{"id":"https://openalex.org/W110478474","doi":"https://doi.org/10.70675/97657fd1z5bf6z41fazbbcbz7dc21c2fccd2","title":"Etude fonctionnelle et structurale de variants rares des contactines et vuln\u00e9rabilit\u00e9 \u00e0 l\u2019autisme","display_name":"Etude fonctionnelle et structurale de variants rares des contactines et vuln\u00e9rabilit\u00e9 \u00e0 l\u2019autisme","publication_year":2013,"publication_date":"2013-10-25","ids":{"openalex":"https://openalex.org/W110478474","doi":"https://doi.org/10.70675/97657fd1z5bf6z41fazbbcbz7dc21c2fccd2","mag":"110478474"},"language":"fr","primary_location":{"id":"doi:10.70675/97657fd1z5bf6z41fazbbcbz7dc21c2fccd2","doi":"https://doi.org/10.70675/97657fd1z5bf6z41fazbbcbz7dc21c2fccd2","is_oa":false,"landing_page_url":"https://doi.org/10.70675/97657fd1z5bf6z41fazbbcbz7dc21c2fccd2","pdf_url":null,"source":{"id":"https://openalex.org/S4406923047","display_name":"theses.fr (ABES)","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Paris 5","raw_type":"dissertation"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://www.theses.fr/2013PA05T069/document","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5046051544","display_name":"Oriane Mercati","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4387156284","display_name":"Universit\u00e9 Paris Descartes","ror":"https://ror.org/0220k9r37","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I4387156284"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Oriane Mercati","raw_affiliation_strings":["Paris 5","G\u00e9n\u00e9tique Humaine et Fonctions Cognitives"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Paris 5","institution_ids":["https://openalex.org/I4387156284"]},{"raw_affiliation_string":"G\u00e9n\u00e9tique Humaine et Fonctions Cognitives","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5046051544"],"corresponding_institution_ids":["https://openalex.org/I4387156284"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.6166999936103821,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.6166999936103821,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T10106","display_name":"Autism Spectrum Disorder Research","score":0.3732999861240387,"subfield":{"id":"https://openalex.org/subfields/2805","display_name":"Cognitive 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/T10077","display_name":"Neuroscience and Neuropharmacology Research","score":0.0024999999441206455,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":0.9399999976158142},{"id":"https://openalex.org/keywords/contactin","display_name":"contactin","score":0.9200000166893005},{"id":"https://openalex.org/keywords/cntn5","display_name":"CNTN5","score":0.8930000066757202},{"id":"https://openalex.org/keywords/cntn6","display_name":"CNTN6","score":0.9990000128746033},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.8230000138282776},{"id":"https://openalex.org/keywords/rare-variants","display_name":"rare variants","score":0.7680000066757202},{"id":"https://openalex.org/keywords/non-synonymous-variants","display_name":"non-synonymous variants","score":0.7179999947547913},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.47200000286102295},{"id":"https://openalex.org/keywords/synaptic-adhesion-proteins","display_name":"synaptic adhesion proteins","score":0.5139999985694885},{"id":"https://openalex.org/keywords/g-protein-coupled-receptors","display_name":"G protein-coupled receptors","score":0.4020000100135803},{"id":"https://openalex.org/keywords/molecular-modeling","display_name":"molecular modeling","score":0.574999988079071},{"id":"https://openalex.org/keywords/protein-structure","display_name":"protein