{"id":"https://openalex.org/W4299859883","doi":null,"title":"[Screening for mutations of the precursor of beta-amyloid protein in early forms of Alzheimer disease. French Study Group of Alzheimer Disease].","display_name":"[Screening for mutations of the precursor of beta-amyloid protein in early forms of Alzheimer disease. French Study Group of Alzheimer Disease].","publication_year":1993,"publication_date":"1993-01-01","ids":{"openalex":"https://openalex.org/W4299859883","pmid":"https://pubmed.ncbi.nlm.nih.gov/8023065"},"language":"fr","primary_location":{"id":"pmid:8023065","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8023065","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Revue neurologique","raw_type":"Clinical Trial"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"149","issue":"10","first_page":"528","last_page":"31"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":0.9970999956130981,"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/T10086","display_name":"Alzheimer's disease research and treatments","score":0.9970999956130981,"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/T10009","display_name":"Dementia and Cognitive Impairment Research","score":0.002899999963119626,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"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/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","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"}}],"keywords":[{"id":"https://openalex.org/keywords/alzheimer-s-disease","display_name":"Alzheimer's disease","score":0.9710000157356262},{"id":"https://openalex.org/keywords/amyloid-precursor-protein","display_name":"amyloid precursor protein","score":0.8240000009536743},{"id":"https://openalex.org/keywords/app-gene-mutations","display_name":"APP gene mutations","score":0.8970000147819519},{"id":"https://openalex.org/keywords/early-onset-alzheimer-s-disease","display_name":"early-onset Alzheimer's disease","score":0.9300000071525574},{"id":"https://openalex.org/keywords/familial-alzheimer-s-disease","display_name":"familial Alzheimer's disease","score":0.9940000176429749},{"id":"https://openalex.org/keywords/sporadic-alzheimer-s-disease","display_name":"sporadic Alzheimer's disease","score":0.9160000085830688},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.6859999895095825},{"id":"https://openalex.org/keywords/mutation-frequency","display_name":"mutation frequency","score":0.5529999732971191}],"concepts":[{"id":"https://openalex.org/C31705614","wikidata":"https://www.wikidata.org/wiki/Q423510","display_name":"Amyloid precursor protein","level":4,"score":0.701038122177124},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.6429009437561035},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5626163482666016},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5258551239967346},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.4928727149963379},{"id":"https://openalex.org/C2777767895","wikidata":"https://www.wikidata.org/wiki/Q4691924","display_name":"Age of onset","level":3,"score":0.48070746660232544},{"id":"https://openalex.org/C2777427615","wikidata":"https://www.wikidata.org/wiki/Q954257","display_name":"Degenerative disease","level":3,"score":0.47031036019325256},{"id":"https://openalex.org/C502032728","wikidata":"https://www.wikidata.org/wiki/Q11081","display_name":"Alzheimer's disease","level":3,"score":0.4581119418144226},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4418797492980957},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.40620508790016174},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3529062271118164},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.16935613751411438}],"mesh":[{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003062","descriptor_name":"Codon","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016564","descriptor_name":"Amyloid beta-Protein Precursor","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":1,"locations":[{"id":"pmid:8023065","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8023065","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Revue neurologique","raw_type":"Clinical Trial"}],"best_oa_location":null,"sustainable_development_goals":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2159046931","https://openalex.org/W2001415432","https://openalex.org/W2077128585","https://openalex.org/W2007484684","https://openalex.org/W2314402547","https://openalex.org/W2088362843","https://openalex.org/W2045043328","https://openalex.org/W1991093285","https://openalex.org/W2059518746","https://openalex.org/W2058723245"],"abstract_inverted_index":{"Genetic":[0],"linkage":[1],"studies":[2],"suggest":[3],"that":[4,12,119],"Alzheimer's":[5],"disease":[6,19],"(AD)":[7],"is":[8,21,152,155,174],"genetically":[9],"heterogeneous":[10],"and":[11,46,67,80,93,135],"in":[13,53,171],"several":[14,34],"early":[15,50,132],"onset":[16,51,84,133],"families":[17],"the":[18,24,57,112,120,143,147,157,160,167],"locus":[20],"close":[22],"to":[23,55,117],"amyloid":[25],"precursor":[26],"protein":[27],"(APP)":[28],"gene":[29,38],"on":[30],"chromosome":[31],"21.":[32],"Recently,":[33],"mutations":[35,170],"of":[36,49,59,61,77,83,108,130,139,146],"APP":[37,64,68,121,148,161,168],"have":[39],"been":[40],"described.":[41],"We":[42],"screened":[43],"100":[44],"sporadic":[45,92],"familial":[47,96,140],"cases":[48,90,110],"AD":[52,79,173],"order":[54],"determine":[56],"frequency":[58],"two":[60],"these":[62],"mutations,":[63],"717":[65,122,149,169],"Val-->Ile":[66,123,150],"713":[69,162],"Ala-->Val.":[70],"The":[71],"patients":[72],"included":[73],"fulfilled":[74],"NINCDS-ADRDA":[75],"criteria":[76],"probable":[78],"their":[81],"age":[82],"was":[85],"60":[86],"or":[87,102],"lower.":[88],"Seventy-five":[89],"were":[91,95],"25":[94],"with":[97],"at":[98],"least":[99],"one":[100],"first":[101],"second":[103],"degree":[104],"affected":[105],"relative.":[106],"None":[107],"our":[109],"presented":[111],"mutations.":[113],"Combined":[114],"results":[115],"allow":[116],"presume":[118],"mutation":[124,151],"accounts":[125],"for":[126,159,166,182],"less":[127],"than":[128],"0.8%":[129],"all":[131],"AD,":[134],"3.8":[136],"+/-":[137],"2.8%":[138],"cases.":[141],"While":[142],"pathogenic":[144],"effect":[145],"established,":[153],"this":[154],"not":[156],"case":[158],"Ala-->Val":[163],"mutation.":[164],"Searching":[165],"early-onset":[172],"fully":[175],"justified,":[176],"taking":[177],"into":[178],"account":[179],"its":[180],"consequences":[181],"genetic":[183],"counselling.":[184]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2022-10-03T00:00:00"}
