year":"1905","journal-title":"Neurol. Cbl."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0065","first-page":"1131","article-title":"Weitere Mittheilung \u00fcber eine besondere Form von famili\u00e4rer amaurotischer Idiotie","volume":"24","author":"Spielmeyer","year":"1905","journal-title":"Neurol. Cbl."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0070","first-page":"193","article-title":"Klinische und anatomische Untersuchungen \u00fcber eine besondere Form von famili\u00e4rer amaurotischer Idiotie","volume":"2","author":"Spielmeyer","year":"1908","journal-title":"Histol. Histopathol."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0075","first-page":"165","article-title":"Sur un cas jusqu\u00b4a pr\u00e9sente non d\u00e9crit de I\u00b4idiotie amaurotique familiale compliqu\u00e9e par une hypoplasie du cervelet","volume":"13","author":"Jansk\u00fd","year":"1908","journal-title":"Sborna L\u00e9k"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0080","first-page":"7","article-title":"\u00dcber sp\u00e4tinfantile amaurotische Idiotie mit Kleinhirnsymptomen","volume":"50","author":"Bielschowsky","year":"1913","journal-title":"Dtsch. Z. Nervenheilkd."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0085","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/BF02046807","article-title":"Beitr\u00e4ge zur Nosographie und Histopathologie der amaurotisch-paralytischen Idiotieformen","volume":"42","author":"Schaffer","year":"1906","journal-title":"Arch. Psychiatr. Nervenkr."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0090","first-page":"19","article-title":"\u00dcber die Anatomie und Klinik der Tay\u2013Sachs'schen amaurotisch-famili\u00e4ren Idiotie mit R\u00fccksicht auf verwandte Formen","volume":"3","author":"Schaffer","year":"1910","journal-title":"Z. Erforsch. Behandl. Jugendl. Schwachsinns"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0095","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1007\/BF02900989","article-title":"\u00dcber eine Sp\u00e4tform der amaurotischen Idiotie und ihre heredofamili\u00e4ren Grundlagen","volume":"95","author":"Kufs","year":"1925","journal-title":"Z. Gesamte Neurol. Psychiatr."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0100","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1111\/j.1601-5223.1931.tb02535.x","article-title":"Die juvenile amaurotische Idiotie. Klinische und erblichkeitsmedizinische Untersuchungen","volume":"14","author":"Sj\u00f6gren","year":"1931","journal-title":"Hereditas (Lund)"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0105","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1515\/bchm2.1939.262.3-5.128","article-title":"Beitr\u00e4ge zur Chemie der Lipidosen, Niemann\u2013Picksche Krankheit und amaurotische Idiotie, Hoppe-Seyler","volume":"262","author":"Klenk","year":"1939","journal-title":"Z. Physiol. Chem."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0110","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1016\/0006-291X(62)90030-X","article-title":"The chemical structure of normal human brain and Tay\u2013Sachs gangliosides","volume":"9","author":"Svennerholm","year":"1962","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0115","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1007\/BF00687063","article-title":"Fine structure of the lipid bodies in juvenile amaurotic idiocy","volume":"3","author":"Zeman","year":"1963","journal-title":"Acta Neuropathol. (Berl.)"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0120","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1038\/1881000a0","article-title":"Membranous cytoplasmic granules in infantile amaurotic idiocy","volume":"188","author":"Terry","year":"1960","journal-title":"Nature"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0125","first-page":"588","article-title":"The neuronal ceroid-lipofuscinoses (Batten\u2013Vogt syndrome)","volume":"vol. 10","author":"Zeman","year":"1970"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0130","first-page":"241","article-title":"Neuronal ceroid-lipofuscinosis of early onset. A report of 6 cases","volume":"61","author":"Haltia","year":"1972","journal-title":"Acta Paediatr. Scand."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0135","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1007\/BF00697751","article-title":"Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies","volume":"26","author":"Haltia","year":"1973","journal-title":"Acta Neuropathol. (Berl.)"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0140","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1016\/0022-510X(73)90076-2","article-title":"Infantile type of so-called neuronal ceroid-lipofuscinosis: 2. Morphological and biochemical studies","volume":"18","author":"Haltia","year":"1973","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0145","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/0022-510X(73)90075-0","article-title":"Infantile type of so-called neuronal ceroid-lipofuscinosis: 1. A clinical study of 15 patients","volume":"18","author":"Santavuori","year":"1973","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0150","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1111\/j.1748-5827.1969.tb04003.x","article-title":"Neuronal ceroid-lipofuscinosis in English setters","volume":"10","author":"Koppang","year":"1970","journal-title":"J. Small Anim. Pract."