{"id":"https://openalex.org/W2035599992","doi":"https://doi.org/10.1016/s0753-3322(97)87079-5","title":"Friedreich ataxia is caused by an intronic gaa triplet repeat expansion","display_name":"Friedreich ataxia is caused by an intronic gaa triplet repeat expansion","publication_year":1997,"publication_date":"1997-01-01","ids":{"openalex":"https://openalex.org/W2035599992","doi":"https://doi.org/10.1016/s0753-3322(97)87079-5","mag":"2035599992"},"language":"en","primary_location":{"id":"doi:10.1016/s0753-3322(97)87079-5","doi":"https://doi.org/10.1016/s0753-3322(97)87079-5","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0753-3322(97)87079-5","pdf_url":null,"source":{"id":"https://openalex.org/S15111687","display_name":"Biomedicine & Pharmacotherapy","issn_l":"0753-3322","issn":["0753-3322","1950-6007"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","jufo-2","ki-jl-1","medline","poland-100","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":"Biomedicine & Pharmacotherapy","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"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/A5080418392","display_name":"Massimo Pandolfo","orcid":"https://orcid.org/0000-0001-5230-5787","observed_orcids":["https://orcid.org/0000-0001-5230-5787"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"M Pandolfo","raw_affiliation_strings":["Baylor College of Medicine, Houston, TX, 77030, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Baylor College of Medicine, Houston, TX, 77030, USA","institution_ids":["https://openalex.org/I181547552"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5080418392"],"corresponding_institution_ids":["https://openalex.org/I181547552"],"apc_list":{"value":3610,"currency":"USD","value_usd":3610},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.10579167,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"51","issue":"1","first_page":"44","last_page":"44"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9369999766349792,"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":0.9369999766349792,"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/T10878","display_name":"CRISPR and Genetic Engineering","score":0.014600000344216824,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.005100000184029341,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/friedreich-ataxia","display_name":"Friedreich's ataxia","score":1.0},{"id":"https://openalex.org/keywords/gaa-triplet-repeat-expansion","display_name":"GAA triplet repeat expansion","score":0.8230000138282776},{"id":"https://openalex.org/keywords/intronic-repeat-expansion","display_name":"intronic repeat expansion","score":0.8270000219345093},{"id":"https://openalex.org/keywords/frataxin","display_name":"frataxin","score":0.9480000138282776},{"id":"https://openalex.org/keywords/haploinsufficiency","display_name":"haploinsufficiency","score":0.8519999980926514},{"id":"https://openalex.org/keywords/transcription-activation-domain","display_name":"transcription activation domain","score":0.8510000109672546},{"id":"https://openalex.org/keywords/promoter-targeting","display_name":"promoter targeting","score":0.5450000166893005},{"id":"https://openalex.org/keywords/gene-therapy","display_name":"gene therapy","score":0.6010000109672546},{"id":"https://openalex.org/keywords/decitabine","display_name":"decitabine","score":0.9169999957084656},{"id":"https://openalex.org/keywords/valproic-acid","display_name":"valproic acid","score":0.9169999957084656},{"id":"https://openalex.org/keywords/fibroblasts","display_name":"fibroblasts","score":0.8510000109672546}],"concepts":[{"id":"https://openalex.org/C2779314966","wikidata":"https://www.wikidata.org/wiki/Q409999","display_name":"Frataxin","level":4,"score":0.9749189615249634},{"id":"https://openalex.org/C68838962","wikidata":"https://www.wikidata.org/wiki/Q852654","display_name":"Haploinsufficiency","level":4,"score":0.7891627550125122},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.6114934086799622},{"id":"https://openalex.org/C2778106681","wikidata":"https://www.wikidata.org/wiki/Q416095","display_name":"MyoD","level":4,"score":0.5695101618766785},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5500553250312805},{"id":"https://openalex.org/C179926584","wikidata":"https://www.wikidata.org/wiki/Q207714","display_name":"Transcription (linguistics)","level":2,"score":0.5352001786231995},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4798581004142761},{"id":"https://openalex.org/C166252455","wikidata":"https://www.wikidata.org/wiki/Q6736610","display_name":"Trinucleotide repeat expansion","level":4,"score":0.4673517048358917},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.41895249485969543},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.3832927346229553},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.36651867628097534},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.32094806432724},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2287786900997162},{"id":"https://openalex.org/C2779369046","wikidata":"https://www.wikidata.org/wiki/Q6072234","display_name":"Iron-binding proteins","level":3,"score":0.1408182978630066},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.10275894403457642},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.06893658638000488},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0},{"id":"https://openalex.org/C41895202","wikidata":"https://www.wikidata.org/wiki/Q8162","display_name":"Linguistics","level":1,"score":0.0},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/s0753-3322(97)87079-5","doi":"https://doi.org/10.1016/s0753-3322(97)87079-5","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0753-3322(97)87079-5","pdf_url":null,"source":{"id":"https://openalex.org/S15111687","display_name":"Biomedicine & Pharmacotherapy","issn_l":"0753-3322","issn":["0753-3322","1950-6007"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","jufo-2","ki-jl-1","medline","poland-100","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":"Biomedicine & Pharmacotherapy","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1973717479","https://openalex.org/W1978252617","https://openalex.org/W2089510176","https://openalex.org/W2566623531","https://openalex.org/W2144201007","https://openalex.org/W2765605482","https://openalex.org/W1995746317","https://openalex.org/W2045617609","https://openalex.org/W2936330483","https://openalex.org/W1973031414"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2016-06-24T00:00:00"}