{"id":"https://openalex.org/W2232854494","doi":null,"title":"Maladie de Huntington \u00e0 d\u00e9but tardif \u00e0 propos d'une s\u00e9rie de 23 cas","display_name":"Maladie de Huntington \u00e0 d\u00e9but tardif \u00e0 propos d'une s\u00e9rie de 23 cas","publication_year":2015,"publication_date":"2015-09-02","ids":{"openalex":"https://openalex.org/W2232854494","mag":"2232854494"},"language":"fr","primary_location":{"id":"pmh:oai:HAL:dumas-01214362v1","doi":null,"is_oa":true,"landing_page_url":"https://dumas.ccsd.cnrs.fr/dumas-01214362","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":"https://dumas.ccsd.cnrs.fr/dumas-01214362","raw_type":"info:eu-repo/semantics/masterThesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://dumas.ccsd.cnrs.fr/dumas-01214362","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5050542059","display_name":"Audrey Rouill\u00e9","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I62396329","display_name":"Universit\u00e9 de Rouen Normandie","ror":"https://ror.org/03nhjew95","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210105918","https://openalex.org/I62396329"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Audrey Rouill\u00e9","raw_affiliation_strings":["UNIROUEN - UFR Sant\u00e9"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UNIROUEN - UFR Sant\u00e9","institution_ids":["https://openalex.org/I62396329"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5050542059"],"corresponding_institution_ids":["https://openalex.org/I62396329"],"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":"66","last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9994999766349792,"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"}},"topics":[{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9994999766349792,"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/T10919","display_name":"Deep Brain Stimulation and Movement Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T13481","display_name":"Neurological diseases and metabolism","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"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/huntington-s-disease","display_name":"Huntington's disease","score":0.7879999876022339},{"id":"https://openalex.org/keywords/age-of-onset","display_name":"age of onset","score":0.6809999942779541},{"id":"https://openalex.org/keywords/cag-repeat-expansion","display_name":"CAG repeat expansion","score":0.675000011920929},{"id":"https://openalex.org/keywords/chorea","display_name":"chorea","score":0.4309999942779541},{"id":"https://openalex.org/keywords/gait-and-balance-disorders","display_name":"gait and balance disorders","score":0.8399999737739563},{"id":"https://openalex.org/keywords/psychiatric-symptoms","display_name":"psychiatric symptoms","score":0.8190000057220459},{"id":"https://openalex.org/keywords/apathy","display_name":"apathy","score":0.621999979019165},{"id":"https://openalex.org/keywords/depression","display_name":"depression","score":0.6949999928474426},{"id":"https://openalex.org/keywords/irritability","display_name":"irritability","score":0.9309999942779541},{"id":"https://openalex.org/keywords/family-history-medicine","display_name":"family history (medicine)","score":0.6299999952316284},{"id":"https://openalex.org/keywords/case-series","display_name":"case series","score":0.4399999976158142},{"id":"https://openalex.org/keywords/neurodegeneration","display_name":"neurodegeneration","score":0.4440000057220459},{"id":"https://openalex.org/keywords/neuroinflammation","display_name":"neuroinflammation","score":0.49900001287460327},{"id":"https://openalex.org/keywords/neurodegeneration-markers","display_name":"neurodegeneration biomarkers","score":0.4449999928474426},{"id":"https://openalex.org/keywords/neuroinflammation-biomarkers","display_name":"neuroinflammation