{"id":"https://openalex.org/W1561967962","doi":null,"title":"Investigations on molecular aspects of lethal congenital contracture syndrome","display_name":"Investigations on molecular aspects of lethal congenital contracture syndrome","publication_year":2006,"publication_date":"2006-01-01","ids":{"openalex":"https://openalex.org/W1561967962","mag":"1561967962"},"language":"en","primary_location":{"id":"pmh:oai:helda.helsinki.fi:10138/20576","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10138/20576","pdf_url":"http://hdl.handle.net/10138/20576","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/10138/20576","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5082522273","display_name":"Niklas A. Pakkasj\u00e4rvi","orcid":"https://orcid.org/0000-0002-1798-3416","observed_orcids":["https://orcid.org/0000-0002-1798-3416"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Niklas Pakkasj\u00e4rvi","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-1798-3416","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5082522273"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":1,"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/T13107","display_name":"Congenital limb and hand anomalies","score":0.9785000085830688,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental Biology"},"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"}},"topics":[{"id":"https://openalex.org/T13107","display_name":"Congenital limb and hand anomalies","score":0.9785000085830688,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental Biology"},"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.008799999952316284,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.003800000064074993,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/arthrogryposis","display_name":"arthrogryposis","score":0.8939999938011169},{"id":"https://openalex.org/keywords/motoneuron-development","display_name":"motoneuron development","score":0.8050000071525574},{"id":"https://openalex.org/keywords/intrauterine-fetal-death","display_name":"intrauterine fetal death","score":0.3490000069141388},{"id":"https://openalex.org/keywords/molecular-genetics","display_name":"molecular genetics","score":0.4869999885559082}],"concepts":[{"id":"https://openalex.org/C2781111119","wikidata":"https://www.wikidata.org/wiki/Q708165","display_name":"Arthrogryposis","level":2,"score":0.8913705348968506},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.46375659108161926},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.39225339889526367},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.357451856136322},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3544686436653137}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:helda.helsinki.fi:10138/20576","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10138/20576","pdf_url":"http://hdl.handle.net/10138/20576","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:10024/78591","doi":null,"is_oa":true,"landing_page_url":"http://www.julkari.fi/handle/10024/78591","pdf_url":"http://www.julkari.fi/handle/10024/78591","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:1561967962","doi":null,"is_oa":false,"landing_page_url":"http://ethesis.helsinki.fi/julkaisut/laa/haart/vk/pakkasjarvi/investig.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:10138/20576","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10138/20576","pdf_url":"http://hdl.handle.net/10138/20576","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":[{"score":0.9789000153541565,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320311816","display_name":"Finska L\u00e4kares\u00e4llskapet","ror":"https://ror.org/04vbzm272"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1561967962.pdf","grobid_xml":"https://content.openalex.org/works/W1561967962.grobid-xml"},"referenced_works_count":235,"referenced_works":["https://openalex.org/W77197169","https://openalex.org/W84021056","https://openalex.org/W117868678","https://openalex.org/W137758102","https://openalex.org/W238668910","https://openalex.org/W284511682","https://openalex.org/W313446398","https://openalex.org/W1037053322","https://openalex.org/W1489420155","https://openalex.org/W1503270785","https://openalex.org/W1507275008","https://openalex.org/W1511730061","https://openalex.org/W1534899265","https://openalex.org/W1598427976","https://openalex.org/W1599090051","https://openalex.org/W1607777232","https://openalex.org/W1607849052","https://openalex.org/W1631692643","https://openalex.org/W1647844878","https://openalex.org/W1665419471","https://openalex.org/W1884093662","https://openalex.org/W1912613