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0155","first-page":"203","article-title":"The neuronal ceroid-lipofuscinoses","volume":"vol. 3","author":"Zeman","year":"1976"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0160","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1136\/jnnp.4.3-4.175","article-title":"Congenital form of amaurotic family idiocy","volume":"4","author":"Norman","year":"1941","journal-title":"J. Neurol. Psychiatry"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0165","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1136\/adc.29.143.48","article-title":"A second case in the same family of congenital familial cerebral lipoidosis resembling amaurotic family idiocy","volume":"29","author":"Brown","year":"1954","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0170","first-page":"226","article-title":"Congenital amaurotic idiocy","volume":"3","author":"Sandbank","year":"1968","journal-title":"Pathol. Eur."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0175","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/0022-510X(78)90087-4","article-title":"Early-juvenile Batten's disease\u2014a recognisable sub-group distinct from other forms of Batten's disease. Analysis of 5 patients","volume":"36","author":"Lake","year":"1978","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0180","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/S1090-3798(97)80041-4","article-title":"Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the \u201cPrague NCL Group\u201d","volume":"1","author":"Elleder","year":"1997","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0185","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1055\/s-2008-1059612","article-title":"A variant of Jansky\u2013Bielschowsky disease","volume":"13","author":"Santavuori","year":"1982","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0190","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1055\/s-2008-1071423","article-title":"The spectrum of Jansk\u00fd\u2013Bielschowsky disease","volume":"22","author":"Santavuori","year":"1991","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0195","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1097\/00005072-199704000-00005","article-title":"Variant late infantile neuronal ceroid-lipofuscinosis: pathology and biochemistry","volume":"56","author":"Tyynel\u00e4","year":"1997","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0200","series-title":"The Neuronal Ceroid Lipofuscinoses (Batten disease)","first-page":"114","article-title":"Turkish variant late infantile NCL","author":"Williams","year":"1999"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0205","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1136\/jmg.31.3.177","article-title":"Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration","volume":"31","author":"Hirvasniemi","year":"1994","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0210","series-title":"The Neuronal Ceroid Lipofuscinoses (Batten disease)","first-page":"117","article-title":"CLN8. Northern epilepsy","author":"Haltia","year":"1999"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0215","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1111\/j.1750-3639.2000.tb00255.x","article-title":"Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis","volume":"10","author":"Herva","year":"2000","journal-title":"Brain Pathol."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0220","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1093\/brain\/94.4.745","article-title":"A dominant form of neuronal ceroid-lipofuscinosis","volume":"94","author":"Boehme","year":"1971","journal-title":"Brain"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0225","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1002\/mds.10104","article-title":"Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction","volume":"17","author":"Nijssen","year":"2002","journal-title":"Mov. Disord."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0230","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1111\/j.1748-5827.1994.tb03290.x","article-title":"Canine ceroid-lipofuscinoses: a review and classification","volume":"35","author":"Jolly","year":"1994","journal-title":"J. Small Anim. Pract."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0235","first-page":"207","article-title":"Neuronal ceroid-lipofuscin storage in Siamese cats","volume":"38","author":"Green","year":"1974","journal-title":"Can. J. Comp. Med."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0240","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1292\/jvms.55.829","article-title":"Systemic ceroid-lipofuscinosis in a Japanese domestic cat","volume":"55","author":"Nakayama","year":"1993","journal-title":"J. Vet. Med. Sci."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0245","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1177\/030098589503200505","article-title":"Neuronal ceroid-lipofuscinosis in a cat","volume":"32","author":"Bildfell","year":"1995","journal-title":"Vet. Pathol."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0250","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/S0021-9975(97)80063-1","article-title":"Neuronal ceroid-lipofuscinosis in a domestic cat: clinical, morphological and immunohistochemical findings","volume":"117","author":"Weissenbock","year":"1997","journal-title":"J. Comp. Pathol."