{"id":"https://openalex.org/W7147065784","doi":"https://doi.org/10.70675/27b540eaz8392z44b7zbfb0zbc47b0821d32","title":"D\u00e9veloppement d\u2019approches th\u00e9rapeutiques pour le traitement des dysferlinopathies.","display_name":"D\u00e9veloppement d\u2019approches th\u00e9rapeutiques pour le traitement des dysferlinopathies.","publication_year":2014,"publication_date":"2014-12-15","ids":{"openalex":"https://openalex.org/W7147065784","doi":"https://doi.org/10.70675/27b540eaz8392z44b7zbfb0zbc47b0821d32","mag":"2337464342"},"language":"fr","primary_location":{"id":"doi:10.70675/27b540eaz8392z44b7zbfb0zbc47b0821d32","doi":"https://doi.org/10.70675/27b540eaz8392z44b7zbfb0zbc47b0821d32","is_oa":false,"landing_page_url":"https://doi.org/10.70675/27b540eaz8392z44b7zbfb0zbc47b0821d32","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":"Evry-Val d'Essonne","raw_type":"dissertation"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5027923510","display_name":"Marina Pryadkina","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Marina Pryadkina","raw_affiliation_strings":["Evry-Val d'Essonne"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Evry-Val d'Essonne","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5027923510"],"corresponding_institution_ids":[],"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/T10613","display_name":"Virus-based gene therapy research","score":0.8945000171661377,"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/T10613","display_name":"Virus-based gene therapy research","score":0.8945000171661377,"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/T10441","display_name":"Muscle Physiology and Disorders","score":0.06679999828338623,"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"}},{"id":"https://openalex.org/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":0.02199999988079071,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/dysferlinopathy","display_name":"dysferlinopathy","score":0.9800000190734863},{"id":"https://openalex.org/keywords/dysferlin","display_name":"dysferlin","score":0.9240000247955322},{"id":"https://openalex.org/keywords/dysf-gene","display_name":"DYSF gene","score":0.9750000238418579},{"id":"https://openalex.org/keywords/muscular-dystrophy","display_name":"muscular dystrophy","score":0.5830000042915344},{"id":"https://openalex.org/keywords/recombinant-adeno-associated-virus-vectors","display_name":"recombinant adeno-associated virus vectors","score":0.8159999847412109},{"id":"https://openalex.org/keywords/gene-therapy","display_name":"gene therapy","score":0.5490000247955322},{"id":"https://openalex.org/keywords/minigene","display_name":"minigene","score":0.6940000057220459},{"id":"https://openalex.org/keywords/optineurin","display_name":"optineurin","score":0.5920000076293945}],"concepts":[{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.49079999327659607},{"id":"https://openalex.org/C2909669934","wikidata":"https://www.wikidata.org/wiki/Q12195","display_name":"Acute anterior poliomyelitis","level":4,"score":0.32019999623298645},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.23440000414848328},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.20720000565052032},{"id":"https://openalex.org/C15708023","wikidata":"https://www.wikidata.org/wiki/Q80083","display_name":"Humanities","level":1,"score":0.1889999955892563},{"id":"https://openalex.org/C2778117688","wikidata":"https://www.wikidata.org/wiki/Q264024","display_name":"Animal model","level":2,"score":0.17419999837875366},{"id":"https://openalex.org/C52909226","wikidata":"https://www.wikidata.org/wiki/Q5462835","display_name":"Fluorescent labelling","level":3,"score":0.16680000722408295},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.15549999475479126},{"id":"https://openalex.org/C2992644362","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Muscle disease","level":3,"score":0.14319999516010284},{"id":"https://openalex.org/C3020328616","wikidata":"https://www.wikidata.org/wiki/Q7933598","display_name":"Virus