233","https://openalex.org/W1920303762","https://openalex.org/W1961999388","https://openalex.org/W1963528166","https://openalex.org/W1963948469","https://openalex.org/W1964136077","https://openalex.org/W1964451213","https://openalex.org/W1965382193","https://openalex.org/W1965681567","https://openalex.org/W1966338613","https://openalex.org/W1966435498","https://openalex.org/W1967542752","https://openalex.org/W1968246860","https://openalex.org/W1971541955","https://openalex.org/W1972629220","https://openalex.org/W1972812883","https://openalex.org/W1973972775","https://openalex.org/W1974115274","https://openalex.org/W1975449325","https://openalex.org/W1975991432","https://openalex.org/W1977130610","https://openalex.org/W1977350867","https://openalex.org/W1979493932","https://openalex.org/W1980477780","https://openalex.org/W1985058124","https://openalex.org/W1985852175","https://openalex.org/W1987885030","https://openalex.org/W1988189150","https://openalex.org/W1988190121","https://openalex.org/W1988450679","https://openalex.org/W1989501592","https://openalex.org/W1990237107","https://openalex.org/W1990923337","https://openalex.org/W1992002234","https://openalex.org/W1996428510","https://openalex.org/W1996484852","https://openalex.org/W1996749102","https://openalex.org/W1997467265","https://openalex.org/W1998439486","https://openalex.org/W2000052961","https://openalex.org/W2001544973","https://openalex.org/W2002502450","https://openalex.org/W2005571224","https://openalex.org/W2005763203","https://openalex.org/W2006047257","https://openalex.org/W2009266803","https://openalex.org/W2009418361","https://openalex.org/W2009493200","https://openalex.org/W2011870229","https://openalex.org/W2012016770","https://openalex.org/W2014200126","https://openalex.org/W2014334386","https://openalex.org/W2016377579","https://openalex.org/W2016568386","https://openalex.org/W2017182831","https://openalex.org/W2017845174","https://openalex.org/W2019705725","https://openalex.org/W2020605925","https://openalex.org/W2020790488","https://openalex.org/W2020830179","https://openalex.org/W2020865850","https://openalex.org/W2021435502","https://openalex.org/W2021608281","https://openalex.org/W2021806533","https://openalex.org/W2021931341","https://openalex.org/W2023539986","https://openalex.org/W2023884049","https://openalex.org/W2026599973","https://openalex.org/W2026652568","https://openalex.org/W2027240424","https://openalex.org/W2027437890","https://openalex.org/W2028000816","https://openalex.org/W2028948697","https://openalex.org/W2029225256","https://openalex.org/W2033364737","https://openalex.org/W2033843407","https://openalex.org/W2033978875","https://openalex.org/W2034201031","https://openalex.org/W2035547800","https://openalex.org/W2035653659","https://openalex.org/W2036401671","https://openalex.org/W2038093808","https://openalex.org/W2038643386","https://openalex.org/W2040096357","https://openalex.org/W2040191060","https://openalex.org/W2043745353","https://openalex.org/W2044110964","https://openalex.org/W2044135901","https://openalex.org/W2044186265","https://openalex.org/W2049880280","https://openalex.org/W2049993468","https://openalex.org/W2050717506","https://openalex.org/W2052502435","https://openalex.org/W2053303032","https://openalex.org/W2054196675","https://openalex.org/W2054463240","https://openalex.org/W2055043387","https://openalex.org/W2055390759","https://openalex.org/W2056181708","https://openalex.org/W2057560198","https://openalex.org/W2062810186","https://openalex.org/W2063838755","https://openalex.org/W2064127449","https://openalex.org/W2065637989","https://openalex.org/W2066844939","https://openalex.org/W2067161603","https://openalex.org/W2067171325","https://openalex.org/W2067198472","https://openalex.org/W2068227227","https://openalex.org/W2070378734","https://openalex.org/W2071126398","https://openalex.org/W2073437876","https://openalex.org/W2073707753","https://openalex.org/W2073917725","https://openalex.org/W2076508592","https://openalex.org/W2076788657","https://openalex.org/W2077003408","https://openalex.org/W2077318431","https://openalex.org/W2078532650","https://openalex.org/W2078866524","https://openalex.org/W2081235375","https://openalex.org/W2081818708","https://openalex.org/W2082035993","https://openalex.org/W2082184369","https://openalex.org/W2084040587","https://openalex.org/W2084652820","https://openalex.org/W2084761937","https://openalex.org/W2084994858","https://openalex.org/W2088851040","https://openalex.org/W2089599634","https://openalex.org/W2093252175","https://openalex.org/W2093749821","https://openalex.org/W2096386031","https://openalex.org/W2097954641","https://openalex.org/W2098179655","https://openalex.org/W2098189071","https://openalex.org/W2101216663","https://openalex.org/W2102085111","https://openalex.org/W2102129370","https://openalex.org/W2103017472","https://openalex.org/W2106127625","https://openalex.org/W2107246857","https://openalex.org/W2107339893","https://openalex.org/W2107635158","https://openalex.org/W2108707301","https://openalex.org/W2110551795","https://openalex.org/W2111454239","https://openalex.org/W2111606353","https://openalex.org/W2112644552","https://openalex.org/W2112692168","https://openalex.org/W2113150125","https://openalex.org/W2117532375","https://openalex.org/W2120130751","https://openalex.org/W2120580225","https://openalex.org/W2120805065","https://openalex.org/W2121780827","https://openalex.org/W2123939448","https://openalex.org/W2125266161","https://openalex.org/W2125923701","https://openalex.org/W2126466006","https://openalex.org/W2127230663","https://openalex.org/W2128464557","https://openalex.org/W2128937741","https://openalex.org/W2129605816","https://openalex.org/W2130876797","https://openalex.org/W2131211068","https://openalex.org/W2131581981","https://openalex.org/W2133437679","https://openalex.org/W2135215848","https://openalex.org/W2135241886","https://openalex.org/W2135474021","https://openalex.org/W2135713829","https://openalex.org/W2138664009","https://openalex.org/W2139426737","https://openalex.org/W2140446903","https://openalex.org/W2141310245","https://openalex.org/W2141652419","https://openalex.org/W2141809016","https://openalex.org/W2144071128","https://openalex.org/W2146517909","https://openalex.org/W2150817988","https://openalex.org/W2151464048","https://openalex.org/W2152447651","https://openalex.org/W2153039235","https://openalex.org/W2153283265","https://openalex.org/W2153767586","https://openalex.org/W2154707264","https://openalex.org/W2154745705","https://openalex.org/W2156269901","https://openalex.org/W2162501119","https://openalex.org/W2163712834","https://openalex.org/W2165483290","https://openalex.org/W2166187656","https://openalex.org/W2168783124","https://openalex.org/W2168909179","https://openalex.org/W2169420688","https://openalex.org/W2169722055","https://openalex.org/W2170048476","https://openalex.org/W2170349574","https://openalex.org/W2318870050","https://openalex.org/W2323937044","https://openalex.org/W2338290121","https://openalex.org/W2341182442","https://openalex.org/W2405685946","https://openalex.org/W2426968611","https://openalex.org/W2464376499","https://openalex.org/W2612812586","https://openalex.org/W2734960546","https://openalex.org/W2764167475","https://openalex.org/W3119707353","https://openalex.org/W4206196398","https://openalex.org/W4206256762","https://openalex.org/W7071203437","https://openalex.org/W7098124190"],"related_works":["https://openalex.org/W2014448775","https://openalex.org/W2019705725","https://openalex.org/W2084994858","https://openalex.org/W2777420890","https://openalex.org/W2417965791","https://openalex.org/W4252699703","https://openalex.org/W2060702886","https://openalex.org/W2312714331","https://openalex.org/W3022322768","https://openalex.org/W2015134433"],"abstract_inverted_index":{"Arthrogryposis":[0],"is":[1,41,49,56,75,88],"a":[2,6,26],"clinical":[3],"description":[4],"of":[5,23,63,85,91,108],"phenotype":[7],"caused":[8],"by":[9,44],"fetal":[10,45,73],"immobility.More":[11],"than":[12],"150":[13],"conditions":[14],"presenting":[15],"with":[16,69],"congenital":[17],"arthrogryposis":[18,24,70],"are":[19,31],"known.Prenatally":[20],"lethal":[21],"cases":[22],"present":[25],"diagnostic":[27],"challenge":[28],"although":[29],"they":[30],"more":[32,78],"frequently":[33],"encountered":[34],"due":[35],"to":[36,60],"improved":[37],"ultrasound":[38],"methods.Post-mortem":[39],"diagnostics":[40],"often":[42],"hampered":[43],"maseration.Therefore,":[46],"accurate":[47],"diagnosis":[48],"at":[50],"times":[51],"only":[52],"descriptive":[53],"and":[54,71,83],"prognosis":[55],"not":[57],"always":[58],"possible":[59],"predict.The":[61],"incidence":[62],"anterior":[64],"horn":[65],"cell":[66],"disorders":[67,87,97],"associated":[68],"early":[72],"demise":[74],"poorly":[76],"known.Thus,":[77],"knowledge":[79],"about":[80],"the":[81,92,105],"genetics":[82],"epidemiology":[84],"these":[86,96],"needed.Importantly,":[89],"identification":[90],"defective":[93],"pathways":[94],"in":[95,104],"would":[98],"most":[99],"probably":[100],"expose":[101],"critical":[102],"elements":[103],"normal":[106],"development":[107],"human":[109],"motoneurons.":[110]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
