{"id":"https://openalex.org/W2166770352","doi":null,"title":"CLN5 : from mutation to defective protein and clinical phenotype","display_name":"CLN5 : from mutation to defective protein and clinical phenotype","publication_year":2004,"publication_date":"2004-03-01","ids":{"openalex":"https://openalex.org/W2166770352","mag":"2166770352"},"language":"en","primary_location":{"id":"pmh:oai:helda.helsinki.fi:10138/20502","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10138/20502","pdf_url":"http://hdl.handle.net/10138/20502","source":{"id":"https://openalex.org/S4210213322","display_name":"Ty\u00f6v\u00e4entutkimus Vuosikirja","issn_l":"0784-1272","issn":["0784-1272","1459-7780"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":["ddh","jufo-1"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Doctoral dissertation"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://hdl.handle.net/10138/20502","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5073111260","display_name":"Ville Holmberg","orcid":"https://orcid.org/0000-0002-5866-9634","observed_orcids":["https://orcid.org/0000-0002-5866-9634"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Ville Holmberg","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-5866-9634","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5073111260"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":2,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9980000257492065,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9980000257492065,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0007999999797903001,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0007999999797903001,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/cln5","display_name":"CLN5","score":0.9629999995231628},{"id":"https://openalex.org/keywords/neuronal-ceroid-lipofuscinoses","display_name":"neuronal ceroid lipofuscinosis","score":0.8450000286102295},{"id":"https://openalex.org/keywords/clinical-phenotype","display_name":"clinical phenotype","score":0.847000002861023},{"id":"https://openalex.org/keywords/disease-gene-identification","display_name":"disease gene identification","score":0.5960000157356262},{"id":"https://openalex.org/keywords/animal-models","display_name":"animal models","score":0.7559999823570251},{"id":"https://openalex.org/keywords/molecular-pathogenesis","display_name":"molecular pathogenesis","score":0.9440000057220459},{"id":"https://openalex.org/keywords/diagnosis","display_name":"diagnosis","score":0.6690000295639038},{"id":"https://openalex.org/keywords/treatment","display_name":"treatment","score":0.9210000038146973},{"id":"https://openalex.org/keywords/neuroimaging","display_name":"neuroimaging","score":0.8190000057220459},{"id":"https://openalex.org/keywords/neuropathology","display_name":"neuropathology","score":0.8069999814033508}],"concepts":[{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.5904099941253662},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5634037256240845},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.5291217565536499},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.5020608901977539},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.49311038851737976},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.48623958230018616},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4783046841621399},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.47701025009155273},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.46488282084465027},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.45812639594078064},{"id":"https://openalex.org/C2988867146","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Human disease","level":3,"score":0.4492819607257843},{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.4200045168399811},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.39238959550857544},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.3706026077270508},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3282269835472107},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.28305351734161377},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.20337018370628357},{"id":"https://openalex.org/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","level":1,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:helda.helsinki.fi:10138/20502","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10138/20502","pdf_url":"http://hdl.handle.net/10138/20502","source":{"id":"https://openalex.org/S4210213322","display_name":"Ty\u00f6v\u00e4entutkimus Vuosikirja","issn_l":"0784-1272","issn":["0784-1272","1459-7780"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":["ddh","jufo-1"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Doctoral dissertation"},{"id":"pmh:oai:www.julkari.fi:10024/78459","doi":null,"is_oa":true,"landing_page_url":"http://www.julkari.fi/handle/10024/78459","pdf_url":"http://www.julkari.fi/handle/10024/78459","source":{"id":"https://openalex.org/S4306402058","display_name":"STM:n Hallinnonalan avoin julkaisuarkisto (Julkari)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":null},{"id":"mag:2166770352","doi":null,"is_oa":false,"landing_page_url":"http://ethesis.helsinki.fi/julkaisut/laa/haart/vk/holmberg/cln5from.