isolation","level":3,"score":0.13650000095367432}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.70675/27b540eaz8392z44b7zbfb0zbc47b0821d32","doi":"https://doi.org/10.70675/27b540eaz8392z44b7zbfb0zbc47b0821d32","is_oa":false,"landing_page_url":"https://doi.org/10.70675/27b540eaz8392z44b7zbfb0zbc47b0821d32","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":"Evry-Val d'Essonne","raw_type":"dissertation"},{"id":"pmh:2014EVRY0039","doi":null,"is_oa":false,"landing_page_url":"http://www.theses.fr/2014EVRY0039","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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Electronic Thesis or Dissertation"},{"id":"mag:2337464342","doi":null,"is_oa":false,"landing_page_url":"http://www.theses.fr/2014EVRY0039","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":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":229,"referenced_works":["https://openalex.org/W153720984","https://openalex.org/W1525361322","https://openalex.org/W1527888432","https://openalex.org/W1541189153","https://openalex.org/W1551910894","https://openalex.org/W1563834930","https://openalex.org/W1582366477","https://openalex.org/W1592698849","https://openalex.org/W1645009826","https://openalex.org/W1756236371","https://openalex.org/W1781484722","https://openalex.org/W1809106246","https://openalex.org/W1868673470","https://openalex.org/W1964162087","https://openalex.org/W1964178552","https://openalex.org/W1964241088","https://openalex.org/W1968015356","https://openalex.org/W1968382713","https://openalex.org/W1969099911","https://openalex.org/W1969271807","https://openalex.org/W1969344973","https://openalex.org/W1969526237","https://openalex.org/W1970138286","https://openalex.org/W1973095007","https://openalex.org/W1973287917","https://openalex.org/W1974840861","https://openalex.org/W1975269808","https://openalex.org/W1975510716","https://openalex.org/W1977260682","https://openalex.org/W1979659851","https://openalex.org/W1979743978","https://openalex.org/W1979802462","https://openalex.org/W1981985183","https://openalex.org/W1982839027","https://openalex.org/W1983100842","https://openalex.org/W1983351039","https://openalex.org/W1984643176","https://openalex.org/W1985285497","https://openalex.org/W1985882051","https://openalex.org/W1987723428","https://openalex.org/W1987789808","https://openalex.org/W1988453897","https://openalex.org/W1989140603","https://openalex.org/W1989288276","https://openalex.org/W1990972025","https://openalex.org/W1991180491","https://openalex.org/W1991817429","https://openalex.org/W1991907896","https://openalex.org/W1992001276","https://openalex.org/W1992083670","https://openalex.org/W1992961518","https://openalex.org/W1994430701","https://openalex.org/W1995057697","https://openalex.org/W1997123094","https://openalex.org/W1997433180","https://openalex.org/W1998139299","https://openalex.org/W1998588892","https://openalex.org/W1999379258","https://openalex.org/W2001999470","https://openalex.org/W2002153634","https://openalex.org/W2003054277","https://openalex.org/W2004552697","https://openalex.org/W2005593816","https://openalex.org/W2005602370","https://openalex.org/W2005703297","https://openalex.org/W2006322056","https://openalex.org/W2006649304","https://openalex.org/W2007187811","https://openalex.org/W2008289270","https://openalex.org/W2009318006","https://openalex.org/W2009415155","https://openalex.org/W2010440533","https://openalex.org/W2010666698","https://openalex.org/W2010757394","https://openalex.org/W2011494892","https://openalex.org/W2011986393","https://openalex.org/W2012046013","https://openalex.org/W2013555514","https://openalex.org/W2013898345","https://openalex.org/W2014344864","https://openalex.org/W2014509234","https://openalex.org/W2015099660","https://openalex.org/W2016438201","https://openalex.org/W2017153451","https://openalex.org/W2018678459","https://openalex.org/W2020164044","https://openalex.org/W2021132479","https://openalex.org/W2021157616","https://openalex.org/W2021302614","https://openalex.org/W2023048665","https://openalex.org/W2024906556","https://openalex.org/W2025784647","https://openalex.org/W2025823912","https://openalex.org/W2027513958","https://openalex.org/W2028473523","