structure","score":0.4300000071525574},{"id":"https://openalex.org/keywords/genetic-risk-factors","display_name":"genetic risk factors","score":0.421999990940094},{"id":"https://openalex.org/keywords/neuroligins","display_name":"neuroligins","score":0.6269999742507935},{"id":"https://openalex.org/keywords/shank","display_name":"shank","score":0.921999990940094},{"id":"https://openalex.org/keywords/myelination","display_name":"myelination","score":0.4659999907016754}],"concepts":[{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.664783239364624},{"id":"https://openalex.org/C15708023","wikidata":"https://www.wikidata.org/wiki/Q80083","display_name":"Humanities","level":1,"score":0.4216855466365814},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.38670578598976135},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3761872947216034}],"mesh":[],"locations_count":5,"locations":[{"id":"doi:10.70675/97657fd1z5bf6z41fazbbcbz7dc21c2fccd2","doi":"https://doi.org/10.70675/97657fd1z5bf6z41fazbbcbz7dc21c2fccd2","is_oa":false,"landing_page_url":"https://doi.org/10.70675/97657fd1z5bf6z41fazbbcbz7dc21c2fccd2","pdf_url":null,"source":{"id":"https://openalex.org/S4406923047","display_name":"theses.fr (ABES)","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Paris 5","raw_type":"dissertation"},{"id":"pmh:2013PA05T069","doi":null,"is_oa":true,"landing_page_url":"http://www.theses.fr/2013PA05T069/document","pdf_url":null,"source":{"id":"https://openalex.org/S4406923047","display_name":"theses.fr (ABES)","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":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Electronic Thesis or Dissertation"},{"id":"pmh:hdl:10068/1015035","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10068/1015035","pdf_url":null,"source":{"id":"https://openalex.org/S4377196900","display_name":"OpenGrey (Institut de l'Information Scientifique et Technique)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1295345811","host_organization_name":"Institut de l'Information Scientifique et Technique","host_organization_lineage":["https://openalex.org/I1295345811"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"U - Thesis"},{"id":"pmh:oai:HAL:tel-01124147v1","doi":null,"is_oa":true,"landing_page_url":"https://hal.science/tel-01124147v1","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"M\u00e9decine humaine et pathologie. Universit\u00e9 Ren\u00e9 Descartes - Paris V, 2013. Fran\u00e7ais. ⟨NNT : 2013PA05T069⟩","raw_type":"info:eu-repo/semantics/doctoralThesis"},{"id":"mag:110478474","doi":null,"is_oa":false,"landing_page_url":"https://tel.archives-ouvertes.fr/tel-01124147/","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:2013PA05T069","doi":null,"is_oa":true,"landing_page_url":"http://www.theses.fr/2013PA05T069/document","pdf_url":null,"source":{"id":"https://openalex.org/S4406923047","display_name":"theses.fr (ABES)","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":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Electronic Thesis or Dissertation"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8999999761581421,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":432,"referenced_works":["https://openalex.org/W57943505","https://openalex.org/W66225797","https://openalex.org/W280048533","https://openalex.org/W576288626","https://openalex.org/W1484187172","https://openalex.org/W1493214217","https://openalex.org/W1496968292","https://openalex.org/W1541267199","https://openalex.org/W1547319025","https://openalex.org/W1547914286","https://openalex.org/W1555175985","https://openalex.org/W1559041966","https://openalex.org/W1559742681","https://openalex.org/W1577082455","https://openalex.org/W1581958701","https://openalex.org/W1592361857","https://openalex.org/W1607931568","https://openalex.org/W1619853111","https://openalex.org/W1897589155","https://openalex.org/W1926851645","https://openalex.org/W1963556811","https://openalex.org/W1964444099","https://openalex.org/W1965210252","https://openalex.org/W1965419473","https://openalex.org/W1965456948","https://openalex.org/W1966097738","https://openalex.org/W1966762483","https://openalex.org/W1966765276","https://openalex.org/W1966938977","https://openalex.org/W1967410234","https://openalex.org/W1968608231","https://openalex.org/W1968611232","https://openalex.org/W1968811127","https://openalex.org/W1969303353","https://openalex.org/W1970293309","https://openalex.org/W1970848271","https://openalex.org/W1971321176","https://openalex.org/W1971573320","https://openalex.org/W1972357429","https://openalex.org/W1972621861","https://openalex.org/W1972906757","https://openalex.org/W1973038704","https://openalex.org/W1973878786","https://openalex.org/W1973880590","https://openalex.org/W1974928798","https://openalex.org/W1975228824","https://openalex.org/W1976555450","https://openalex.org/W1976905805","https://openalex.org/W1977032456","https://openalex.org/W1977565283","https://openalex.org/W1978763560","https://openalex.org/W1979033941","https://openalex.org/W1979250362","https://openalex.org/W1979785352","https://openalex.org/W1979803024","https://openalex.org/W1980309199","https://openalex.org/W1980883886","https://openalex.org/W1980991473","https://openalex.org/W1981734114","https://openalex.org/W1981882147","https://openalex.org/W1982377534","https://openalex.org/W1983194657","https://openalex.org/W1983340648","https://openalex.org/W1983538571","https://openalex.org/W1984357868","https://openalex.org/W1984458059","https://openalex.org/W1985556620","https://openalex.org/W1985629904","https://openalex.org/W1985876473","https://openalex.org/W1985876982","https://openalex.org/W1986142575","https://openalex.org/W1986643547","https://openalex.org/W1987388768","https://openalex.org/W1988011192","https://openalex.org/W1988011968","https://openalex.org/W1989193335","https://openalex.org/W1989844817","https://openalex.org/W1990138919","https://openalex.org/W1990497965","https://openalex.org/W1990798746","https://openalex.org/W1991721037","https://openalex.org/W1992745256","https://openalex.org/W1992856813","https://openalex.org/W1993224249","https://openalex.org/W1995329516","https://openalex.org/W1995583822","https://openalex.org/W1995978685","https://openalex.org/W1996092810","https://openalex.org/W1996619668","https://openalex.org/W1997127700","https://openalex.org/W1999358054","https://openalex.org/W1999616820","https://openalex.org/W2002012536","https://openalex.org/W2002938212","https://openalex.org/W2003297134","https://openalex.org/W2003369797","https://openalex.org/W2004091189","https://openalex.org/W2005817756","https://openalex.org/W2005992239","https://openalex.org/W2007382757","https://openalex.org/W2008135090","https://openalex.org/W2009073138","https://openalex.org/W2009486976","https://openalex.org/W2010164205","https://openalex.org/W2010344062","https://openalex.org/W2011625955","https://openalex.org/W2011910037","https://openalex.org/W2012203722","https://openalex.org/W2012932372","https://openalex.org/W2013013633","https://openalex.org/W2013153062","https://openalex.org/W2013976438","https://openalex.org/W2015053297","https://openalex.org/W2015213948","https://openalex.org/W2015238718","