{"id":"https://openalex.org/W2091996506","doi":"https://doi.org/10.1001/archneur.61.8.1327-a","title":"Haplotype-Phenotype Correlations in Kindreds With the N279K Mutation in the Tau Gene","display_name":"Haplotype-Phenotype Correlations in Kindreds With the N279K Mutation in the Tau Gene","publication_year":2004,"publication_date":"2004-08-01","ids":{"openalex":"https://openalex.org/W2091996506","doi":"https://doi.org/10.1001/archneur.61.8.1327-a","mag":"2091996506","pmid":"https://pubmed.ncbi.nlm.nih.gov/15313857"},"language":"en","primary_location":{"id":"doi:10.1001/archneur.61.8.1327-a","doi":"https://doi.org/10.1001/archneur.61.8.1327-a","is_oa":false,"landing_page_url":"https://doi.org/10.1001/archneur.61.8.1327-a","pdf_url":null,"source":{"id":"https://openalex.org/S4210230857","display_name":"Archives of Neurology","issn_l":"0003-9942","issn":["0003-9942","1538-3687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Neurology","raw_type":"journal-article"},"volume":null,"type":"letter","indexed_in":["crossref","pubmed"],"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/A5068423077","display_name":"Bryan Keith Woodruff","orcid":"https://orcid.org/0000-0002-4728-7294","observed_orcids":["https://orcid.org/0000-0002-4728-7294"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bryan K. Woodruff","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109309429","display_name":"Yasuhiko Baba","orcid":"https://orcid.org/0000-0002-5124-5337","observed_orcids":["https://orcid.org/0000-0002-5124-5337"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yasuhiko Baba","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109246424","display_name":"Michael L. Hutton","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Michael L. Hutton","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022481370","display_name":"Zbigniew K. Wszo\u0142ek","orcid":"https://orcid.org/0000-0001-5487-1053","observed_orcids":["https://orcid.org/0000-0001-5487-1053"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Zbigniew K. Wszolek","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028175156","display_name":"Yoshio Tsuboi","orcid":"https://orcid.org/0000-0002-6758-0981","observed_orcids":["https://orcid.org/0000-0002-6758-0981"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yoshio Tsuboi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042548555","display_name":"Tomonori Kobayashi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tomonori Kobayashi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047929315","display_name":"Bernardino Francesco Ghetti","orcid":"https://orcid.org/0000-0002-1842-8019","observed_orcids":["https://orcid.org/0000-0002-1842-8019"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bernardino Ghetti","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108481248","display_name":"Kunimasa Arima","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kunimasa Arima","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108574984","display_name":"Minoru Yasuda","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Minoru Yasuda","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5054027214","display_name":"Olivier Rascol","orcid":"https://orcid.org/0000-0002-1410-6397","observed_orcids":["https://orcid.org/0000-0002-1410-6397"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Olivier Rascol","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":false,"cited_by_count":2,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"61","issue":"8","first_page":"1327; author reply 1327","last_page":"1327; author reply 1327"},"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":0.9965999722480774,"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":0.9965999722480774,"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":0.001500000013038516,"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":0.00039999998989515007,"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/tau-gene","display_name":"tau gene","score":0.878000020980835},{"id":"https://openalex.org/keywords/familial-alzheimer-s-disease","display_name":"familial Alzheimer's disease","score":0.7369999885559082},{"id":"https://openalex.org/keywords/kindred","display_name":"kindred","score":0.7020000219345093}],"concepts":[{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.8233186602592468},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7632977366447449},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6288831830024719},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5444745421409607},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5308238863945007},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5297428369522095},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.2163969874382019}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001216","descriptor_name":"Asparagine","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":"D006239","descriptor_name":"Haplotypes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008239","descriptor_name":"Lysine","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","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":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016875","descriptor_name":"tau Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1001/archneur.61.8.1327-a","doi":"https://doi.org/10.1001/archneur.61.8.1327-a","is_oa":false,"landing_page_url":"https://doi.org/10.1001/archneur.61.8.1327-a","pdf_url":null,"source":{"id":"https://openalex.org/S4210230857","display_name":"Archives of Neurology","issn_l":"0003-9942","issn":["0003-9942","1538-3687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Neurology","raw_type":"journal-article"},{"id":"pmid:15313857","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15313857","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":"Archives of neurology","raw_type":"Comment"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8224999904632568,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":3,"referenced_works":["https://openalex.org/W1559933799","https://openalex.org/W2042644489","https://openalex.org/W2053526975"],"related_works":["https://openalex.org/W4250606575","https://openalex.org/W2711987455","https://openalex.org/W2155893343","https://openalex.org/W2033867506","https://openalex.org/W4255544237","https://openalex.org/W7027241307","https://openalex.org/W1559933799","https://openalex.org/W7055309273","https://openalex.org/W2775630634","https://openalex.org/W2221168233"],"abstract_inverted_index":null,"counts_by_year":[{"year":2019,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