https://openalex.org/W2029566297","https://openalex.org/W2030567637","https://openalex.org/W2031223556","https://openalex.org/W2031487671","https://openalex.org/W2032097547","https://openalex.org/W2032373764","https://openalex.org/W2036657040","https://openalex.org/W2036905821","https://openalex.org/W2039381665","https://openalex.org/W2039847498","https://openalex.org/W2041578265","https://openalex.org/W2042805311","https://openalex.org/W2043172254","https://openalex.org/W2043222731","https://openalex.org/W2045584862","https://openalex.org/W2047136624","https://openalex.org/W2048196501","https://openalex.org/W2048808011","https://openalex.org/W2049442129","https://openalex.org/W2050001367","https://openalex.org/W2051025707","https://openalex.org/W2052613122","https://openalex.org/W2053849856","https://openalex.org/W2055531511","https://openalex.org/W2055883124","https://openalex.org/W2057118586","https://openalex.org/W2059831889","https://openalex.org/W2061344523","https://openalex.org/W2062628051","https://openalex.org/W2063318299","https://openalex.org/W2063808790","https://openalex.org/W2065098729","https://openalex.org/W2065321992","https://openalex.org/W2065940519","https://openalex.org/W2066684288","https://openalex.org/W2069292162","https://openalex.org/W2070334431","https://openalex.org/W2071162640","https://openalex.org/W2074784562","https://openalex.org/W2075794747","https://openalex.org/W2076930915","https://openalex.org/W2077224588","https://openalex.org/W2079813425","https://openalex.org/W2079870275","https://openalex.org/W2082328650","https://openalex.org/W2083027414","https://openalex.org/W2084129972","https://openalex.org/W2084663074","https://openalex.org/W2084711412","https://openalex.org/W2085639974","https://openalex.org/W2085811948","https://openalex.org/W2086163974","https://openalex.org/W2087185853","https://openalex.org/W2087396336","https://openalex.org/W2089108946","https://openalex.org/W2090289970","https://openalex.org/W2090766266","https://openalex.org/W2091151586","https://openalex.org/W2091317241","https://openalex.org/W2093925869","https://openalex.org/W2094444595","https://openalex.org/W2094535029","https://openalex.org/W2096505898","https://openalex.org/W2097880588","https://openalex.org/W2099194855","https://openalex.org/W2100028579","https://openalex.org/W2100405455","https://openalex.org/W2102958109","https://openalex.org/W2103283930","https://openalex.org/W2104737125","https://openalex.org/W2105788894","https://openalex.org/W2106378095","https://openalex.org/W2106862730","https://openalex.org/W2108792873","https://openalex.org/W2110217122","https://openalex.org/W2112530801","https://openalex.org/W2112697515","https://openalex.org/W2114741749","https://openalex.org/W2114865184","https://openalex.org/W2115254768","https://openalex.org/W2118252826","https://openalex.org/W2118881578","https://openalex.org/W2121506569","https://openalex.org/W2122524549","https://openalex.org/W2122649641","https://openalex.org/W2123067244","https://openalex.org/W2123868761","https://openalex.org/W2125901877","https://openalex.org/W2128084689","https://openalex.org/W2131313611","https://openalex.org/W2131419682","https://openalex.org/W2137461061","https://openalex.org/W2137826201","https://openalex.org/W2138020738","https://openalex.org/W2139367964","https://openalex.org/W2139865704","https://openalex.org/W2139976126","https://openalex.org/W2140197284","https://openalex.org/W2144611430","https://openalex.org/W2145965276","https://openalex.org/W2146266794","https://openalex.org/W2147735923","https://openalex.org/W2149644790","https://openalex.org/W2150327446","https://openalex.org/W2152509882","https://openalex.org/W2152515122","https://openalex.org/W2153507951","https://openalex.org/W2154129619","https://openalex.org/W2154886355","https://openalex.org/W2157085976","https://openalex.org/W2157599849","https://openalex.org/W2158156749","https://openalex.org/W2160842624","https://openalex.org/W2161549226","https://openalex.org/W2162539094","https://openalex.org/W2162922569","https://openalex.org/W2162955406","https://openalex.org/W2164763690","https