{"id":"https://openalex.org/W2012844174","doi":"https://doi.org/10.1007/s100480050036","title":"The mutation properties of spinal and bulbar muscular atrophy disease alleles","display_name":"The mutation properties of spinal and bulbar muscular atrophy disease alleles","publication_year":1998,"publication_date":"1998-08-17","ids":{"openalex":"https://openalex.org/W2012844174","doi":"https://doi.org/10.1007/s100480050036","mag":"2012844174","pmid":"https://pubmed.ncbi.nlm.nih.gov/10732798"},"language":"en","primary_location":{"id":"doi:10.1007/s100480050036","doi":"https://doi.org/10.1007/s100480050036","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s100480050036","pdf_url":null,"source":{"id":"https://openalex.org/S185726200","display_name":"Neurogenetics","issn_l":"1364-6745","issn":["1364-6745","1364-6753"],"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-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"neurogenetics","raw_type":"journal-article"},"volume":null,"type":"article","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/A5113469808","display_name":"Raji Paul Grewal","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1174212","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60","country_code":"US","type":"education","lineage":["https://openalex.org/I1174212"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"R. P. Grewal","raw_affiliation_strings":["Molecular Biology Program, University of Southern California, Los Angeles 90089-1340, USA","Molecular Biology Program, 835\u2009W. 37th Street, SHS 172, University of Southern California, Los Angeles, CA 900089-1340, USA, , US"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Biology Program, University of Southern California, Los Angeles 90089-1340, USA","institution_ids":["https://openalex.org/I1174212"]},{"raw_affiliation_string":"Molecular Biology Program, 835\u2009W. 37th Street, SHS 172, University of Southern California, Los Angeles, CA 900089-1340, USA, , US","institution_ids":["https://openalex.org/I1174212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111892795","display_name":"Esther P. Leeflang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1174212","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60","country_code":"US","type":"education","lineage":["https://openalex.org/I1174212"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"E. P. Leeflang","raw_affiliation_strings":["Molecular Biology Program, 835\u2009W. 37th Street, SHS 172, University of Southern California, Los Angeles, CA 900089-1340, USA, , US"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Biology Program, 835\u2009W. 37th Street, SHS 172, University of Southern California, Los Angeles, CA 900089-1340, USA, , US","institution_ids":["https://openalex.org/I1174212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100351902","display_name":"Lin Zhang","orcid":"https://orcid.org/0000-0003-0018-3903","observed_orcids":["https://orcid.org/0000-0003-0018-3903"]},"institutions":[{"id":"https://openalex.org/I1174212","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60","country_code":"US","type":"education","lineage":["https://openalex.org/I1174212"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"L. Zhang","raw_affiliation_strings":["Molecular Biology Program, 835\u2009W. 37th Street, SHS 172, University of Southern California, Los Angeles, CA 900089-1340, USA, , US"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Biology Program, 835\u2009W. 37th Street, SHS 172, University of Southern California, Los Angeles, CA 900089-1340, USA, , US","institution_ids":["https://openalex.org/I1174212"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5079568269","display_name":"Norman Arnheim","orcid":"https://orcid.org/0000-0003-1247-1347","observed_orcids":["https://orcid.org/0000-0003-1247-1347"]},"institutions":[{"id":"https://openalex.org/I1174212","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60","country_code":"US","type":"education","lineage":["https://openalex.org/I1174212"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"N. Arnheim","raw_affiliation_strings":["Molecular Biology Program, 835\u2009W. 37th Street, SHS 172, University of Southern California, Los Angeles, CA 900089-1340, USA, , US"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Biology Program, 835\u2009W. 37th Street, SHS 172, University of Southern California, Los Angeles, CA 900089-1340, USA, , US","institution_ids":["https://openalex.org/I1174212"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I1174212"],"apc_list":{"value":4590,"currency":"USD","value_usd":4590},"apc_paid":null,"fwci":0.3945,"has_fulltext":false,"cited_by_count":10,"citation_normalized_percentile":{"value":0.52316795,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":94},"biblio":{"volume":"1","issue":"4","first_page":"249","last_page":"252"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9990000128746033,"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":0.9990000128746033,"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":0.0003000000142492354,"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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"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/spinal-and-bulbar-muscular-atrophy","display_name":"spinal and bulbar muscular atrophy","score":0.9900000095367432},{"id":"https://openalex.org/keywords/cag-repeat-expansion","display_name":"CAG repeat expansion","score":0.8619999885559082},{"id":"https://openalex.org/keywords/trinucleotide-repeat-disorders","display_name":"trinucleotide