{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T21:15:39Z","timestamp":1793394939700,"version":"4.5.0"},"reference-count":39,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2015,10,1]],"date-time":"2015-10-01T00:00:00Z","timestamp":1443657600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,10,1]],"date-time":"2015-10-01T00:00:00Z","timestamp":1443657600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2016,10,1]],"date-time":"2016-10-01T00:00:00Z","timestamp":1475280000000},"content-version":"vor","delay-in-days":366,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,10,1]],"date-time":"2015-10-01T00:00:00Z","timestamp":1443657600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2015,10,1]],"date-time":"2015-10-01T00:00:00Z","timestamp":1443657600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2015,10,1]],"date-time":"2015-10-01T00:00:00Z","timestamp":1443657600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2015,10,1]],"date-time":"2015-10-01T00:00:00Z","timestamp":1443657600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2015,10,1]],"date-time":"2015-10-01T00:00:00Z","timestamp":1443657600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01NS073813"],"award-info":[{"award-number":["R01NS073813"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005468","name":"Batten Disease Support and Research Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005468","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010446","name":"Batten Disease Family Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010446","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2015,10]]},"DOI":"10.1016\/j.bbadis.2015.05.011","type":"journal-article","created":{"date-parts":[[2015,5,28]],"date-time":"2015-05-28T21:03:24Z","timestamp":1432847004000},"page":"2237-2241","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":310,"special_numbering":"PB","title":["Genetics of the neuronal ceroid lipofuscinoses (Batten disease)"],"prefix":"10.1016","volume":"1852","author":[{"given":"Sara E.","family":"Mole","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan L.","family":"Cotman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbadis.2015.05.011_bb0005","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.ajhg.2011.07.003","article-title":"Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis","volume":"89","author":"Noskova","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0010","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1002\/humu.21012","article-title":"A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function","volume":"30","author":"Vantaggiato","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0015","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1186\/1471-2202-10-130","article-title":"Progranulin is expressed within motor neurons and promotes neuronal cell survival","volume":"10","author":"Ryan","year":"2009","journal-title":"BMC Neurosci."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0020","doi-asserted-by":"crossref","first-page":"2292","DOI":"10.1016\/j.bbadis.2015.04.026","article-title":"Experimental Therapies in the Neuronal Ceroid Lipofuscinoses","volume":"1852","author":"Neverman","year":"2015","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbadis.2015.05.011_bb0025","doi-asserted-by":"crossref","first-page":"2242","DOI":"10.1016\/j.bbadis.2015.04.027","article-title":"Cell biology of the NCL proteins: what they do and don't do","volume":"1852","author":"C\u00e1rcel-Trullols","year":"2015","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbadis.2015.05.011_bb0030","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1016\/j.ajhg.2011.04.004","article-title":"Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6","volume":"88","author":"Arsov","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0035","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.2015.05.011_bb0040","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":"Nat. Genet."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0045","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1002\/humu.22292","article-title":"Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease)","volume":"34","author":"Sun","year":"2013","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0050","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.2015.05.011_bb0055","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.neulet.2008.09.046","article-title":"Variation in NPC1, the gene encoding Niemann-Pick C1, a protein involved in intracellular cholesterol transport, is associated with Alzheimer disease and\/or aging in the Polish population","volume":"447","author":"Erickson","year":"2008","journal-title":"Neurosci. Lett."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0060","doi-asserted-by":"crossref","first-page":"1972","DOI":"10.1056\/NEJMoa033277","article-title":"Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews","volume":"351","author":"Aharon-Peretz","year":"2004","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0065","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1093\/hmg\/ddm306","article-title":"A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis (JNCL)","volume":"17","author":"Kitzm\u00fcller","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0070","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1007\/s00439-013-1381-5","article-title":"Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements","volume":"133","author":"Wang","year":"2013","journal-title":"Hum. Genet."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0075","doi-asserted-by":"crossref","first-page":"2072","DOI":"10.1212\/WNL.0000000000000490","article-title":"Novel CLN3 mutation causing autophagic vacuolar myopathy","volume":"82","author":"Cortese","year":"2014","journal-title":"Neurology"},{"key":"10.1016\/j.bbadis.2015.05.011_bb0080","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.ophtha.2014.07.040","article-title":"Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with monsyndromic autosomal recessive macular dystrophy","volume":"122","author":"Roosing","year":"2015","journal-title":"Ophthalmology"},{"key":"10.1016\/j.bbadis.2015.05.011_bb0085","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.ajhg.2012.05.023","article-title":"A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system","volume":"91","author":"Staropoli","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0090","doi-asserted-by":"crossref","first-page":"2590","DOI":"10.1007\/s00415-012-6545-z","article-title":"A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome","volume":"259","author":"Blumkin","year":"2012","journal-title":"J. Neurol."