https://openalex.org/W2015524830","https://openalex.org/W2016466873","https://openalex.org/W2018438372","https://openalex.org/W2020374060","https://openalex.org/W2020795449","https://openalex.org/W2022217727","https://openalex.org/W2022498096","https://openalex.org/W2022609707","https://openalex.org/W2022889556","https://openalex.org/W2023375902","https://openalex.org/W2024129111","https://openalex.org/W2024298562","https://openalex.org/W2024663595","https://openalex.org/W2024846396","https://openalex.org/W2025142360","https://openalex.org/W2025551837","https://openalex.org/W2026473386","https://openalex.org/W2026740713","https://openalex.org/W2026852781","https://openalex.org/W2027499393","https://openalex.org/W2027759454","https://openalex.org/W2027999012","https://openalex.org/W2029343009","https://openalex.org/W2029382650","https://openalex.org/W2030147716","https://openalex.org/W2031209863","https://openalex.org/W2031363433","https://openalex.org/W2031827634","https://openalex.org/W2032408288","https://openalex.org/W2032523288","https://openalex.org/W2032962562","https://openalex.org/W2033146133","https://openalex.org/W2033368074","https://openalex.org/W2033447318","https://openalex.org/W2033508386","https://openalex.org/W2033759150","https://openalex.org/W2034453108","https://openalex.org/W2035412866","https://openalex.org/W2035473823","https://openalex.org/W2035573045","https://openalex.org/W2036472129","https://openalex.org/W2037947871","https://openalex.org/W2037995604","https://openalex.org/W2038057838","https://openalex.org/W2039761340","https://openalex.org/W2039912759","https://openalex.org/W2039980220","https://openalex.org/W2040026415","https://openalex.org/W2040713543","https://openalex.org/W2040726954","https://openalex.org/W2041388242","https://openalex.org/W2041476874","https://openalex.org/W2042103448","https://openalex.org/W2042314805","https://openalex.org/W2042808169","https://openalex.org/W2043653988","https://openalex.org/W2044110911","https://openalex.org/W2044544988","https://openalex.org/W2044823121","https://openalex.org/W2045172296","https://openalex.org/W2045457451","https://openalex.org/W2045866343","https://openalex.org/W2046165746","https://openalex.org/W2046260780","https://openalex.org/W2046683077","https://openalex.org/W2049859777","https://openalex.org/W2050093397","https://openalex.org/W2050161506","https://openalex.org/W2050182550","https://openalex.org/W2050258368","https://openalex.org/W2050492269","https://openalex.org/W2050495774","https://openalex.org/W2050620042","https://openalex.org/W2051861976","https://openalex.org/W2053609226","https://openalex.org/W2054185647","https://openalex.org/W2054648020","https://openalex.org/W2054711352","https://openalex.org/W2054784160","https://openalex.org/W2055157121","https://openalex.org/W2055850604","https://openalex.org/W2056605430","https://openalex.org/W2058539495","https://openalex.org/W2059013920","https://openalex.org/W2059145105","https://openalex.org/W2059450483","https://openalex.org/W2059603105","https://openalex.org/W2059812088","https://openalex.org/W2062110647","https://openalex.org/W2062616602","https://openalex.org/W2062902938","https://openalex.org/W2063081993","https://openalex.org/W2063838385","https://openalex.org/W2063991996","https://openalex.org/W2064488304","https://openalex.org/W2064562810","https://openalex.org/W2065087403","https://openalex.org/W2065497335","https://openalex.org/W2065894981","https://openalex.org/W2066114684","https://openalex.org/W2066211691","https://openalex.org/W2066827876","https://openalex.org/W2067996390","https://openalex.org