{"id":"https://openalex.org/W4242044155","doi":"https://doi.org/10.1097/00007611-199109001-00139","title":"MYOCLONIC EPILEPSY AND RAGGED-RED FIBER DISEASE (MERRF) IS CAUSED BY A MITOCHONDRIAL tRNALYS POINT MUTATION AND RESPONDS TO COENZYME Q10 (COQ) THERAPY","display_name":"MYOCLONIC EPILEPSY AND RAGGED-RED FIBER DISEASE (MERRF) IS CAUSED BY A MITOCHONDRIAL tRNALYS POINT MUTATION AND RESPONDS TO COENZYME Q10 (COQ) THERAPY","publication_year":1991,"publication_date":"1991-09-01","ids":{"openalex":"https://openalex.org/W4242044155","doi":"https://doi.org/10.1097/00007611-199109001-00139"},"language":"en","primary_location":{"id":"doi:10.1097/00007611-199109001-00139","doi":"https://doi.org/10.1097/00007611-199109001-00139","is_oa":false,"landing_page_url":"https://doi.org/10.1097/00007611-199109001-00139","pdf_url":null,"source":{"id":"https://openalex.org/S89143414","display_name":"Southern Medical Journal","issn_l":"0038-4348","issn":["0038-4348","1541-8243"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-2"],"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":"Southern Medical Journal","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","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/A5035073907","display_name":"John M. Shoffner","orcid":"https://orcid.org/0000-0002-2820-6807","observed_orcids":["https://orcid.org/0000-0002-2820-6807"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"John M. Shoffner","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085274471","display_name":"Douglas C. Wallace","orcid":"https://orcid.org/0000-0002-7480-8278","observed_orcids":["https://orcid.org/0000-0002-7480-8278"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Douglas C. Wallace","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5009824055","display_name":"Linton C. Hopkins","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Linton C. Hopkins","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":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"84","issue":"Supplement","first_page":"40","last_page":"40"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9423999786376953,"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"}},"topics":[{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9423999786376953,"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/T13012","display_name":"Coenzyme Q10 studies and effects","score":0.03319999948143959,"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/T10094","display_name":"Epilepsy research and treatment","score":0.007400000002235174,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/myoclonic-epilepsy-with-ragged-red-fibers","display_name":"myoclonic epilepsy with ragged-red fibers","score":0.8859999775886536},{"id":"https://openalex.org/keywords/merrf","display_name":"MERRF","score":0.9739999771118164},{"id":"https://openalex.org/keywords/mitochondrial-dna","display_name":"mitochondrial DNA","score":0.7310000061988831},{"id":"https://openalex.org/keywords/coenzyme-q10","display_name":"coenzyme Q10","score":0.8799999952316284},{"id":"https://openalex.org/keywords/gene-therapy","display_name":"gene therapy","score":0.5550000071525574},{"id":"https://openalex.org/keywords/mitochondrial-disease","display_name":"mitochondrial disease","score":0.8069999814033508}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8423563838005066},{"id":"https://openalex.org/C2779384338","wikidata":"https://www.wikidata.org/wiki/Q321285","display_name":"Coenzyme Q10","level":2,"score":0.8335956931114197},{"id":"https://openalex.org/C2775859823","wikidata":"https://www.wikidata.org/wiki/Q11883686","display_name":"Myoclonic epilepsy","level":3,"score":0.6892073750495911},{"id":"https://openalex.org/C2777614518","wikidata":"https://www.wikidata.org/wiki/Q935710","display_name":"Mitochondrial disease","level":4,"score":0.6350533962249756},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.508927583694458},{"id":"https://openalex.org/C2779799828","wikidata":"https://www.wikidata.org/wiki/Q6881866","display_name":"Mitochondrial encephalomyopathy","level":4,"score":0.49118635058403015},{"id":"https://openalex.org/C176944494","wikidata":"https://www.wikidata.org/wiki/Q1415380","display_name":"Point mutation","level":4,"score":0.4818195402622223},{"id":"https://openalex.org/C14471203","wikidata":"https://www.wikidata.org/wiki/Q412832","display_name":"Coenzyme Q \u2013 cytochrome c reductase","level":4,"score":0.4143562912940979},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.32820385694503784},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.24899151921272278},{"id":"https://openalex.org/C28859421","wikidata":"https://www.wikidata.org/wiki/Q39572","display_name":"Mitochondrion","level":2,"score":0.24068433046340942},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.17811262607574463},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.13168960809707642},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.11333659291267395},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0669335424900055},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.047248005867004395},{"id":"https://openalex.org/C29311851","wikidata":"https://www.wikidata.org/wiki/Q408223","display_name":"Cytochrome c","level":3,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1097/00007611-199109001-00139","doi":"https://doi.org/10.1097/00007611-199109001-00139","is_oa":false,"landing_page_url":"https://doi.org/10.1097/00007611-199109001-00139","pdf_url":null,"source":{"id":"https://openalex.org/S89143414","display_name":"Southern Medical Journal","issn_l":"0038-4348","issn":["0038-4348","1541-8243"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-2"],"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":"Southern Medical Journal","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9476000070571899}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W7058267409","https://openalex.org/W2398969238","https://openalex.org/W2942975275","https://openalex.org/W1995764068","https://openalex.org/W1191707220","https://openalex.org/W2409757304","https://openalex.org/W2350590884","https://openalex.org/W6987667875","https://openalex.org/W2264573623","https://openalex.org/W2419004725"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-07-14T23:27:15.235271","created_date":"2022-05-12T00:00:00"}