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0255","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1111\/j.1365-2990.1980.tb00290.x","article-title":"Ovine ceroid-lipofuscinosis: a model of Batten's disease","volume":"6","author":"Jolly","year":"1980","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0260","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1007\/BF00710263","article-title":"An animal model of the infantile type of neuronal ceroid-lipofuscinosis","volume":"16","author":"J\u00e4rplid","year":"1993","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0265","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1111\/j.1751-0813.2002.tb10847.x","article-title":"Neuronal ceroid lipofuscinosis in Merino sheep","volume":"80","author":"Cook","year":"2002","journal-title":"Aust. Vet. J."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0270","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1177\/030098588802500213","article-title":"Neuronal ceroid-lipofuscinosis in Nubian goats","volume":"25","author":"Fiske","year":"1988","journal-title":"Vet. Pathol."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0275","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1177\/030098586900600305","article-title":"Neuronal lipodystrophy. Occurrence in an inbred strain of cattle","volume":"6","author":"Read","year":"1969","journal-title":"Pathol. Vet."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0280","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1007\/BF00686210","article-title":"Neurovisceral ceroid-lipofuscinosis in blind Devon cattle","volume":"75","author":"Harper","year":"1988","journal-title":"Acta Neuropathol. (Berl.)"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0285","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1007\/s004010000298","article-title":"Equine neuronal ceroid lipofuscinosis","volume":"101","author":"Url","year":"2001","journal-title":"Acta Neuropathol. (Berl.)"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0290","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1002\/ana.410330408","article-title":"Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease)","volume":"33","author":"Bronson","year":"1993","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0295","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1002\/(SICI)1096-8628(19980526)77:4<289::AID-AJMG8>3.0.CO;2-I","article-title":"Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9","volume":"77","author":"Bronson","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0300","doi-asserted-by":"crossref","first-page":"1773","DOI":"10.1016\/S0021-9258(17)36006-4","article-title":"Ceroid lipofuscinosis in sheep: II. The major component of the lipopigment in liver, kidney, pancreas and brain is low molecular weight protein","volume":"261","author":"Palmer","year":"1986","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0310","doi-asserted-by":"crossref","first-page":"5736","DOI":"10.1016\/S0021-9258(18)83610-9","article-title":"The major lipopigment protein and the lipid binding subunit of mitochondrial ATP synthase have the same NH2-terminal sequence","volume":"264","author":"Palmer","year":"1989","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0315","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1042\/bj2680751","article-title":"The sequence of the major protein stored in ovine ceroid lipofuscinosis is identical with that of the dicyclohexylcarbodii-mide-reactive proteolipid of mitochondrial ATP synthase","volume":"268","author":"Fearnley","year":"1990","journal-title":"Biochem. J."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0320","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1002\/ajmg.1320420428","article-title":"Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)","volume":"42","author":"Palmer","year":"1992","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0325","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/0014-5793(93)80908-D","article-title":"Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis","volume":"330","author":"Tyynel\u00e4","year":"1993","journal-title":"FEBS Lett."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0330","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1023\/A:1005365709340","article-title":"Accumulation of sphingolipid activator proteins (SAPs) A and D in granular osmiophilic deposits in miniature Schnauzer dogs with ceroid-lipofuscinosis","volume":"20","author":"Palmer","year":"1997","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0335","doi-asserted-by":"crossref","first-page":"2786","DOI":"10.1093\/emboj\/19.12.2786","article-title":"A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration","volume":"19","author":"Tyynel\u00e4","year":"2000","journal-title":"EMBO J."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0340","doi-asserted-by":"crossref","first-page":"1438","DOI":"10.1093\/brain\/awl107","article-title":"Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis","volume":"129","author":"Siintola","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0345","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1111\/j.1399-0004.1989.tb03193.x","article-title":"Batten disease (Spielmeyer\u2013Sj\u00f6gren disease) and haptoglobins (HP): Indication of linkage and assignment to chromosome 16","volume":"36","author":"Eiberg","year":"1989","journal-title":"Clin. Genet."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0350","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1038\/376584a0","article-title":"Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis","volume":"376","author":"Vesa","year":"1995","journal-title":"Nature"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0355","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/0092-8674(95)90274-0","article-title":"The International Batten Disease Consortium, Isolation of a novel gene underlying Batten disease, CLN3","volume":"82","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0360","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1016\/j.bbadis.2006.05.007","article-title":"Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins","volume":"1762","author":"Kytt\u00e4l\u00e4","year":"2006","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0365","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/humu.21624","article-title":"Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses","volume":"33","author":"Kousi","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0370","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1016\/j.nbd.2004.12.019","article-title":"Cathepsin D-deficient Drosophila recapitulate the key features of neuronal ceroid lipofuscinoses","volume":"19","author":"Myllykangas","year":"2005","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0375","series-title":"The Neuronal Ceroid Lipofuscinoses (Batten Disease)","year":"1999"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0380","doi-asserted-by":"crossref","first-page":"2646","DOI":"10.1093\/hmg\/dds089","article-title":"Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis","volume":"21","author":"Bras","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0385","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1016\/j.ajhg.2012.04.021","article-title":"Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage","volume":"90","author":"Smith","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0390","series-title":"The Neuronal Ceroid Lipofuscinoses (Batten Disease)","first-page":"20","article-title":"NCL nomenclature and classification","author":"Williams","year":"2011"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0395","series-title":"The Neuronal Ceroid Lipofuscinoses (Batten Disease)","first-page":"24","article-title":"NCL diagnosis and algorithms","author":"Kohlsch\u00fctter","year":"2011"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0400","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1212\/WNL.0b013e31825f0547","article-title":"New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses","volume":"79","author":"Williams","year":"2012","journal-title":"Neurology"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0405","series-title":"The Dissection of a Degenerative Disease. Proceedings of Four Round-table Conferences on the Pathogenesis of Batten's Disease (Neuronal Ceroid-Lipofuscinosis)","year":"1975"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0410","series-title":"Mikroskopiske unders\u00f8gelser af nervesystemet","first-page":"1","volume":"10","author":"Hannover","year":"1843"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0415","first-page":"68","article-title":"Pigmentstudien","volume":"54","author":"Hueck","year":"1912","journal-title":"Beitr. Pathol. Anat. Allg. Pathol."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0420","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/jnen\/62.1.1","article-title":"The neuronal ceroid-lipofuscinoses","volume":"62","author":"Haltia","year":"2003","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0430","series-title":"The Neuronal Ceroid Lipofuscinoses (Batten Disease)","first-page":"1","article-title":"The NCLs: evolution of the concept and classification","author":"Haltia","year":"2011"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0435","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1111\/j.1749-6632.2002.tb02083.x","article-title":"Pigments in aging: an overview","volume":"959","author":"Porta","year":"2002","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"10.1016\/j.bbadis.2012.08.012_bb0440","series-title":"The Neuronal Ceroid Lipofuscinoses (Batten Disease)","first-page":"366","article-title":"Appendix\u00a02: useful information","author":"Mole","year":"2011"},{"key":"10.1016\/j.bbadis.2012.08.012_bb0445","series-title":"Ceroid-Lipofuscinosis (Batten's Disease). Proceedings of the International Symposium on Human and Animal Models of Ceroid-Lipofuscinosis","year":"1982"}],"container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443912001986?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443912001986?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,1,27]],"date-time":"2022-01-27T21:20:46Z","timestamp":1643318446000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0925443912001986"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11]]},"references-count":87,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2013,11]]}},"alternative-id":["S0925443912001986"],"URL":"https:\/\/doi.org\/10.1016\/j.bbadis.2012.08.012","relation":{},"ISSN":["0925-4439"],"issn-type":[{"value":"0925-4439","type":"print"}],"subject":[],"published":{"date-parts":[[2013,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The neuronal ceroid-lipofuscinoses: A historical introduction","name":"articletitle","label":"Article Title"},{"value":"Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bbadis.2012.08.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 Elsevier B.V.","name":"copyright","label":"Copyright"}]}}