/W2068258520","https://openalex.org/W2068344640","https://openalex.org/W2069099904","https://openalex.org/W2070036656","https://openalex.org/W2071529122","https://openalex.org/W2071837000","https://openalex.org/W2071938440","https://openalex.org/W2072492439","https://openalex.org/W2072966334","https://openalex.org/W2073062083","https://openalex.org/W2073501423","https://openalex.org/W2073791303","https://openalex.org/W2074029896","https://openalex.org/W2074258117","https://openalex.org/W2074579392","https://openalex.org/W2075183590","https://openalex.org/W2075825728","https://openalex.org/W2075900533","https://openalex.org/W2076450755","https://openalex.org/W2076498318","https://openalex.org/W2076824470","https://openalex.org/W2077240464","https://openalex.org/W2079957913","https://openalex.org/W2080347647","https://openalex.org/W2080537538","https://openalex.org/W2081989700","https://openalex.org/W2082036307","https://openalex.org/W2082863207","https://openalex.org/W2082920532","https://openalex.org/W2084079028","https://openalex.org/W2084494997","https://openalex.org/W2084889756","https://openalex.org/W2086799216","https://openalex.org/W2087261765","https://openalex.org/W2087276835","https://openalex.org/W2087509934","https://openalex.org/W2087941344","https://openalex.org/W2088057301","https://openalex.org/W2088322596","https://openalex.org/W2088716212","https://openalex.org/W2089062549","https://openalex.org/W2089251117","https://openalex.org/W2089335658","https://openalex.org/W2089951947","https://openalex.org/W2090717238","https://openalex.org/W2091444795","https://openalex.org/W2091467970","https://openalex.org/W2091935928","https://openalex.org/W2092630887","https://openalex.org/W2092719625","https://openalex.org/W2092748385","https://openalex.org/W2093201160","https://openalex.org/W2094398934","https://openalex.org/W2095697668","https://openalex.org/W2096079168","https://openalex.org/W2096490315","https://openalex.org/W2097711517","https://openalex.org/W2098000677","https://openalex.org/W2098616183","https://openalex.org/W2098798436","https://openalex.org/W2099339523","https://openalex.org/W2099388920","https://openalex.org/W2099448375","https://openalex.org/W2099756187","https://openalex.org/W2099899772","https://openalex.org/W2100254283","https://openalex.org/W2102467876","https://openalex.org/W2102469725","https://openalex.org/W2103931879","https://openalex.org/W2104143069","https://openalex.org/W2105011854","https://openalex.org/W2105172870","https://openalex.org/W2105245235","https://openalex.org/W2105930365","https://openalex.org/W2106141196","https://openalex.org/W2106650442","https://openalex.org/W2106863904","https://openalex.org/W2106951973","https://openalex.org/W2108329409","https://openalex.org/W2109332877","https://openalex.org/W2109529720","https://openalex.org/W2112163143","https://openalex.org/W2112471545","https://openalex.org/W2114034064","https://openalex.org/W2114107709","https://openalex.org/W2114790713","https://openalex.org/W2116058450","https://openalex.org/W2116753165","https://openalex.org/W2116964354","https://openalex.org/W2117446594","https://openalex.org/W2117840789","https://openalex.org/W2118321207","https://openalex.org/W2118415569","https://openalex.org/W2119017402","https://openalex.org/W2119907069","https://openalex.org/W2120195741","https://openalex.org/W2121122075","https://openalex.org/W2121321075","https://openalex.org/W2123194540","https://openalex.org/W2123739801","https://openalex.org/W2124390364","https://openalex.org/W2124851664","https://openalex.org/W2124873881","https://openalex.org/W2125147395","https