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:helda.helsinki.fi:10138/20502","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10138/20502","pdf_url":"http://hdl.handle.net/10138/20502","source":{"id":"https://openalex.org/S4210213322","display_name":"Ty\u00f6v\u00e4entutkimus Vuosikirja","issn_l":"0784-1272","issn":["0784-1272","1459-7780"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":["ddh","jufo-1"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Doctoral dissertation"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.98580002784729,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320310751","display_name":"Suomen L\u00e4\u00e4ketieteen S\u00e4\u00e4ti\u00f6","ror":"https://ror.org/0593mby10"},{"id":"https://openalex.org/F4320311816","display_name":"Finska L\u00e4kares\u00e4llskapet","ror":"https://ror.org/04vbzm272"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2166770352.pdf","grobid_xml":"https://content.openalex.org/works/W2166770352.grobid-xml"},"referenced_works_count":173,"referenced_works":["https://openalex.org/W15453418","https://openalex.org/W84265137","https://openalex.org/W139381612","https://openalex.org/W156897034","https://openalex.org/W204452232","https://openalex.org/W209161350","https://openalex.org/W1485581812","https://openalex.org/W1486081787","https://openalex.org/W1489420155","https://openalex.org/W1493919779","https://openalex.org/W1503369988","https://openalex.org/W1522289497","https://openalex.org/W1545221970","https://openalex.org/W1546743612","https://openalex.org/W1554372034","https://openalex.org/W1555972529","https://openalex.org/W1560487523","https://openalex.org/W1565551208","https://openalex.org/W1594856149","https://openalex.org/W1597077894","https://openalex.org/W1597721823","https://openalex.org/W1598751932","https://openalex.org/W1651773168","https://openalex.org/W1867061005","https://openalex.org/W1884093662","https://openalex.org/W1933952120","https://openalex.org/W1949772429","https://openalex.org/W1963691080","https://openalex.org/W1963819382","https://openalex.org/W1967832443","https://openalex.org/W1969757078","https://openalex.org/W1970047246","https://openalex.org/W1971403296","https://openalex.org/W1972104027","https://openalex.org/W1974437087","https://openalex.org/W1976543920","https://openalex.org/W1978960907","https://openalex.org/W1982747754","https://openalex.org/W1984073321","https://openalex.org/W1984560980","https://openalex.org/W1986343208","https://openalex.org/W1986603794","https://openalex.org/W1988114014","https://openalex.org/W1988967065","https://openalex.org/W1990911694","https://openalex.org/W1992595091","https://openalex.org/W1994458586","https://openalex.org/W1995420136","https://openalex.org/W1995924881","https://openalex.org/W1997221947","https://openalex.org/W1998217527","https://openalex.org/W2000165076","https://openalex.org/W2000838235","https://openalex.org/W2005171746","https://openalex.org/W2005633684","https://openalex.org/W2007071486","https://openalex.org/W2009725600","https://openalex.org/W2011933633","https://openalex.org/W2011950472","https://openalex.org/W2015584925","https://openalex.org/W2016288856","https://openalex.org/W2016874659","https://openalex.org/W2019091774","https://openalex.org/W2019838976","https://openalex.org/W2020278806","https://openalex.org/W2021732663","https://openalex.org/W2026116237","https://openalex.org/W2027190005","https://openalex.org/W2028279880","https://openalex.org/W2029388473","https://openalex.org/W2031775911","https://openalex.org/W2032118018","https://openalex.org/W2035450424","https://openalex.org/W2036716614","https://openalex.org/W2038019597","https://openalex.org/W2040107841","https://openalex.org/W2041057649","https://openalex.org/W2041082830","https://openalex.org/W2044643509","https://openalex.org/W2049352641","https://openalex.org/W2050511200","https://openalex.org/W2050717506","https://openalex.org/W2051761428","https://openalex.org/W2053476833","https://openalex.org/W2054169892","https://openalex.org/W2058664570","https://openalex.org/W2059092093","https://openalex.org/W2059277097","https://openalex.org/W2060462371","https://openalex.org/W2061941091","https