{"id":"https://openalex.org/W2153178246","doi":null,"title":"Fragile X Syndrome: Steps towards Therapy","display_name":"Fragile X Syndrome: Steps towards Therapy","publication_year":2013,"publication_date":"2013-04-10","ids":{"openalex":"https://openalex.org/W2153178246","mag":"2153178246"},"language":"en","primary_location":{"id":"pmh:eur:oai:repub.eur.nl:39539","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/1765/39539","pdf_url":"http://hdl.handle.net/1765/39539","source":{"id":"https://openalex.org/S4377196287","display_name":"RePub (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"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":"","raw_type":"info:eu-repo/semantics/doctoralthesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://hdl.handle.net/1765/39539","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Andreea Pop","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Andreea Pop","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"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":1.0,"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":1.0,"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.0,"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/T10106","display_name":"Autism Spectrum Disorder Research","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/fragile-x-syndrome","display_name":"fragile X syndrome","score":0.949999988079071},{"id":"https://openalex.org/keywords/fmr1","display_name":"FMR1 gene","score":0.8379999995231628},{"id":"https://openalex.org/keywords/fmrp","display_name":"FMRP","score":0.8740000128746033},{"id":"https://openalex.org/keywords/cgg-repeat-expansion","display_name":"CGG repeat expansion","score":0.8899999856948853},{"id":"https://openalex.org/keywords/hypermethylation","display_name":"hypermethylation","score":0.6819999814033508},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.8130000233650208},{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":0.996999979019165},{"id":"https://openalex.org/keywords/fmr1-gene-silencing","display_name":"FMR1 gene silencing","score":0.5019999742507935}],"concepts":[{"id":"https://openalex.org/C2777630245","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile X syndrome","level":2,"score":0.9785671234130859},{"id":"https://openalex.org/C551499885","wikidata":"https://www.wikidata.org/wiki/Q183560","display_name":"Intellectual disability","level":2,"score":0.8558040857315063},{"id":"https://openalex.org/C2779063550","wikidata":"https://www.wikidata.org/wiki/Q905435","display_name":"FMR1","level":4,"score":0.7766456007957458},{"id":"https://openalex.org/C205778803","wikidata":"https://www.wikidata.org/wiki/Q38404","display_name":"Autism","level":2,"score":0.7250418066978455},{"id":"https://openalex.org/C166047926","wikidata":"https://www.wikidata.org/wiki/Q170277","display_name":"Intelligence quotient","level":3,"score":0.5023441314697266},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.49079403281211853},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4873131215572357},{"id":"https://openalex.org/C2778538070","wikidata":"https://www.wikidata.org/wiki/Q1436063","display_name":"Autism spectrum disorder","level":3,"score":0.47849148511886597},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.4468935430049896},{"id":"https://openalex.org/C103879163","wikidata":"https://www.wikidata.org/wiki/Q378697","display_name":"Mental age","level":3,"score":0.4209687113761902},{"id":"https://openalex.org/C3020422209","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile x","level":3,"score":0.41697585582733154},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3912178874015808},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3854706883430481},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17379745841026306},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.11431935429573059},{"id":"https://openalex.org/C169900460","wikidata":"https://www.wikidata.org/wiki/Q2200417","display_name":"Cognition","level":2,"score":0.07263430953025818},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:eur:oai:repub.eur.nl:39539","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/1765/39539","pdf_url":"http://hdl.handle.net/1765/39539","source":{"id":"https://openalex.org/S4377196287","display_name":"RePub (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"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":"","raw_type":"info:eu-repo/semantics/doctoralthesis"},{"id":"pmh:oai:repub.eur.nl:39539","doi":null,"is_oa":true,"landing_page_url":"http://repub.eur.nl/pub/39539","pdf_url":"http://repub.eur.nl/pub/39539","source":{"id":"https://openalex.org/S4377196287","display_name":"RePub (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"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":"","raw_type":"info:eu-repo/semantics/doctoralThesis"},{"id":"mag:2153178246","doi":null,"is_oa":false,"landing_page_url":"https://repub.eur.nl/pub/39539/130410_Pop,%20Andreea%20Simona%20-%20Bewerkt.