://openalex.org/W2125432692","https://openalex.org/W2125486839","https://openalex.org/W2125592770","https://openalex.org/W2126538155","https://openalex.org/W2126819661","https://openalex.org/W2126924463","https://openalex.org/W2127456447","https://openalex.org/W2127634492","https://openalex.org/W2127753140","https://openalex.org/W2128161895","https://openalex.org/W2128851587","https://openalex.org/W2129179498","https://openalex.org/W2129915397","https://openalex.org/W2130239919","https://openalex.org/W2130376452","https://openalex.org/W2130407782","https://openalex.org/W2131104106","https://openalex.org/W2132262459","https://openalex.org/W2134645798","https://openalex.org/W2136046978","https://openalex.org/W2136060822","https://openalex.org/W2136541538","https://openalex.org/W2137658572","https://openalex.org/W2137920707","https://openalex.org/W2138017136","https://openalex.org/W2138372369","https://openalex.org/W2138426663","https://openalex.org/W2138595025","https://openalex.org/W2139411439","https://openalex.org/W2139852368","https://openalex.org/W2140383855","https://openalex.org/W2141020774","https://openalex.org/W2141704631","https://openalex.org/W2142452151","https://openalex.org/W2143238378","https://openalex.org/W2143333975","https://openalex.org/W2143474508","https://openalex.org/W2144446993","https://openalex.org/W2146437136","https://openalex.org/W2146538063","https://openalex.org/W2146760872","https://openalex.org/W2147401637","https://openalex.org/W2148243421","https://openalex.org/W2148468839","https://openalex.org/W2149387942","https://openalex.org/W2149681218","https://openalex.org/W2149910284","https://openalex.org/W2150786121","https://openalex.org/W2150873111","https://openalex.org/W2151382043","https://openalex.org/W2151566815","https://openalex.org/W2151812566","https://openalex.org/W2151915336","https://openalex.org/W2152079029","https://openalex.org/W2152157708","https://openalex.org/W2152704739","https://openalex.org/W2153065499","https://openalex.org/W2153253565","https://openalex.org/W2153809614","https://openalex.org/W2154259233","https://openalex.org/W2154511345","https://openalex.org/W2154714625","https://openalex.org/W2154720363","https://openalex.org/W2154766895","https://openalex.org/W2155707112","https://openalex.org/W2155895966","https://openalex.org/W2156480888","https://openalex.org/W2156922030","https://openalex.org/W2157209018","https://openalex.org/W2157304951","https://openalex.org/W2157600908","https://openalex.org/W2158063953","https://openalex.org/W2158631587","https://openalex.org/W2158778721","https://openalex.org/W2158959870","https://openalex.org/W2159835100","https://openalex.org/W2160330233","https://openalex.org/W2160902965","https://openalex.org/W2161439549","https://openalex.org/W2161678210","https://openalex.org/W2161760332","https://openalex.org/W2162085794","https://openalex.org/W2163272098","https://openalex.org/W2164825442","https://openalex.org/W2165518981","https://openalex.org/W2165904471","https://openalex.org/W2166842453","https://openalex.org/W2167350922","https://openalex.org/W2167366063","https://openalex.org/W2167684047","https://openalex.org/W2168257805","https://openalex.org/W2168893192","https://openalex.org/W2168897723","https://openalex.org/W2169544120","https://openalex.org/W2171629893","https://openalex.org/W2171777347","https://openalex.org/W2171804213","https://openalex.org/W2179051936","https://openalex.org/W2187435261","https://openalex.org/W2297808440","https://openalex.org/W2338848450","https://openalex.org/W2400037161","https://openalex.org/W2470943588","https://openalex.org/W4210