://openalex.org/W2165199606","https://openalex.org/W2165253062","https://openalex.org/W2165608865","https://openalex.org/W2168233533","https://openalex.org/W2168335394","https://openalex.org/W2169913182","https://openalex.org/W2312944535","https://openalex.org/W2313234250","https://openalex.org/W2331903904","https://openalex.org/W2335173351","https://openalex.org/W2336594850","https://openalex.org/W2400681610","https://openalex.org/W2944112187","https://openalex.org/W4210437605","https://openalex.org/W4234314031","https://openalex.org/W4241340975"],"related_works":["https://openalex.org/W7166972757","https://openalex.org/W7034558365","https://openalex.org/W7143389293","https://openalex.org/W7143347201","https://openalex.org/W7065749282","https://openalex.org/W7043497208","https://openalex.org/W7151038997","https://openalex.org/W2080544748","https://openalex.org/W2165253062","https://openalex.org/W2927578299"],"abstract_inverted_index":{"Les":[0],"dysferlinopathies":[1],"sont":[2,61],"un":[3],"groupe":[4],"de":[5,15,28,48,71,86,100,104,132,135,152,170,173,175,178,205,232,244],"dystrophies":[6],"musculaires":[7],"progressives,":[8],"dues":[9],"\u00e0":[10,31,63,89],"l\u2019absence":[11],"ou":[12,188],"la":[13,16,75,108,110,130,133,153,162,179,193,198,200,218,223],"d\u00e9ficience":[14],"prot\u00e9ine":[17,163],"sarcolemmale":[18],"Dysferline,":[19],"cod\u00e9e":[20],"par":[21,195],"le":[22,40,42,46,51,98,102,146,157,242],"g\u00e8ne":[23,49,176],"DYSF.":[24],"Il":[25,124],"n\u2019existe":[26],"pas":[27,139],"traitement":[29,243],"disponible":[30],"l\u2019heure":[32],"actuelle.Le":[33],"virus":[34],"recombinant":[35],"adeno-associ\u00e9":[36],"(AAVr)":[37],"est":[38,197,213],"actuellement":[39],"vecteur":[41,59],"plus":[43,201],"appropri\u00e9":[44],"pour":[45,141,216,241],"transfert":[47,174,231],"dans":[50,97,107],"muscle":[52],"squelettique.":[53],"Cependant,":[54],"les":[55,113,116],"capacit\u00e9s":[56],"d\u2019encapsidation":[57],"du":[58,225],"AAVr":[60],"limit\u00e9es":[62],"~5kb,":[64],"ce":[65],"qui":[66],"emp\u00eache":[67],"l'encapsidation":[68],"des":[69,209],"g\u00e8nes":[70],"grande":[72],"taille,":[73],"comme":[74],"Dysferline.":[76],"Pour":[77],"contourner":[78],"cette":[79],"limitation,":[80],"d\u2019une":[81],"part,":[82,166],"plusieurs":[83,171],"Dysferlines":[84],"modulaires":[85],"taille":[87],"\u2a7d":[88],"4,7kb":[90],"(minig\u00e8ne)":[91],"ont":[92],"\u00e9t\u00e9":[93,126],"cr\u00e9\u00e9es":[94],"et":[95,112,155,221],"test\u00e9es,":[96],"but":[99],"rechercher":[101],"r\u00f4le":[103],"domaines":[105],"sp\u00e9cifiques":[106],"toxicit\u00e9,":[109],"fonction":[111],"interactions":[114],"avec":[115,161],"partenaires":[117],"ainsi":[118],"que":[119,128,145,156,192],"leur":[120],"int\u00e9r\u00eat":[121],"th\u00e9rapeutique":[122,239],"potentiel.":[123],"a":[125,190],"montr\u00e9":[127,191],":":[129],"restauration":[131],"capacit\u00e9":[134],"r\u00e9paration":[136],"membranaire":[137],"n\u2019est":[138],"suffisante":[140],"am\u00e9liorer":[142],"l\u2019histologie":[143],"musculaire,":[144],"domaine":[147,158],"DYSF":[148],"peut":[149],"\u00eatre":[150],"responsable":[151],"toxicit\u00e9":[154],"FER":[159],"interagit":[160],"OPTN.":[164],"D\u2019autre":[165],"une":[167,237],"\u00e9tude":[168],"comparative":[169],"techniques":[172],"entier":[177],"Dysferline":[180,211],"(concat\u00e9m\u00e9risation-\u00e9pissage,":[181],"recombinaison":[182],"homologue":[183],"dirig\u00e9e":[184],"(RDH),":[185],"strat\u00e9gie":[186,194],"hybride":[187],"assemblage)":[189],"RHD":[196,207,234],"m\u00e9thode":[199],"efficace.":[202],"L'administration":[203],"syst\u00e9mique":[204],"vecteurs":[206,233],"chez":[208],"souris":[210],"d\u00e9ficientes":[212],"suffisamment":[214],"efficace":[215],"corriger":[217],"pathologie":[219],"musculaire":[220],"augmenter":[222],"r\u00e9sistance":[224],"sarcolemme":[226],"aux":[227],"contraintes":[228],"m\u00e9caniques.":[229],"Le":[230],"pourra":[235],"devenir":[236],"approche":[238],"potentielle":[240],"dysferlinopathies.":[245]},"counts_by_year":[],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2026-04-02T00:00:00"}