://openalex.org/W2063728852","https://openalex.org/W2065225156","https://openalex.org/W2065637989","https://openalex.org/W2068396667","https://openalex.org/W2073095381","https://openalex.org/W2073899582","https://openalex.org/W2073917725","https://openalex.org/W2074696689","https://openalex.org/W2074920095","https://openalex.org/W2077654997","https://openalex.org/W2077753472","https://openalex.org/W2078663938","https://openalex.org/W2078738767","https://openalex.org/W2079090806","https://openalex.org/W2081673312","https://openalex.org/W2081948380","https://openalex.org/W2081993185","https://openalex.org/W2082925865","https://openalex.org/W2084548862","https://openalex.org/W2084556621","https://openalex.org/W2085119174","https://openalex.org/W2087561235","https://openalex.org/W2088234686","https://openalex.org/W2088514390","https://openalex.org/W2090071972","https://openalex.org/W2092784580","https://openalex.org/W2093978551","https://openalex.org/W2098311021","https://openalex.org/W2102335037","https://openalex.org/W2103523741","https://openalex.org/W2103894947","https://openalex.org/W2107868831","https://openalex.org/W2108155784","https://openalex.org/W2109615602","https://openalex.org/W2110241818","https://openalex.org/W2110574733","https://openalex.org/W2111119053","https://openalex.org/W2116060004","https://openalex.org/W2117208578","https://openalex.org/W2117919289","https://openalex.org/W2124523908","https://openalex.org/W2124772147","https://openalex.org/W2126213759","https://openalex.org/W2127230663","https://openalex.org/W2128886688","https://openalex.org/W2131456312","https://openalex.org/W2132540143","https://openalex.org/W2135911291","https://openalex.org/W2136451426","https://openalex.org/W2137776860","https://openalex.org/W2141010238","https://openalex.org/W2141652419","https://openalex.org/W2143413552","https://openalex.org/W2144968601","https://openalex.org/W2146715646","https://openalex.org/W2147439920","https://openalex.org/W2150801858","https://openalex.org/W2151464048","https://openalex.org/W2152664025","https://openalex.org/W2152770371","https://openalex.org/W2152773842","https://openalex.org/W2156744093","https://openalex.org/W2156881505","https://openalex.org/W2158714788","https://openalex.org/W2163557498","https://openalex.org/W2163711162","https://openalex.org/W2164573757","https://openalex.org/W2164672515","https://openalex.org/W2166500502","https://openalex.org/W2167435540","https://openalex.org/W2168540074","https://openalex.org/W2168731476","https://openalex.org/W2168909179","https://openalex.org/W2170681065","https://openalex.org/W2408306580","https://openalex.org/W2468936883","https://openalex.org/W2611616371","https://openalex.org/W2741340870","https://openalex.org/W2764167475","https://openalex.org/W2887283813","https://openalex.org/W2955504961","https://openalex.org/W3119707353","https://openalex.org/W7040002285"],"related_works":["https://openalex.org/W6993032137","https://openalex.org/W2082236966","https://openalex.org/W7025026338","https://openalex.org/W7036636282","https://openalex.org/W1145255028","https://openalex.org/W7155170454","https://openalex.org/W3167066663","https://openalex.org/W7206752159","https://openalex.org/W4245588929","https://openalex.org/W2087793114"],"abstract_inverted_index":{"9":[0],"REVIEW":[1],"OF":[2,127],"THE":[3,128],"LITERATURE":[4],"10":[7,12,20],"1.":[8],"HUMAN":[9],"GENETICS":[10],"1.1":[13],"The":[14,22],"Finnish":[15],"Disease":[16,32],"Heritage":[17],"1.2":[21],"Human":[23,31],"Genome":[24],"Project":[25],"12":[27],"1.3":[28],"Identification":[29],"of":[30],"Genes":[33,66],"13":[36],"1.4":[37],"Functional":[38],"and":[39,59,67],"Comparative":[40],"Genomics":[41],"15":[44],"2.":[45],"NEURONAL":[46],"CEROID":[47],"LIPOFUSCINOSES":[48],"18":[50,56,63],"2.1":[51],"Historical":[52],"Background":[53,114],"2.2":[57],"Classification":[58],"Nomenclature":[60],"2.3":[64],"Defective":[65],"Proteins":[68],"20":[71],"2.4":[72],"Animal":[73],"Models":[74],"23":[77],"2.5":[78],"New":[79],"Approaches":[80],"to":[81],"Characterize":[82],"Molecular":[83],"Pathogenesis":[84],"26":[87],"2.6":[88],"Diagnostics":[89],"27":[92],"2.7":[93],"Therapies":[94],"28":[97],"3.":[98],"CLN5":[99],"(FINNISH":[100],"VARIANT":[101],"LATE":[102],"INFANTILE":[103],"NCL)":[104],"30":[106,111],"3.1":[107],"Clinical":[108],"Features":[109],"3.2":[112],"Genetic":[113],"31":[116],"3.3":[117],"Pathology":[118],"33":[120],"3.4":[121],"Brain":[122],"Imaging":[123],"34":[125],"AIMS":[126],"STUDY":[129],"35":[131],"MATERIALS":[132],"AND":[133],"METHODS":[134],"36":[137],"ETHICAL":[138],"CONSIDERATIONS":[139],"38":[141]},"counts_by_year":[],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2016-06-24T00:00:00"}