biomarkers","score":0.6470000147819519}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8123326301574707},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.6305245161056519}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:HAL:dumas-01214362v1","doi":null,"is_oa":true,"landing_page_url":"https://dumas.ccsd.cnrs.fr/dumas-01214362","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":"https://dumas.ccsd.cnrs.fr/dumas-01214362","raw_type":"info:eu-repo/semantics/masterThesis"},{"id":"mag:2232854494","doi":null,"is_oa":false,"landing_page_url":"https://dumas.ccsd.cnrs.fr/dumas-01214362","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:HAL:dumas-01214362v1","doi":null,"is_oa":true,"landing_page_url":"https://dumas.ccsd.cnrs.fr/dumas-01214362","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":"https://dumas.ccsd.cnrs.fr/dumas-01214362","raw_type":"info:eu-repo/semantics/masterThesis"},"sustainable_development_goals":[{"score":0.98580002784729,"display_name":"Good health and well-being","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":76,"referenced_works":["https://openalex.org/W98290040","https://openalex.org/W245393974","https://openalex.org/W1500857601","https://openalex.org/W1606783190","https://openalex.org/W1805819998","https://openalex.org/W1824233491","https://openalex.org/W1893983977","https://openalex.org/W1962249623","https://openalex.org/W1967627236","https://openalex.org/W1967970352","https://openalex.org/W1973696405","https://openalex.org/W1975200999","https://openalex.org/W1979350967","https://openalex.org/W1982138681","https://openalex.org/W1987498933","https://openalex.org/W1989954667","https://openalex.org/W1990406694","https://openalex.org/W1992305831","https://openalex.org/W1993508623","https://openalex.org/W1994473527","https://openalex.org/W1996789718","https://openalex.org/W1998902830","https://openalex.org/W2001573546","https://openalex.org/W2006372829","https://openalex.org/W2009589308","https://openalex.org/W2015789019","https://openalex.org/W2020716284","https://openalex.org/W2021756787","https://openalex.org/W2031460875","https://openalex.org/W2033297517","https://openalex.org/W2039232434","https://openalex.org/W2040158095","https://openalex.org/W2040257581","https://openalex.org/W2041371057","https://openalex.org/W2042567578","https://openalex.org/W2042879634","https://openalex.org/W2048910236","https://openalex.org/W2052361082","https://openalex.org/W2052620246","https://openalex.org/W2054046372","https://openalex.org/W2054273322","https://openalex.org/W2055015099","https://openalex.org/W2059982830","https://openalex.org/W2080439721","https://openalex.org/W2082056883","https://openalex.org/W2085180196","https://openalex.org/W2087814712","https://openalex.org/W2090132942","https://openalex.org/W2095123707","https://openalex.org/W2106490406","https://openalex.org/W2108488819","https://openalex.org/W2109948829","https://openalex.org/W2113808242","https://openalex.org/W2114111496","https://openalex.org/W2114999674","https://openalex.org/W2123275897","https://openalex.org/W2123349094","https://openalex.org/W2123597585","https://openalex.org/W2124660038","https://openalex.org/W2125360737","https://openalex.org/W2125705043","https://openalex.org/W2134401364","https://openalex.org/W2134664197","https://openalex.org/W2141915377","https://openalex.org/W2143737307","https://openalex.org/W2146267270","https://openalex.org/W2148853271","https://openalex.org/W2152672520","https://openalex.org/W2157513658","https://openalex.org/W2158085746","https://openalex.org/W2159384137","https://openalex.org/W2159926072","https://openalex.org/W2167093496","https://openalex.org/W2169735361","https://openalex.org/W2170661153","https://openalex.org/W4247326763"],"related_works":["https://openalex.org/W2004088071","https://openalex.org/W2326483691","https://openalex.org/W1805044138","https://openalex.org/W7140228368","https://openalex.org/W2592466104","https://openalex.org/W2323086059","https://openalex.org/W2326576354","https