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0095","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1002\/ana.21121","article-title":"Mutation of a potassium channel-related gene in progressive myoclonic epilepsy","volume":"61","author":"Van Bogaert","year":"2007","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0100","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1136\/jmedgenet-2012-100859","article-title":"Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene","volume":"49","author":"Kousi","year":"2012","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0105","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.2015.05.011_bb0110","doi-asserted-by":"crossref","first-page":"1708","DOI":"10.1074\/mcp.M900122-MCP200","article-title":"Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology","volume":"8","author":"Sleat","year":"2009","journal-title":"Mol. Cell. Proteomics"},{"key":"10.1016\/j.bbadis.2015.05.011_bb0115","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/1471-2350-13-50","article-title":"An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation","volume":"13","author":"Staropoli","year":"2012","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0120","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1002\/ajh.23118","article-title":"Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation","volume":"87","author":"Zhang","year":"2012","journal-title":"Am. J. Hematol."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0125","doi-asserted-by":"crossref","first-page":"D945","DOI":"10.1093\/nar\/gkq929","article-title":"COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer","volume":"39","author":"Forbes","year":"2011","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0130","first-page":"119","article-title":"A missense mutation accelerating the gating of the lysosomal Cl-\/H+-exchanger ClC-7\/Ostm1 causes osteopetrosis with gingival hamartomas in cattle","volume":"7","author":"Sartelet","year":"2014","journal-title":"Dis. Model. Mech."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0135","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/s10048-005-0218-3","article-title":"Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses","volume":"6","author":"Mole","year":"2005","journal-title":"Neurogenetics"},{"key":"10.1016\/j.bbadis.2015.05.011_bb0140","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.2015.05.011_bb0145","doi-asserted-by":"crossref","first-page":"3798","DOI":"10.1002\/elps.201200472","article-title":"CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches","volume":"33","author":"Haddad","year":"2012","journal-title":"Electrophoresis"},{"key":"10.1016\/j.bbadis.2015.05.011_bb0150","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1002\/ana.20187","article-title":"Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant","volume":"56","author":"Schulz","year":"2004","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0155","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.2015.05.011_bb0160","doi-asserted-by":"crossref","first-page":"1802","DOI":"10.1126\/science.277.5333.1802","article-title":"Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis","volume":"277","author":"Sleat","year":"1997","journal-title":"Science"},{"key":"10.1016\/j.bbadis.2015.05.011_bb0165","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/0092-8674(95)90274-0","article-title":"Isolation of a novel gene underlying Batten disease, CLN3","volume":"82","author":"The International Batten Disease Consortium","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.bbadis.2015.05.011_bb0170","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/975","article-title":"CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis","volume":"19","author":"Savukoski","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0175","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1086\/338708","article-title":"The gene mutated in variant late infantile neuronal ceroid lipofuscinosis (CLN6) and nclf mutant mice encodes a novel predicted transmembrane protein","volume":"70","author":"Wheeler","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0180","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1086\/518902","article-title":"The novel neuronal ceroid lipofusinosis gene MFSD8 encodes a putative lysosomal transporter","volume":"81","author":"Siintola","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0185","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.2015.05.011_bb0190","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1086\/504159","article-title":"Cathepsin D deficiency is associated with a human neurodegenerative disorder","volume":"78","author":"Steinfeld","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbadis.2015.05.011_bb0195","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1093\/hmg\/dds558","article-title":"Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis","volume":"22","author":"Smith","year":"2013","journal-title":"Hum. Mol. Genet."}],"container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443915001544?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443915001544?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,15]],"date-time":"2026-08-15T04:37:33Z","timestamp":1786768653000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0925443915001544"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10]]},"references-count":39,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["S0925443915001544"],"URL":"https:\/\/doi.org\/10.1016\/j.bbadis.2015.05.011","relation":{},"ISSN":["0925-4439"],"issn-type":[{"value":"0925-4439","type":"print"}],"subject":[],"published":{"date-parts":[[2015,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetics of the neuronal ceroid lipofuscinoses (Batten disease)","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.2015.05.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}