{"id":"https://openalex.org/W2004445261","doi":"https://doi.org/10.1016/0022-510x(93)90157-t","title":"Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathy","display_name":"Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathy","publication_year":1993,"publication_date":"1993-07-01","ids":{"openalex":"https://openalex.org/W2004445261","doi":"https://doi.org/10.1016/0022-510x(93)90157-t","mag":"2004445261","pmid":"https://pubmed.ncbi.nlm.nih.gov/8410070"},"language":"en","primary_location":{"id":"doi:10.1016/0022-510x(93)90157-t","doi":"https://doi.org/10.1016/0022-510x(93)90157-t","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0022-510x(93)90157-t","pdf_url":null,"source":{"id":"https://openalex.org/S169054600","display_name":"Journal of the Neurological Sciences","issn_l":"0022-510X","issn":["0022-510X","1878-5883"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the Neurological Sciences","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":"https://openalex.org/A5045535997","display_name":"Gen Sobue","orcid":"https://orcid.org/0000-0003-4769-5922","observed_orcids":["https://orcid.org/0000-0003-4769-5922"]},"institutions":[{"id":"https://openalex.org/I16528096","display_name":"Aichi Medical University","ror":"https://ror.org/02h6cs343","country_code":"JP","type":"education","lineage":["https://openalex.org/I16528096"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Gen Sobue","raw_affiliation_strings":["Division of Neurology, Fourth Department of Internal Medicine, Aichi Medical University, Aichi, Japan","Fourth Dept. of Internal Medicine, Aichi Medical University, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Fourth Department of Internal Medicine, Aichi Medical University, Aichi, Japan","institution_ids":["https://openalex.org/I16528096"]},{"raw_affiliation_string":"Fourth Dept. of Internal Medicine, Aichi Medical University, Japan","institution_ids":["https://openalex.org/I16528096"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039543515","display_name":"Manabu Doyu","orcid":"https://orcid.org/0000-0002-6264-9927","observed_orcids":["https://orcid.org/0000-0002-6264-9927"]},"institutions":[{"id":"https://openalex.org/I16528096","display_name":"Aichi Medical University","ror":"https://ror.org/02h6cs343","country_code":"JP","type":"education","lineage":["https://openalex.org/I16528096"]},{"id":"https://openalex.org/I4210090647","display_name":"Nagoya University Hospital","ror":"https://ror.org/008zz8m46","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210090647"]},{"id":"https://openalex.org/I60134161","display_name":"Nagoya University","ror":"https://ror.org/04chrp450","country_code":"JP","type":"education","lineage":["https://openalex.org/I60134161"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Manabu Doyu","raw_affiliation_strings":["Department of Neurology, Nagoya University School of Medicine, Nagoya, Japan","Division of Neurology, Fourth Department of Internal Medicine, Aichi Medical University, Aichi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Nagoya University School of Medicine, Nagoya, Japan","institution_ids":["https://openalex.org/I4210090647","https://openalex.org/I60134161"]},{"raw_affiliation_string":"Division of Neurology, Fourth Department of Internal Medicine, Aichi Medical University, Aichi, Japan","institution_ids":["https://openalex.org/I16528096"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069346691","display_name":"Teruhiko Kachi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210157504","display_name":"Chubu National Hospital","ror":"https://ror.org/0032p1p15","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210157504"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Teruhiko Kachi","raw_affiliation_strings":["Department of Neurology, Chubu National Hospital, Chubu, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Chubu National Hospital, Chubu, Japan","institution_ids":["https://openalex.org/I4210157504"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056070866","display_name":"Takeshi Yasuda","orcid":"https://orcid.org/0000-0001-6812-3048","observed_orcids":["https://orcid.org/0000-0001-6812-3048"]},"institutions":[{"id":"https://openalex.org/I4210153328","display_name":"Japanese Red Cross Nagoya Daini Hospital","ror":"https://ror.org/043pqsk20","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I2799517759","https://openalex.org/I4210153328"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Takeshi Yasuda","raw_affiliation_strings":["Department of Neurology, Nagoya Daini Red-Cross Hospital, Nagoya, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Nagoya Daini Red-Cross Hospital, Nagoya, Japan","institution_ids":["https://openalex.org/I4210153328"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113944234","display_name":"Eiichiro Mukai","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162311","display_name":"Higashi Nagoya National Hospital","ror":"https://ror.org/05x2sza30","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210137409","https://openalex.org/I4210162311"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Eiichiro Mukai","raw_affiliation_strings":["Department of Neurology, Nagoya National Hospital, Nagoya, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Nagoya National Hospital, Nagoya, Japan","institution_ids":["https://openalex.org/I4210162311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077166854","display_name":"Toshiyuki Kumagai","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162198","display_name":"Aichi Prefectural Government","ror":"https://ror.org/05gtpxs59","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210162198"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Toshiyuki Kumagai","raw_affiliation_strings":["Department of Child Neurology, Aichi Prefectural Colony Hospital, Aichi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Child Neurology, Aichi Prefectural Colony Hospital, Aichi, Japan","institution_ids":["https://openalex.org/I4210162198"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5113509453","display_name":"Terunori Mitsuma","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16528096","display_name":"Aichi Medical University","ror":"https://ror.org/02h6cs343","country_code":"JP","type":"education","lineage":["https://openalex.org/I16528096"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Terunori Mitsuma","raw_affiliation_strings":["Division of Neurology, Fourth Department of Internal Medicine, Aichi Medical University, Aichi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Fourth Department of Internal Medicine, Aichi Medical