{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T04:19:26Z","timestamp":1791001166633,"version":"4.1.0"},"reference-count":104,"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.2012.11.014","type":"journal-article","created":{"date-parts":[[2012,11,29]],"date-time":"2012-11-29T12:32:57Z","timestamp":1354192377000},"page":"1807-1826","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":215,"title":["Human pathology in NCL"],"prefix":"10.1016","volume":"1832","author":[{"given":"Glenn W.","family":"Anderson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans H.","family":"Goebel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Simonati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbadis.2012.11.014_bb0005","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1007\/BF00690525","article-title":"The ultrastructural variability of non-specific lipopigments","volume":"48","author":"Goebel","year":"1979","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0010","series-title":"The Neuronal Ceroid Lipofuscinoses (Batten Disease)","first-page":"189","article-title":"CLN8 (chapter 12)","author":"Aiello","year":"2011"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0015","series-title":"The Neuronal Ceroid Lipofuscinoses (Batten Disease)","first-page":"203","article-title":"CLN 10 (chapter 13)","author":"Cooper","year":"2011"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0020","series-title":"The Neuronal Ceroid Lipofuscinoses (Batten Disease)","first-page":"159","article-title":"CLN6 (chapter 10)","author":"Alroy","year":"2011"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0025","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/BF01273267","article-title":"Loss of pigment-laden stellate cells: a severe alteration of the isocortex in juvenile neuronal ceroid-lipofuscinosis","volume":"42","author":"Braak","year":"1978","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0030","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/BF00684808","article-title":"Pigmentoarchitectonic pathology of the isocortex in juvenile neuronal ceroid-lipofuscinosis: axonal enlargements in layer IIIab and cell loss in layer V","volume":"46","author":"Braak","year":"1979","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0035","series-title":"The Neuronal Ceroid Lipofuscinoses (Batten Disease)","first-page":"140","article-title":"CLN5 (chapter 9)","author":"\u00c5berg","year":"2011"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0040","series-title":"The Neuronal Ceroid Lipofuscinoses (Batten Disease)","first-page":"176","article-title":"CLN7 (chapter 11)","author":"Elleder","year":"2011"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0045","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1111\/j.1750-3639.2004.tb00077.x","article-title":"Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: distinct patterns of storage deposition, neurodegeneration and glial activation","volume":"14","author":"Tyynel\u00e4","year":"2004","journal-title":"Brain Pathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0050","series-title":"The Neuronal Ceroid Lipofuscinoses (Batten Disease)","first-page":"213","article-title":"Genetically unassigned or unusual NCLs (chapter 14)","author":"Boustany","year":"2011"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0055","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1055\/s-2008-1052551","article-title":"Sanfilippo disease, type A with some features of ceroid-lipofuscinosis","volume":"16","author":"Wisniewski","year":"1985","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0060","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1212\/01.wnl.0000252825.85947.2f","article-title":"Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1","volume":"68","author":"Ramadan","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0065","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1212\/WNL.0b013e3181cff70d","article-title":"CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL","volume":"74","author":"Xin","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0070","first-page":"109","article-title":"Adult neuronal ceroid lipofuscinosis (Kufs' disease) in two siblings of an Irish family","volume":"19","author":"Callagy","year":"2000","journal-title":"Clin. Neuropathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0075","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.2012.11.014_bb0080","first-page":"231","article-title":"Ultrastructure of brain and retina in Kufs' disease (adult type-ceroid-lipofuscinosis)","volume":"6","author":"Martin","year":"1987","journal-title":"Clin. Neuropathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0085","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1159\/000046477","article-title":"Ultrastructure of the retina in adult neuronal ceroid lipofuscinosis","volume":"162","author":"Goebel","year":"1998","journal-title":"Acta Anat. (Basel)"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0090","doi-asserted-by":"crossref","first-page":"1709","DOI":"10.1212\/01.wnl.0000335164.02634.f6","article-title":"Early-onset dementia with prolonged occipital seizures: an atypical case of Kufs disease","volume":"71","author":"Zini","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0095","doi-asserted-by":"crossref","first-page":"13854","DOI":"10.1073\/pnas.0606137103","article-title":"Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6","volume":"103","author":"Poet","year":"2006","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0100","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.2012.11.014_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.2012.11.014_bb0110","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.2012.11.014_bb0115","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0022-510X(01)00546-9","article-title":"Autosomal dominant Kufs' disease: a cause of early onset dementia","volume":"188","author":"Josephson","year":"2001","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0120","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1111\/j.1750-3639.2003.tb00486.x","article-title":"Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency","volume":"13","author":"Nijssen","year":"2003","journal-title":"Brain Pathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0125","doi-asserted-by":"crossref","first-page":"481","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.2012.11.014_bb0130","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1046\/j.1528-1157.2003.39802.x","article-title":"Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama","volume":"44","author":"Burneo","year":"2003","journal-title":"Epilepsia"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0135","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1056\/NEJMcpc1013927","article-title":"Case