953366","https://openalex.org/W4236172333","https://openalex.org/W4245692159","https://openalex.org/W4245696248","https://openalex.org/W4247665917","https://openalex.org/W4253349826","https://openalex.org/W4293200984"],"related_works":["https://openalex.org/W4394699985","https://openalex.org/W655858292","https://openalex.org/W773244884","https://openalex.org/W4392523251","https://openalex.org/W631520079","https://openalex.org/W1967519718","https://openalex.org/W4402849248","https://openalex.org/W2921878500","https://openalex.org/W1996619668","https://openalex.org/W4396527436"],"abstract_inverted_index":{"Les":[0,31,241,264],"troubles":[1],"du":[2,109,117,547],"spectre":[3],"autistique":[4],"(TSA)":[5],"affectent":[6],"un":[7,77,98,246,342,512,532],"individu":[8,248],"sur":[9,167,312,327,393],"100":[10],"et":[11,20,24,29,48,63,103,126,175,198,200,221,228,266,336,358,403,443,447,539,552],"sont":[12,91,254,270],"caract\u00e9ris\u00e9s":[13],"par":[14,25,97,107,179,209,332],"des":[15,21,26,50,74,87,114,129,140,168,194,216,236,285,288,296,304,315,320,339,347,355,362,367,373,395,484,500,508],"d\u00e9ficits":[16],"de":[17,79,84,158,170,173,219,225,272,290,300,330,344,365,376,381,388,390,407,431,433,459,472,480,491,495,514,523,526,534,553,564],"la":[18,57,85,94,121,127,132,275,313,334,337,351,420,524],"communication":[19],"interactions":[22],"sociales,":[23],"comportements":[27],"restreints":[28],"r\u00e9p\u00e9titifs.":[30],"TSA":[32,73,293],"pr\u00e9sentent":[33,361],"une":[34,161,164,176,202,251,561],"forte":[35],"composante":[36],"g\u00e9n\u00e9tique":[37],";":[38],"les":[39,60,72,146,190,207,258,262,267,283,398,426,441,461,488,506],"premiers":[40,428],"g\u00e8nes":[41,191],"impliqu\u00e9s":[42],"ont":[43,137],"\u00e9t\u00e9":[44],"identifi\u00e9s":[45],"au":[46,558],"laboratoire":[47],"codent":[49],"prot\u00e9ines":[51,90,356,368],"d\u2019adh\u00e9rence":[52,82],"ou":[53,131,249,371,464],"d\u2019\u00e9chafaudage":[54],"localis\u00e9es":[55],"\u00e0":[56,69,93,143,204,318,385,412,536,542],"synapse":[58],":":[59],"neuroligines":[61],"(NLGN)":[62],"SHANK.":[64],"Nous":[65,182,323,449],"nous":[66,231,308,435],"sommes":[67],"int\u00e9ress\u00e9s":[68],"l\u2019implication":[70,139],"dans":[71,113,145,189,250,341,467,511],"contactines":[75,141,286,485],"(CNTN),":[76],"groupe":[78],"six":[80],"mol\u00e9cules":[81],"neurales":[83],"superfamille":[86],"immunoglobulines.":[88],"Ces":[89],"ancr\u00e9es":[92],"membrane":[95],"plasmique":[96],"groupement":[99],"glycosyl":[100],"phosphatidylinositol":[101],"(GPI)":[102],"peuvent":[104],"\u00eatre":[105],"s\u00e9cr\u00e9t\u00e9es":[106],"clivage":[108],"GPI.":[110],"Elles":[111],"interviennent":[112],"processus":[115],"vari\u00e9s":[116],"d\u00e9veloppement":[118,546],"neuronal":[119],"comme":[120],"croissance":[122],"neuritique,":[123],"le":[124,410,545],"guidage":[125],"fasciculation":[128],"axones":[130],"my\u00e9linisation.":[133],"Des":[134],"\u00e9tudes":[135],"g\u00e9n\u00e9tiques":[136,567],"sugg\u00e9r\u00e9":[138],"4":[142],"6":[144,444],"TSA,":[147],"mais":[148],"aucune":[149],"\u00e9tude":[150,383],"fonctionnelle":[151,166],"n\u2019a":[152],"confirm\u00e9":[153],"cette":[154,382,438,468],"hypoth\u00e8se.":[155],"Ce":[156],"travail":[157],"th\u00e8se":[159],"associe":[160],"analyse":[162,165,177],"g\u00e9n\u00e9tique,":[163],"cultures":[169],"neurones":[171,331],"primaires":[172],"rat":[174],"structurale":[178],"mod\u00e9lisation":[180],"mol\u00e9culaire.":[181],"avons":[183,309,324,436,450],"identifi\u00e9":[184],"plusieurs":[185,328,481,527],"\"Copy-Number":[186],"Variants\"":[187],"(CNV)":[188],"CNTN":[192,316,321