://openalex.org/W2508560302","https://openalex.org/W7208030048","https://openalex.org/W2335899767"],"abstract_inverted_index":{"Introduction":[0],":":[1,74,152,285],"La":[2,197],"maladie":[3,18,56,106,289],"de":[4,14,16,21,27,37,42,48,55,57,62,67,78,88,91,95,100,104,107,123,126,128,139,160,163,177,179,182,190,232,236,288,290,296,318,321,357],"Huntington":[5,58,108,291],"a":[6,52,244,292],"debut":[7,15,53,161,293],"tardif":[8,54,294],"est":[9,362],"definie":[10],"par":[11],"un":[12,262],"\u00e2ge":[13],"la":[17,31,105,124,129,144,233,322,358],"apres":[19],"l\u2019\u00e2ge":[20,138],"60":[22],"ans.":[23],"Il":[24],"existe":[25],"peu":[26],"cas":[28,356],"decrits":[29],"dans":[30,85],"litterature":[32],"et":[33,47,69,72,90,97,113,149,189,225,235,271,320,337,360],"il":[34,351],"s'agit":[35],"surtout":[36],"petites":[38],"series":[39,61],"anciennes.":[40],"L\u2019objectif":[41],"ce":[43],"travail":[44],"etait":[45,162,181,201,243],"d'etudier":[46],"decrire":[49],"les":[50,60,86,110,135,141,365],"formes":[51,287],"sur":[59,185,193],"patients":[63,83,154,168,205,212,227,248,259,266,273,278],"issus":[64],"des":[65,82,119,215,222,230,254,281,307,316,333],"CHU":[66,94],"Rouen":[68,96],"d'Amiens.":[70],"Patients":[71],"methodes":[73],"Nous":[75,132],"avons":[76,133],"inclus":[77],"facon":[79],"retrospective":[80],"l'ensemble":[81],"suivis":[84],"services":[87],"Neurologie":[89,101],"Genetique":[92],"du":[93,98,209,354],"service":[99],"d'Amiens,":[102],"atteints":[103],"entre":[109],"annees":[111],"1998":[112],"2014.":[114],"Les":[115,299,324],"donnees":[116,127],"etaient":[117,274],"issues":[118],"dossiers":[120],"cliniques":[121],"ou":[122,252],"base":[125],"cohorte":[130],"REGISTRY.":[131],"recueilli":[134],"informations":[136],"concernant":[137],"debut,":[140],"antecedents":[142],"familiaux,":[143],"genetique,":[145],"l\u2019evaluation":[146],"motrice,":[147],"cognitive":[148],"psychiatrique.":[150],"Resultats":[151],"23":[153],"ont":[155],"ete":[156],"identifies.":[157],"L\u2019\u00e2ge":[158],"moyen":[159,176,242],"66,1":[164],"ans":[165],"[60-84].":[166],"10":[167],"(43,5%)":[169],"n'avaient":[170],"aucun":[171],"antecedent":[172],"familial.":[173],"Le":[174,238,340],"nombre":[175],"repetitions":[178],"triplets":[180],"40,6":[183],"[38-42]":[184],"le":[186,194],"premier":[187,312,355],"allele":[188],"18,3":[191],"[14-24]":[192],"deuxieme":[195],"allele.":[196],"presentation":[198],"clinique":[199],"initiale":[200],"motrice":[202],"chez":[203],"15":[204,219,277],"(65,3%).":[206],"Au":[207],"moment":[208],"diagnostic,":[210],"22":[211],"(95,6%)":[213],"presentaient":[214,253,268],"symptomes":[216,300],"moteurs":[217,301],"dont":[218,257],"(68,2%)":[220],"avaient":[221,229,250,261,280],"mouvements":[223,308],"choreiques":[224,309],"17":[226],"(77,3%)":[228],"troubles":[231,255,282,317,325],"marche":[234],"l\u2019equilibre.":[237],"score":[239],"UHDRS":[240],"(TMS)":[241],"44":[245],"[18-85].":[246],"14":[247],"(60,9%)":[249],"presente":[251],"psychiatriques":[256],"5":[258,265],"(35,7%)":[260,267],"syndrome":[263],"depressif,":[264],"une":[269,331,338],"irritabilite":[270],"9":[272],"apathiques":[275],"(64,3%).":[276],"(65,2%)":[279],"cognitifs.":[283],"Discussion":[284],"Ces":[286],"sont":[295,302,327],"severite":[297],"variable.":[298],"tres":[303],"nettement":[304],"preponderants":[305],"avec":[306,330],"generalement":[310],"au":[311],"plan":[313],"mais":[314],"aussi":[315],"l'equilibre":[319],"posture.":[323],"cognitifs":[326],"egalement":[328],"frequents":[329],"alteration":[332],"fonctions":[334],"cognitives":[335],"globales":[336],"apathie.":[339],"diagnostic":[341],"doit":[342],"etre":[343],"evoque":[344],"meme":[345],"en":[346],"l'absence":[347],"d'antecedents":[348],"familiaux":[349],"car":[350],"peut":[352],"s'agir":[353],"famille":[359],"l'enjeu":[361],"important":[363],"pour":[364],"descendants.":[366]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}