repeat disorders","score":0.7770000100135803},{"id":"https://openalex.org/keywords/genetic-anticipation","display_name":"genetic anticipation","score":0.7889999747276306},{"id":"https://openalex.org/keywords/x-chromosome","display_name":"X chromosome","score":0.4259999990463257},{"id":"https://openalex.org/keywords/repeat-instability","display_name":"repeat instability","score":0.6330000162124634},{"id":"https://openalex.org/keywords/paternal-transmission","display_name":"paternal transmission","score":0.7549999952316284},{"id":"https://openalex.org/keywords/mutation-spectrum","display_name":"mutation spectrum","score":0.4950000047683716}],"concepts":[{"id":"https://openalex.org/C2780434838","wikidata":"https://www.wikidata.org/wiki/Q1995327","display_name":"Spinal and bulbar muscular atrophy","level":5,"score":0.8728952407836914},{"id":"https://openalex.org/C166252455","wikidata":"https://www.wikidata.org/wiki/Q6736610","display_name":"Trinucleotide repeat expansion","level":4,"score":0.8101080060005188},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6949862241744995},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6847010850906372},{"id":"https://openalex.org/C176777502","wikidata":"https://www.wikidata.org/wiki/Q4774623","display_name":"Anticipation (artificial intelligence)","level":2,"score":0.5901837348937988},{"id":"https://openalex.org/C134305767","wikidata":"https://www.wikidata.org/wiki/Q725508","display_name":"Somatic cell","level":3,"score":0.5076378583908081},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.4974868595600128},{"id":"https://openalex.org/C2781087480","wikidata":"https://www.wikidata.org/wiki/Q17145","display_name":"Sperm","level":2,"score":0.43867388367652893},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.25821179151535034},{"id":"https://openalex.org/C2780192828","wikidata":"https://www.wikidata.org/wiki/Q181257","display_name":"Prostate cancer","level":3,"score":0.061464130878448486},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.0},{"id":"https://openalex.org/C61367390","wikidata":"https://www.wikidata.org/wiki/Q416601","display_name":"Androgen receptor","level":4,"score":0.0},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"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":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000302","qualifier_name":"isolation & purification","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","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":"D008214","descriptor_name":"Lymphocytes","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009134","descriptor_name":"Muscular Atrophy, Spinal","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D009134","descriptor_name":"Muscular Atrophy, Spinal","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D013094","descriptor_name":"Spermatozoa","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":false},{"descriptor_ui":"D013094","descriptor_name":"Spermatozoa","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014960","descriptor_name":"X Chromosome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018911","descriptor_name":"Trinucleotide Repeats","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019680","descriptor_name":"Trinucleotide Repeat Expansion","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020132","descriptor_name":"Anticipation, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/s100480050036","doi":"https://doi.org/10.1007/s100480050036","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s100480050036","pdf_url":null,"source":{"id":"https://openalex.org/S185726200","display_name":"Neurogenetics","issn_l":"1364-6745","issn":["1364-6745","1364-6753"],"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-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"neurogenetics","raw_type":"journal-article"},{"id":"pmid:10732798","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10732798","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":"Neurogenetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8371999859809875,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[{"id":"https://openalex.org/G6225060080","display_name":"MCSDPA--NEUROGERONTOLOGY","funder_award_id":"K12AG000521","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G6514802246","display_name":null,"funder_award_id":"R37 GM37645","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"}],"funders":[{"id":"https://openalex.org/F4320306725","display_name":"Hereditary Disease Foundation","ror":"https://ror.org/02a3w7r50"},{"id":"https://openalex.org/F4320309370","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10"},{"id":"https://openalex.org/F4320337337","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":10,"referenced_works":["https://openalex.org/W1966489527","https://openalex.org/W2028930693","https://openalex.org/W2029703348","https://openalex.org/W2059827921","https://openalex.org/W2081110898","https://openalex.org/W2096203306","https://openalex.org/W2111714299","https://openalex.org/W2113333419","https://openalex.org/W2125492442","https://openalex.org/W2138167972"],"related_works":["https://openalex.org/W2090348760","https://openalex.org/W2081110898","https://openalex.org/W2003751998","https://openalex.org/W2096203306","https://openalex.org/W7009566249","https://openalex.org/W7099479992","https://openalex.org/W2068813824","https://openalex.org/W2138964805","https://openalex.org/W2072604924","https://openalex.org/W2160764898"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2016-06-24T00:00:00"}