University, Aichi, Japan","institution_ids":["https://openalex.org/I16528096"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5045535997"],"corresponding_institution_ids":["https://openalex.org/I16528096"],"apc_list":{"value":3640,"currency":"USD","value_usd":3640},"apc_paid":null,"fwci":0.9787,"has_fulltext":false,"cited_by_count":78,"citation_normalized_percentile":{"value":0.72762241,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"117","issue":"1-2","first_page":"74","last_page":"78"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.6855000257492065,"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":0.6855000257492065,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.2485000044107437,"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/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":0.029600000008940697,"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/heterozygous-female-carriers","display_name":"heterozygous female carriers","score":0.8920000195503235},{"id":"https://openalex.org/keywords/cag-repeat-expansion","display_name":"CAG repeat expansion","score":0.6669999957084656},{"id":"https://openalex.org/keywords/androgen-receptor-gene","display_name":"androgen receptor gene","score":0.8080000281333923},{"id":"https://openalex.org/keywords/muscle-biopsy","display_name":"muscle biopsy","score":0.6940000057220459},{"id":"https://openalex.org/keywords/fast-twitch-muscle","display_name":"fast-twitch muscle","score":0.8679999709129333},{"id":"https://openalex.org/keywords/plasma-creatine-kinase","display_name":"plasma creatine kinase","score":0.7009999752044678},{"id":"https://openalex.org/keywords/myosin-light-chain","display_name":"myosin light chain","score":0.7590000033378601},{"id":"https://openalex.org/keywords/lactate","display_name":"lactate","score":0.6309999823570251},{"id":"https://openalex.org/keywords/pyruvate","display_name":"pyruvate","score":0.9959999918937683}],"concepts":[{"id":"https://openalex.org/C113280763","wikidata":"https://www.wikidata.org/wiki/Q2326546","display_name":"Subclinical infection","level":2,"score":0.7870320081710815},{"id":"https://openalex.org/C50965678","wikidata":"https://www.wikidata.org/wiki/Q2724302","display_name":"Abnormality","level":2,"score":0.5509610772132874},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5371957421302795},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.46887874603271484},{"id":"https://openalex.org/C62564794","wikidata":"https://www.wikidata.org/wiki/Q1988987","display_name":"X-linked recessive inheritance","level":4,"score":0.46353912353515625},{"id":"https://openalex.org/C36880943","wikidata":"https://www.wikidata.org/wiki/Q409458","display_name":"Creatine kinase","level":2,"score":0.45568394660949707},{"id":"https://openalex.org/C2779999465","wikidata":"https://www.wikidata.org/wiki/Q2094702","display_name":"Muscle biopsy","level":3,"score":0.4534476101398468},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.45004308223724365},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.42438846826553345},{"id":"https://openalex.org/C6997183","wikidata":"https://www.wikidata.org/wiki/Q271727","display_name":"Myosin","level":2,"score":0.41161173582077026},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.39766037464141846},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.35419178009033203},{"id":"https://openalex.org/C2775934546","wikidata":"https://www.wikidata.org/wiki/Q179991","display_name":"Biopsy","level":2,"score":0.2888391613960266},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.23724719882011414},{"id":"https://openalex.org/C35158069","wikidata":"https://www.wikidata.org/wiki/Q61333","display_name":"X chromosome","level":3,"score":0.12336468696594238},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.11148414015769958},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000200","descriptor_name":"Action Potentials","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001706","descriptor_name":"Biopsy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004303","descriptor_name":"Dosage Compensation, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004576","descriptor_name":"Electromyography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009132","descriptor_name":"Muscles","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009845","descriptor_name":"Oligospermia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011944","descriptor_name":"Receptors, Androgen","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012091","descriptor_name":"Repetitive Sequences, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014960","descriptor_name":"X Chromosome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016472","descriptor_name":"Motor Neuron Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016472","descriptor_name":"Motor Neuron Disease","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/0022-510x(93)90157-t","doi":"https://doi.org/10.1016/0022-510x(93)90157-t","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0022-510x(93)90157-t","pdf_url":null,"source":{"id":"https://openalex.org/S169054600","display_name":"Journal of the Neurological Sciences","issn_l":"0022-510X","issn":["0022-510X","1878-5883"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the Neurological Sciences","raw_type":"journal-article"},{"id":"pmid:8410070","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8410070","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":"Journal of the neurological sciences","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W646837704","https://openalex.org/W1968116524","https://openalex.org/W1969829788","https://openalex.org/W1973445288","https://openalex.org/W1982356711","https://openalex.org/W1985902870","https://openalex.org/W2006101507","https://openalex.org/W2006633324","https://openalex.org/W2020138426","https://openalex.org/W2029146706","https://openalex.org/W2029872802","https://openalex.org/W2034493211","https://openalex.org/W2055025630","https://openalex.org/W2056545208","https://openalex.org/W2106032723","https://openalex.org/W2113333419","https://openalex.org/W2117527164","https://openalex.org/W2249338989","https://openalex.org/W2324316160","https://openalex.org/W2406069351","https://openalex.org/W4242614327"],"related_works":["https://openalex.org/W2090183211","https://openalex.org/W2409192069","https://openalex.org/W2415056694","https://openalex.org/W2117527164","https://openalex.org/W211789608","https://openalex.org/W2044918821","https://openalex.org/W2063981027","https://openalex.org/W1982999121","https://openalex.org/W2001767199","https://openalex.org/W4243239300"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}