records of the Massachusetts General Hospital. Case 8-2011. A 32-year-old woman with seizures and cognitive decline","volume":"364","author":"Sims","year":"2011","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0140","doi-asserted-by":"crossref","first-page":"e29729","DOI":"10.1371\/journal.pone.0029729","article-title":"Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families","volume":"7","author":"Velinov","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0145","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.2012.11.014_bb0150","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.2012.11.014_bb0155","series-title":"Handbook of Neurology","first-page":"588","article-title":"The neuronal ceroid-lipofuscinoses (Batten\u2013Vogt syndrome)","author":"Zeman","year":"1970"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0160","first-page":"203","article-title":"The neuronal ceroid-lipofuscinoses","volume":"3","author":"Zeman","year":"1976","journal-title":"Prog. Neuropathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0165","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/ajmg.1320280529","article-title":"Electron microscopy in the diagnosis of lysosomal storage diseases","volume":"3","author":"Vogler","year":"1987","journal-title":"Am. J. Med. Genet. Suppl."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0170","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1055\/s-0028-1091731","article-title":"Involvement of sural nerve in neuronal ceroid-lipofuscinoses: report of two cases","volume":"4","author":"Joosten","year":"1973","journal-title":"Neurp\u00e4diatrie"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0175","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1093\/brain\/96.4.833","article-title":"Cytoplasmic inclusions in the vermiform appendix and skeletal muscle in two types of so-called neuronal ceroid-lipofuscinosis","volume":"96","author":"Rapola","year":"1973","journal-title":"Brain"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0180","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1136\/jnnp.38.10.985","article-title":"Significance of muscle biopsies in neuronal ceroid-lipofuscinoses","volume":"38","author":"Goebel","year":"1975","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0185","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1001\/archneur.1976.00500090036007","article-title":"Late-infantile neuronal ceroid-lipofuscinosis. An ultrastructural study of lymphocyte inclusions","volume":"33","author":"Markesbery","year":"1976","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0190","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1007\/BF00688560","article-title":"Ultrastructural study of the vacuoles in the peripheral lymphocytes in juvenile amaurotic idiocy. Juvenile form of generalized ceroid lipofuscinosis","volume":"38","author":"Stekhoven","year":"1977","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0195","first-page":"263","article-title":"Involvement of the skin in late infantile and juvenile amaurotic idiocies (neuronal ceroid-lipofuscinoses)","volume":"9","author":"Martin","year":"1974","journal-title":"Pathol. Eur."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0200","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/0022-510X(84)90082-0","article-title":"Diagnostic role of skin or conjunctival biopsies in neurological disorders. An update","volume":"65","author":"Ceuterick","year":"1984","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0205","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1136\/adc.50.10.753","article-title":"Reassessment of rectal approach to neuropathology in childhood","volume":"50","author":"Brett","year":"1975","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0210","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/S0046-8177(84)80034-9","article-title":"Suction biopsy of rectal mucosa in the diagnosis of infantile and juvenile types of neuronal ceroid lipofuscinosis","volume":"15","author":"Rapola","year":"1984","journal-title":"Hum. Pathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0215","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."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0220","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/0022-510X(78)90087-4","article-title":"Early-juvenile Batten's disease \u2014 a 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.2012.11.014_bb0225","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1080\/01913120490275231","article-title":"The problematic issue of Kufs disease diagnosis as performed on rectal biopsies: a case report","volume":"28","author":"Pasquinelli","year":"2004","journal-title":"Ultrastruct. Pathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0230","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.2012.11.014_bb0235","series-title":"The Neuronal Ceroid Lipofuscinoses (Batten Disease)","first-page":"24","article-title":"NCL diagnosis and algorithms (chapter 3)","author":"Kohlsch\u00fctter","year":"2011"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0240","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.2012.11.014_bb0245","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1007\/s004010050866","article-title":"In vivo diagnosis of Kufs' disease by extracerebral biopsies","volume":"96","author":"Gelot","year":"1998","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0250","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1016\/j.bbrc.2008.12.159","article-title":"Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6","volume":"379","author":"Cannelli","year":"2009","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0255","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. Part 1. A clinical study of 15 patients","volume":"18","author":"Santavuori","year":"1973","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0260","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.2012.11.014_bb0265","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1093\/hmg\/7.2.291","article-title":"Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits","volume":"7","author":"Mitchison","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0270","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/ana.1103","article-title":"Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease","volume":"50","author":"van Diggelen","year":"2001","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0275","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1111\/j.1750-3639.1998.tb00140.x","article-title":"Extracerebral biopsy in lysosomal and peroxisomal disorders. Ultrastructural findings","volume":"8","author":"Ceuterick-de Groote","year":"1998","journal-title":"Brain Pathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0280","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1080\/01913120500406566","article-title":"Diagnosis of neuronal ceroid lipofuscinosis (Batten disease) by electron microscopy in peripheral blood specimens","volume":"30","author":"Anderson","year":"2006","journal-title":"Ultrastruct. Pathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0285","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1136\/jcp.2005.027045","article-title":"Blood film examination for vacuolated lymphocytes in the diagnosis of metabolic disorders; retrospective experience of more than 2500 cases from a single centre","volume":"58","author":"Anderson","year":"2005","journal-title":"J. Clin. Pathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0290","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. Part 2. Morphological and biochemical studies","volume":"18","author":"Haltia","year":"1973","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0295","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.2012.11.014_bb0300","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/0304-3940(90)90176-A","article-title":"Altered amyloid \u03b2-protein precursor processing in brains of patients with neuronal ceroid lipofuscinosis","volume":"120","author":"Wisniewski","year":"1990","journal-title":"Neurosci. Lett."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0305","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1080\/01913120601169469","article-title":"Electron microscopy of chorionic villus samples for prenatal diagnosis of lysosomal storage disorders","volume":"31","author":"Fowler","year":"2007","journal-title":"Ultrastruct. Pathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0310","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1172\/JCI3112","article-title":"Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.","volume":"102","author":"Das","year":"1998","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0315","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1093\/hmg\/6.4.591","article-title":"Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosome 11p15 and 15q21\u201323","volume":"6","author":"Sharp","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0320","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1042\/bj2750269","article-title":"Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis)","volume":"275","author":"Hall","year":"1991","journal-title":"Biochem. J."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0325","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1111\/j.1750-3639.1996.tb00850.x","article-title":"Neuronal ceroid-lipofuscinosis \u2014 late-infantile or Jansky\u2013Bielschowsky type \u2014 revisited","volume":"6","author":"Goebel","year":"1996","journal-title":"Brain Pathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0330","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1002\/1531-8249(200002)47:2<254::AID-ANA19>3.0.CO;2-7","article-title":"Prenatal testing for late infantile neuronal ceroid lipofuscinosis","volume":"47","author":"Berry-Kravis","year":"2000","journal-title":"Ann. Neurol."},{"issue":"Suppl. A","key":"10.1016\/j.bbadis.2012.11.014_bb0335","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1053\/ejpn.2000.0460","article-title":"Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2)","volume":"5","author":"Van Diggelen","year":"2001","journal-title":"Eur. J. Paediatr. Neurol."},{"issue":"Suppl. A","key":"10.1016\/j.bbadis.2012.11.014_bb0340","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1053\/ejpn.2000.0461","article-title":"Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl-protein thioesterase and tripeptidyl-peptidase I activities","volume":"5","author":"Young","year":"2001","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0345","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1002\/pd.1970130907","article-title":"Fetal tissue involvement in the late infantile type of neuronal ceroid lipofuscinosis","volume":"13","author":"Chow","year":"1993","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0350","series-title":"The Neuronal Ceroid Lipofuscinoses (Batten Disease)","first-page":"361","article-title":"Appendix\u00a01: NCL incidence and prevalence data (chapter 23)","author":"Williams","year":"2011"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0355","series-title":"The Neuronal Ceroid Lipofuscinoses (Batten Disease)","first-page":"110","article-title":"CLN3 (chapter 8)","author":"Aberg","year":"2011"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0360","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1111\/j.1651-2227.1988.tb10770.x","article-title":"Juvenile neuronal ceroid lipofuscinosis (JNCL): quantitative description of its clinical variability","volume":"77","author":"Kohlsch\u00fctter","year":"1988","journal-title":"Acta Paediatr. Scand."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0365","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1212\/WNL.0b013e31821435bd","article-title":"Cardiac involvement in juvenile neuronal ceroid lipofuscinosis","volume":"76","author":"Ostergaard","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0370","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1002\/pd.1970090407","article-title":"First-trimester diagnosis of juvenile neuronal ceroid lipofuscinosis by demonstration of fingerprint inclusions in chorionic villi","volume":"9","author":"Conradi","year":"1989","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0375","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1111\/j.1750-3639.1998.tb00141.x","article-title":"Prenatal diagnosis of lysosomal storage diseases","volume":"8","author":"Lake","year":"1998","journal-title":"Brain Pathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0380","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.cell.2007.12.018","article-title":"Autophagy in the pathogenesis of disease","volume":"132","author":"Levine","year":"2008","journal-title":"Cell"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0385","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1111\/j.1750-3639.2004.tb00502.x","article-title":"Selectivity and types of cell death in the neuronal ceroid lipofuscinoses (NCLs). Symposium: The neuronal ceroid lipofuscinoses (NCL) \u2014 a group of lysosomal diseases come of age","volume":"14","author":"Mitchison","year":"2004","journal-title":"Brain Pathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0390","doi-asserted-by":"crossref","first-page":"20483","DOI":"10.1074\/jbc.M602180200","article-title":"Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis","volume":"281","author":"Cao","year":"2006","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0395","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1128\/MCB.06726-11","article-title":"The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting","volume":"32","author":"Mamo","year":"2012","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0400","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1212\/01.WNL.0000151974.44980.F1","article-title":"A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset","volume":"64","author":"Pineda-Trujillo","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0405","doi-asserted-by":"crossref","first-page":"E651","DOI":"10.1002\/humu.21010","article-title":"Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship","volume":"30","author":"Lebrun","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0410","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1055\/s-2007-981449","article-title":"Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis","volume":"38","author":"Cannelli","year":"2007","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0415","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1002\/(SICI)1097-0223(199907)19:7<685::AID-PD603>3.0.CO;2-F","article-title":"Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5)","volume":"19","author":"Rapola","year":"1999","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0420","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1007\/s00415-003-1050-z","article-title":"Clinicopathological and molecular characterization of the neuronal ceroid lipofuscinosis in the Portuguese population","volume":"250","author":"Teixeira","year":"2003","journal-title":"J. Neurol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0425","first-page":"1","article-title":"Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies","volume":"46","author":"Topcu","year":"2004","journal-title":"Turk. J. Pediatr."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0430","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1093\/brain\/awn366","article-title":"Mutations in CLN7\/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis","volume":"132","author":"Kousi","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0435","doi-asserted-by":"crossref","first-page":"E530","DOI":"10.1002\/humu.20975","article-title":"Mutations in MFSD8\/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis","volume":"30","author":"Aiello","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0440","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.2012.11.014_bb0445","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1002\/humu.20018","article-title":"Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy","volume":"23","author":"Ranta","year":"2004","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0450","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1111\/j.1399-0004.2009.01285.x","article-title":"Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis","volume":"77","author":"Reinhardt","year":"2010","journal-title":"Clin. Genet."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0455","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1111\/j.1399-0004.2011.01777.x","article-title":"Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion","volume":"81","author":"Allen","year":"2012","journal-title":"Clin. Genet."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0460","doi-asserted-by":"crossref","first-page":"2784","DOI":"10.1074\/jbc.M509483200","article-title":"The CLN9 protein, a regulator of dihydroceramide synthase","volume":"281","author":"Schulz","year":"2006","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0465","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1136\/jnnp.4.3-4.175","article-title":"A congenital form of amaurotic family idiocy","volume":"4","author":"Norman","year":"1941","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0470","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.2012.11.014_bb0475","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.2012.11.014_bb0480","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1097\/NEN.0b013e318238fc28","article-title":"Morphologic and functional correlates of synaptic pathology in the cathepsin D knockout mouse model of congenital neuronal ceroid lipofuscinosis","volume":"70","author":"Koch","year":"2011","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0485","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1007\/s00401-008-0426-7","article-title":"Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN 10)","volume":"117","author":"Fritchie","year":"2009","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0490","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\u2013proteasome system","volume":"91","author":"Staropoli","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0495","first-page":"109","article-title":"Adult neuronal ceroid-lipofuscinosis","volume":"8","author":"Goebel","year":"1989","journal-title":"Clin. Neuropathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0500","first-page":"259","article-title":"Kufs' disease: diagnostic difficulties in the examination of extracerebral biopsies","volume":"47","author":"Lewandowska","year":"2009","journal-title":"Folia Neuropathol."},{"key":"10.1016\/j.bbadis.2012.11.014_bb0505","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1093\/brain\/111.1.27","article-title":"Kufs' disease: a critical reappraisal","volume":"111","author":"Berkovic","year":"1988","journal-title":"Brain"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0510","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.2012.11.014_bb0515","series-title":"13th International Conference on Neuronal Ceroid Lipofuscinoses (Batten Disease), London\/UK, March 28\u201331, 2012, Abstract Book","article-title":"Mutations in the gene encoding Cathepsin F are a cause of type B Kufs disease","author":"Smith","year":"2012"},{"key":"10.1016\/j.bbadis.2012.11.014_bb0520","series-title":"The Neuronal Ceroid Lipofuscinoses (Batten Disease)","first-page":"284","article-title":"Large animal models (chapter 18)","author":"Palmer","year":"2011"}],"container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443912002748?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443912002748?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T15:27:42Z","timestamp":1643729262000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0925443912002748"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11]]},"references-count":104,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2013,11]]}},"alternative-id":["S0925443912002748"],"URL":"https:\/\/doi.org\/10.1016\/j.bbadis.2012.11.014","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":"Human pathology in NCL","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.2012.11.014","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"}]}}