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:eur:oai:repub.eur.nl:39539","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/1765/39539","pdf_url":"http://hdl.handle.net/1765/39539","source":{"id":"https://openalex.org/S4377196287","display_name":"RePub (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"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":"","raw_type":"info:eu-repo/semantics/doctoralthesis"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9476000070571899}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1024908669","display_name":null,"funder_award_id":"91207022","funder_id":"https://openalex.org/F4320321007","funder_display_name":"ZonMw"}],"funders":[{"id":"https://openalex.org/F4320306123","display_name":"FRAXA Research Foundation","ror":"https://ror.org/050apvm78"},{"id":"https://openalex.org/F4320317617","display_name":"E-Rare","ror":null},{"id":"https://openalex.org/F4320321007","display_name":"ZonMw","ror":"https://ror.org/01yaj9a77"},{"id":"https://openalex.org/F4320321730","display_name":"Fonds Wetenschappelijk Onderzoek","ror":"https://ror.org/03qtxy027"},{"id":"https://openalex.org/F4320327336","display_name":"Vlaamse regering","ror":null}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2153178246.pdf","grobid_xml":"https://content.openalex.org/works/W2153178246.grobid-xml"},"referenced_works_count":141,"referenced_works":["https://openalex.org/W276811766","https://openalex.org/W1481250329","https://openalex.org/W1573292604","https://openalex.org/W1642338065","https://openalex.org/W1822833733","https://openalex.org/W1834174605","https://openalex.org/W1969498835","https://openalex.org/W1971718275","https://openalex.org/W1972740284","https://openalex.org/W1975714469","https://openalex.org/W1976101979","https://openalex.org/W1977200147","https://openalex.org/W1977283045","https://openalex.org/W1985513367","https://openalex.org/W1989793705","https://openalex.org/W1991587102","https://openalex.org/W1991721037","https://openalex.org/W1991974921","https://openalex.org/W1995058974","https://openalex.org/W1996493542","https://openalex.org/W1997037252","https://openalex.org/W1997557106","https://openalex.org/W1998232402","https://openalex.org/W2000309815","https://openalex.org/W2001996712","https://openalex.org/W2002364516","https://openalex.org/W2002465714","https://openalex.org/W2002780348","https://openalex.org/W2002903762","https://openalex.org/W2004342279","https://openalex.org/W2005688785","https://openalex.org/W2005772009","https://openalex.org/W2006526119","https://openalex.org/W2009692159","https://openalex.org/W2012010559","https://openalex.org/W2012460847","https://openalex.org/W2013319209","https://openalex.org/W2014080807","https://openalex.org/W2014102314","https://openalex.org/W2016411894","https://openalex.org/W2020423506","https://openalex.org/W2021455904","https://openalex.org/W2022296795","https://openalex.org/W2022959185","https://openalex.org/W2024955503","https://openalex.org/W2026831615","https://openalex.org/W2029815010","https://openalex.org/W2031379218","https://openalex.org/W2031514564","https://openalex.org/W2031785254","https://openalex.org/W2032131334","https://openalex.org/W2035506481","https://openalex.org/W2038361969","https://openalex.org/W2038390533","https://openalex.org/W2040563577","https://openalex.org/W2042310987","https://openalex.org/W2042993576","https://openalex.org/W2043473753","https://openalex.org/W2045611288","https://openalex.org/W2045733845","https://openalex.org/W2048743454","https://openalex.org/W2051013729","https://openalex.org/W2051541374","https://openalex.org/W2054086319","https://openalex.org/W2059148325","https://openalex.org/W2060146392","https://openalex.org/W2060412896","https://openalex.org/W2060798280","https://openalex.org/W2063704147","https://openalex.org/W2063798177","https://openalex.org/W2063945964","https://openalex.org/W2066337453","https://openalex.org/W2068943457","https://openalex.org/W2071075776","https://openalex.org/W2071287384","https://openalex.org/W2071482305","https://openalex.org/W2071797996","https://openalex.org/W2073597522","https://openalex.org/W2074791552","https://openalex.org/W2074876991","https://openalex.org/W2075344525","https://openalex.org/W2076599994","https://openalex.org/W2079302576","https://openalex.org/W2079496451","https://openalex.org/W2079862834","https://openalex.org/W2082109123","https://openalex.org/W2084889756","https://openalex.org/W2087078319","https://openalex.org/W2089667232","https://openalex.org/W2089756166","https://openalex.org/W2093335984","https://openalex.org/W2094993063","https://openalex.org/W2096270532","https://