,509],"(essentiellement":[193],"d\u00e9l\u00e9tions":[195],"affectant":[196],"CNTN5":[197,220,357,442],"CNTN6)":[199],"observ\u00e9":[201],"tendance":[203],"l\u2019enrichissement":[205],"chez":[206,223,245,257,261,487,499],"patients":[208,227,259,489],"rapport":[210],"aux":[211,292],"individus":[212],"t\u00e9moins.":[213,263],"Le":[214,378,549],"s\u00e9quen\u00e7age":[215,550],"exons":[217],"codants":[218],"CNTN6":[222,359],"plus":[224,255],"200":[226,229],"t\u00e9moins":[230],"a":[232],"ensuite":[233],"permis":[234],"d\u2019identifier":[235],"variants":[237,242,268,305,392,456,482,497],"ponctuels":[238,269,306],"non":[239,277,502],"synonymes.":[240],"priv\u00e9s":[243],"(pr\u00e9sents":[244],"seul":[247],"seule":[252],"famille)":[253],"fr\u00e9quents":[256],"que":[260,282,295,454,505,519],"CNV":[265],"h\u00e9rit\u00e9s,":[271],"parents":[273],"pour":[274,425,440],"plupart":[276,354],"atteints,":[278],"ce":[279],"qui":[280,517],"sugg\u00e8re":[281],"alt\u00e9rations":[284,507],"constituent":[287],"facteurs":[289,297],"vuln\u00e9rabilit\u00e9":[291],"plut\u00f4t":[294],"causaux.":[298],"Afin":[299],"d\u00e9terminer":[301],"l\u2019effet":[302,311],"fonctionnel":[303],"rares,":[307],"compar\u00e9":[310],"neuritogen\u00e8se":[314],"mut\u00e9es":[317,360],"celui":[319],"sauvages.":[322],"ainsi":[325,451],"analys\u00e9,":[326],"centaines":[329],"condition,":[333],"longueur":[335],"ramification":[338],"neurites":[340],"syst\u00e8me":[343],"co-culture":[345],"avec":[346,405,419],"cellules":[348],"HEK":[349],"surexprimant":[350],"CNTN.":[352],"La":[353,493],"effets":[363,374],"diff\u00e9rents":[364],"ceux":[366],"sauvages":[369,446],"(inhibition":[370],"augmentation":[372],"positifs":[375],"celles-ci).":[377],"dernier":[379],"objectif":[380],"consistait":[384],"\u00e9valuer":[386],"l\u2019influence":[387],"certains":[389,455],"ces":[391,496,565],"l\u2019interaction":[394],"CNTN,":[396],"via":[397],"domaines":[399,429],"immunoglobuline":[400],"(Ig)":[401],"2":[402],"3,":[404],"l\u2019un":[406],"leurs":[408],"ligands,":[409],"r\u00e9cepteur":[411],"activit\u00e9":[413],"tyrosine":[414],"phosphatase":[415],"PTPRG.":[416],"Par":[417],"homologie":[418],"structure":[421],"cristallographique":[422],"d\u00e9j\u00e0":[423],"r\u00e9solue":[424],"quatre":[427],"Ig":[430],"CNTN4":[432],"souris,":[434],"mod\u00e9lis\u00e9":[437],"r\u00e9gion":[439,469],"humaines,":[445],"mut\u00e9es.":[448],"pu":[452],"pr\u00e9dire":[453],"\u00e9taient":[457],"susceptibles":[458],"modifier":[460],"liaisons":[462],"ioniques":[463],"l\u2019encombrement":[465],"st\u00e9rique":[466],"d\u2019interaction.":[470],"L\u2019ensemble":[471],"nos":[473],"r\u00e9sultats":[474],"d\u00e9montre":[475],"l\u2019existence":[476],"d\u2019effets":[477],"fonctionnels":[478],"d\u00e9l\u00e9t\u00e8res":[479],"rares":[483,498],"retrouv\u00e9s":[486],"atteints":[490,503],"TSA.":[492],"pr\u00e9sence":[494],"apparent\u00e9s":[501],"indique":[504],"s\u2019inscrivent":[510],"mod\u00e8le":[513],"\"multiple":[515],"hit\",":[516],"propose":[518],"l\u2019autisme":[520],"puisse":[521],"r\u00e9sulter":[522],"combinaison":[525],"atteintes":[528,566],"g\u00e9n\u00e9tiques,":[529],"chacune":[530],"repr\u00e9sentant":[531],"facteur":[533],"risque":[535],"effet":[537],"mod\u00e9r\u00e9":[538],"n\u2019entra\u00eenant":[540],"pas,":[541],"elle":[543],"seule,":[544],"trouble.":[548],"d\u2019exomes":[551],"g\u00e9nomes":[554],"entiers,":[555],"en":[556],"cours":[557],"laboratoire,":[559],"permettra":[560],"meilleure":[562],"compr\u00e9hension":[563],"multiples.":[568]},"counts_by_year":[],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}