{"id":"https://openalex.org/W2017779287","doi":"https://doi.org/10.1212/wnl.42.9.1724","title":"Androgen receptor abnormality in X\u2010linked spinal and bulbar muscular atrophy","display_name":"Androgen receptor abnormality in X\u2010linked spinal and bulbar muscular atrophy","publication_year":1992,"publication_date":"1992-09-01","ids":{"openalex":"https://openalex.org/W2017779287","doi":"https://doi.org/10.1212/wnl.42.9.1724","mag":"2017779287","pmid":"https://pubmed.ncbi.nlm.nih.gov/1513460"},"language":"en","primary_location":{"id":"doi:10.1212/wnl.42.9.1724","doi":"https://doi.org/10.1212/wnl.42.9.1724","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.42.9.1724","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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":null,"display_name":"T. Matsuura","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I205349734","display_name":"Hokkaido University","ror":"https://ror.org/02e16g702","country_code":"JP","type":"education","lineage":["https://openalex.org/I205349734"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"T. Matsuura","raw_affiliation_strings":["Department of Neurology, Hokkaido University School of Medicine, Sapporo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Hokkaido University School of Medicine, Sapporo, Japan","institution_ids":["https://openalex.org/I205349734"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006943647","display_name":"Takayoshi Demura","orcid":"https://orcid.org/0000-0002-8957-1947","observed_orcids":["https://orcid.org/0000-0002-8957-1947"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"T. Demura","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068431971","display_name":"Yasuharu Aimoto","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Y. Aimoto","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010300845","display_name":"Toshiki Mizuno","orcid":"https://orcid.org/0000-0002-7907-8243","observed_orcids":["https://orcid.org/0000-0002-7907-8243"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"T. Mizuno","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033724537","display_name":"Fumio Moriwaka","orcid":"https://orcid.org/0009-0003-6850-0079","observed_orcids":["https://orcid.org/0009-0003-6850-0079"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"F. Moriwaka","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5054542665","display_name":"K Tashiro","orcid":"https://orcid.org/0000-0003-2648-865X","observed_orcids":["https://orcid.org/0000-0003-2648-865X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"K. Tashiro","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.724,"has_fulltext":false,"cited_by_count":33,"citation_normalized_percentile":{"value":0.85487613,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"42","issue":"9","first_page":"1724","last_page":"1724"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9916999936103821,"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":0.9916999936103821,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.00279999990016222,"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/T11956","display_name":"Sexual Differentiation and Disorders","score":0.0012000000569969416,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/androgen-receptor","display_name":"androgen receptor","score":0.9160000085830688},{"id":"https://openalex.org/keywords/feminization","display_name":"feminization","score":0.8949999809265137},{"id":"https://openalex.org/keywords/hypogonadism","display_name":"hypogonadism","score":0.9959999918937683},{"id":"https://openalex.org/keywords/scrotal-skin","display_name":"scrotal skin","score":0.8709999918937683},{"id":"https://openalex.org/keywords/pathogenesis","display_name":"pathogenesis","score":0.5680000185966492}],"concepts":[{"id":"https://openalex.org/C2780434838","wikidata":"https://www.wikidata.org/wiki/Q1995327","display_name":"Spinal and bulbar muscular atrophy","level":5,"score":0.9751628041267395},{"id":"https://openalex.org/C61367390","wikidata":"https://www.wikidata.org/wiki/Q416601","display_name":"Androgen receptor","level":4,"score":0.8603447675704956},{"id":"https://openalex.org/C50965678","wikidata":"https://www.wikidata.org/wiki/Q2724302","display_name":"Abnormality","level":2,"score":0.7916193008422852},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.6480185985565186},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6368184089660645},{"id":"https://openalex.org/C2777911890","wikidata":"https://www.wikidata.org/wiki/Q62614","display_name":"Androgen","level":3,"score":0.43906304240226746},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4143607020378113},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4087948203086853},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3713977634906769},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3452684283256531},{"id":"https://openalex.org/C71315377","wikidata":"https://www.wikidata.org/wiki/Q11364","display_name":"Hormone","level":2,"score":0.08250805735588074},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0},{"id":"https://openalex.org/C2780192828","wikidata":"https://www.wikidata.org/wiki/Q181257","display_name":"Prostate cancer","level":3,"score":0.0},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000368","descriptor_name":"Aged","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":"D007124","descriptor_name":"Immunoenzyme Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","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":"D009134","descriptor_name":"Muscular Atrophy, Spinal","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009134","descriptor_name":"Muscular Atrophy, Spinal","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D011944","descriptor_name":"Receptors, Androgen","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":true},{"descriptor_ui":"D012611","descriptor_name":"Scrotum","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012867","descriptor_name":"Skin","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D014960","descriptor_name":"X Chromosome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1212/wnl.42.9.1724","doi":"https://doi.org/10.1212/wnl.42.9.1724","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.42.9.1724","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},{"id":"pmid:1513460","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1513460","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":"Neurology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9537000060081482,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2034493211","https://openalex.org/W4391690871","https://openalex.org/W1994560179","https://openalex.org/W1973538757","https://openalex.org/W2067261805","https://openalex.org/W3205181237","https://openalex.org/W1204183464","https://openalex.org/W2559599922","https://openalex.org/W2003966010","https://openalex.org/W2163958003"],"abstract_inverted_index":{"X-linked":[0],"spinal":[1],"and":[2,12,31],"bulbar":[3],"muscular":[4],"atrophy":[5],"(SBMA)":[6],"is":[7,36],"usually":[8],"associated":[9],"with":[10,29],"feminization":[11],"hypogonadism.":[13],"We":[14],"were":[15],"unable":[16],"to":[17],"find":[18],"androgen":[19],"receptor":[20],"(AR)":[21],"in":[22],"the":[23,37,40],"scrotal":[24],"skin":[25],"of":[26,39],"three":[27],"patients":[28],"SBMA,":[30],"propose":[32],"that":[33],"AR":[34],"abnormality":[35],"cause":[38],"disease.":[41]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}