openalex.org/W2098756736","https://openalex.org/W2099899772","https://openalex.org/W2101014059","https://openalex.org/W2101716121","https://openalex.org/W2102146294","https://openalex.org/W2103709346","https://openalex.org/W2104921672","https://openalex.org/W2106750209","https://openalex.org/W2106836999","https://openalex.org/W2109002457","https://openalex.org/W2109091674","https://openalex.org/W2109383336","https://openalex.org/W2109792092","https://openalex.org/W2110811750","https://openalex.org/W2110871941","https://openalex.org/W2116276594","https://openalex.org/W2117329255","https://openalex.org/W2117874342","https://openalex.org/W2117928188","https://openalex.org/W2122400358","https://openalex.org/W2124161234","https://openalex.org/W2125608178","https://openalex.org/W2129032286","https://openalex.org/W2129108032","https://openalex.org/W2129650859","https://openalex.org/W2132943956","https://openalex.org/W2134063049","https://openalex.org/W2134620558","https://openalex.org/W2134986933","https://openalex.org/W2141416681","https://openalex.org/W2145658515","https://openalex.org/W2146768442","https://openalex.org/W2148386452","https://openalex.org/W2149919973","https://openalex.org/W2153053291","https://openalex.org/W2153806589","https://openalex.org/W2157245091","https://openalex.org/W2157348568","https://openalex.org/W2157742595","https://openalex.org/W2158507319","https://openalex.org/W2164912917","https://openalex.org/W2168221097","https://openalex.org/W2168319429","https://openalex.org/W2168960186","https://openalex.org/W2169492321","https://openalex.org/W2171612971","https://openalex.org/W2255119171","https://openalex.org/W2887318482"],"related_works":["https://openalex.org/W1501762880","https://openalex.org/W7218861818","https://openalex.org/W2620601583","https://openalex.org/W4254548408","https://openalex.org/W2142139934","https://openalex.org/W2070182815","https://openalex.org/W4256459006","https://openalex.org/W3145383230","https://openalex.org/W2904462589","https://openalex.org/W4378472703"],"abstract_inverted_index":{"In":[0],"a":[1,19,58,139,148,197],"continuously":[2],"developing":[3],"society":[4],"we":[5],"are":[6,47,77],"still":[7],"confronted":[8],"with":[9,17,50,55,101,114],"intellectual":[10,42,65,132],"disability":[11,66,133],"\\n(ID)":[12],"and":[13,75,107,155,210],"autism":[14,29,56],"around":[15],"us":[16],"quite":[18],"high":[20],"prevalence.":[21],"1":[22,179],"in":[23,63,134,141,164,167,218],"88":[24],"children":[25],"is":[26,39,196],"diagnosed":[27,113],"\\nwith":[28],"spectrum":[30],"disorder":[31],"(ASD),":[32],"while":[33],"2-3%":[34],"of":[35,53,72,104,109,138,194,213,221],"the":[36,64,84,96,124,152,156,169,174,214,219,225],"general":[37],"population":[38],"affected":[40],"\\nby":[41],"disability.":[43],"These":[44],"two":[45,125],"conditions":[46],"often":[48],"comorbid,":[49],"\\napproximately":[51],"75%":[52],"people":[54],"having":[57],"non-verbal":[59],"Intelligence":[60],"Quotient":[61],"\\n(IQ)":[62],"range":[67],"(below":[68],"70).":[69],"The":[70,191],"causes":[71],"both":[73,90],"ID":[74],"ASD":[76],"\\nnumerous,":[78],"either":[79],"genetic":[80],"or":[81],"environmental,":[82],"but":[83],"leading":[85],"inherited":[86],"single-gene":[87],"cause":[88,193],"\\nof":[89],"afflictions":[91],"if":[92],"known":[93],"to":[94,147,208],"be":[95],"Fragile":[97],"X":[98,153,162,176,227],"Syndrome":[99],"(FXS),":[100],"approximately":[102],"\\n10%":[103],"intellectually":[105],"disabled":[106],"2-6%":[108],"autistic":[110],"individuals":[111],"being":[112],"\\nFXS.":[115],"This":[116],"syndrome":[117],"was":[118,145,158,182],"initially":[119],"named":[120],"Martin-Bell":[121],"syndrome,":[122],"after":[123],"doctors":[126],"\\nwho":[127],"first":[128],"described":[129],"an":[130],"X-linked":[131],"multiple":[135],"male":[136],"members":[137],"\\nfamily":[140],"1943.":[142],"Later":[143],"it":[144],"linked":[146],"\u201cfragile":[149,161],"site\u201d":[150],"on":[151,188],"chromosome,":[154],"\\nname":[157],"changed":[159],"into":[160],"syndrome\u201d":[163],"1970.":[165],"Only":[166],"1991":[168],"gene":[170,180],"\\nresponsible":[171],"for":[172],"FXS,":[173],"fragile":[175,226],"mental":[177,228],"retardation":[178,229],"(FMR1),":[181],"discovered,":[183],"\\nand":[184],"from":[185],"that":[186],"moment":[187],"research":[189],"flourished.":[190],"apparent":[192],"FXS":[195],"CGG":[198,204],"\\ntrinucleotide":[199],"repeat":[200],"longer":[201],"than":[202],"200":[203],"units,":[205],"which":[206],"leads":[207],"hypermethylation":[209],"\\nconsequently":[211],"silencing":[212],"FMR1":[215],"gene,":[216],"resulting":[217],"absence":[220],"FMR1\u2019s":[222],"protein":[223,230],"\\nproduct,":[224],"(FMRP).":[231]},"counts_by_year":[],"updated_date":"2026-09-29T14:09:16.559479","created_date":"2016-06-24T00:00:00"}