{"id":"https://openalex.org/W408505","doi":"https://doi.org/10.1023/a:1022685929755","title":"Mitochondrial DNA Mutations and Pathogenesis","display_name":"Mitochondrial DNA Mutations and Pathogenesis","publication_year":1997,"publication_date":"1997-04-01","ids":{"openalex":"https://openalex.org/W408505","doi":"https://doi.org/10.1023/a:1022685929755","mag":"408505","pmid":"https://pubmed.ncbi.nlm.nih.gov/9239539"},"language":"en","primary_location":{"id":"doi:10.1023/a:1022685929755","doi":"https://doi.org/10.1023/a:1022685929755","is_oa":false,"landing_page_url":"https://doi.org/10.1023/a:1022685929755","pdf_url":null,"source":{"id":"https://openalex.org/S105581463","display_name":"Journal of Bioenergetics and Biomembranes","issn_l":"0145-479X","issn":["0145-479X","1573-6881"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"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":"Journal of Bioenergetics and Biomembranes","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W408505"],"child_works_count":0,"type":"review","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/A5108554998","display_name":"Eric A. Schon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eric A. Schon","raw_affiliation_strings":["Department of Neurology, Columbia University, New York, New York 10032, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Columbia University, New York, New York 10032, USA","institution_ids":["https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111529859","display_name":"Eduardo Bonilla","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eduardo Bonilla","raw_affiliation_strings":["Departments of Neurology, Columbia University, New York"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Neurology, Columbia University, New York","institution_ids":["https://openalex.org/I78577930"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5105414491","display_name":"Salvatore DiMauro","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Salvatore DiMauro","raw_affiliation_strings":["Departments of Neurology, Columbia University, New York"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Neurology, Columbia University, New York","institution_ids":["https://openalex.org/I78577930"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I78577930"],"apc_list":{"value":3790,"currency":"USD","value_usd":3790},"apc_paid":null,"fwci":2.8012,"has_fulltext":false,"cited_by_count":424,"citation_normalized_percentile":{"value":0.93933824,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":93,"max":100},"biblio":{"volume":"29","issue":"2","first_page":"131","last_page":"149"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9990000128746033,"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":0.9990000128746033,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/T12331","display_name":"Hereditary Neurological Disorders","score":9.999999747378752e-05,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/mtdna-mutations","display_name":"mitochondrial DNA mutations","score":0.8989999890327454},{"id":"https://openalex.org/keywords/mitochondrial-encephalomyopathy","display_name":"mitochondrial encephalomyopathy","score":0.8619999885559082},{"id":"https://openalex.org/keywords/pathogenesis","display_name":"pathogenesis","score":0.6980000138282776},{"id":"https://openalex.org/keywords/point-mutations","display_name":"point mutations","score":0.6919999718666077},{"id":"https://openalex.org/keywords/mitochondrial-dna-defects","display_name":"mitochondrial DNA defects","score":0.4059999883174896}],"concepts":[{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.8882379531860352},{"id":"https://openalex.org/C2910199120","wikidata":"https://www.wikidata.org/wiki/Q935710","display_name":"Mitochondrial Encephalomyopathies","level":5,"score":0.8123406171798706},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7400453686714172},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6745918393135071},{"id":"https://openalex.org/C176944494","wikidata":"https://www.wikidata.org/wiki/Q1415380","display_name":"Point mutation","level":4,"score":0.6646072864532471},{"id":"https://openalex.org/C2780942790","wikidata":"https://www.wikidata.org/wiki/Q372016","display_name":"Pathogenesis","level":2,"score":0.6177545189857483},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.49280741810798645},{"id":"https://openalex.org/C151994961","wikidata":"https://www.wikidata.org/wiki/Q715263","display_name":"Human mitochondrial genetics","level":4,"score":0.4743196666240692},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3891998529434204},{"id":"https://openalex.org/C2775833069","wikidata":"https://www.wikidata.org/wiki/Q6881881","display_name":"Mitochondrial myopathy","level":4,"score":0.20262446999549866},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.09162268042564392}],"mesh":[{"descriptor_ui":"D003638","descriptor_name":"Deafness","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003920","descriptor_name":"Diabetes Mellitus","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015321","descriptor_name":"Gene Rearrangement","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015418","descriptor_name":"Optic Atrophies, Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017241","descriptor_name":"MELAS Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017243","descriptor_name":"MERRF Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017246","descriptor_name":"Ophthalmoplegia, Chronic Progressive External","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1023/a:1022685929755","doi":"https://doi.org/10.1023/a:1022685929755","is_oa":false,"landing_page_url":"https://doi.org/10.1023/a:1022685929755","pdf_url":null,"source":{"id":"https://openalex.org/S105581463","display_name":"Journal of Bioenergetics and Biomembranes","issn_l":"0145-479X","issn":["0145-479X","1573-6881"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"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":"Journal of Bioenergetics and Biomembranes","raw_type":"journal-article"},{"id":"pmid:9239539","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9239539","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 bioenergetics and biomembranes","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G137493147","display_name":null,"funder_award_id":"NS-11766","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G5599215711","display_name":"MITOCHONDRIAL DNA REARRANGEMENT IN NEUROMUSCULAR DISEASE","funder_award_id":"R01NS028828","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G6420251400","display_name":"MITOCHONDRIAL DNA MUTATIONS AND HUMAN AGING","funder_award_id":"R01AG012131","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337337","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":187,"referenced_works":["https://openalex.org/W6867406","https://openalex.org/W42729080","https://openalex.org/W68132497","https://openalex.org/W87841942","https://openalex.org/W130095455","https://openalex.org/W156973726","https://openalex.org/W166059795","https://openalex.org/W170810394","https://openalex.org/W1483634883","https://openalex.org/W1490199160","https://openalex.org/W1492916134","https://openalex.org/W1511178211","https://openalex.org/W1519784740","https://openalex.org/W1523170123","https://openalex.org/W1538214352","https://openalex.org/W1539549165","https://openalex.org/W1551036491","https://openalex.org/W1556673174","https://openalex.org/W1572288887","https://openalex.org/W1592690611","https://openalex.org/W1593732853","https://openalex.org/W1599856345","https://openalex.org/W1744896556","https://openalex.org/W1790985176","https://openalex.org/W1827229008","https://openalex.org/W1849159432","https://openalex.org/W1877954338","https://openalex.org/W1908757304","https://openalex.org/W1925814110","https://openalex.org/W1965389439","https://openalex.org/W1968493182","https://openalex.org/W1968622987","https://openalex.org/W1969269930","https://openalex.org/W1969717978","https://openalex.org/W1970345057","https://openalex.org/W1970693337","https://openalex.org/W1972925152","https://openalex.org/W1972942671","https://openalex.org/W1972983441","https://openalex.org/W1973844953","https://openalex.org/W1973927710","https://openalex.org/W1975355546","https://openalex.org/W1979730424","https://openalex.org/W1980681204","https://openalex.org/W1982348732","https://openalex.org/W1983168769","https://openalex.org/W1986356700","https://openalex.org/W1988276497","https://openalex.org/W1991160902","https://openalex.org/W1991568505","https://openalex.org/W1991860010","https://openalex.org/W1991896253","https://openalex.org/W1992307061","https://openalex.org/W1994165455","https://openalex.org/W1994982358","https://openalex.org/W1995169649","https://openalex.org/W1997116394","https://openalex.org/W1998078998","https://openalex.org/W1998916359","https://openalex.org/W2000610554","https://openalex.org/W2000904961","https://openalex.org/W2002109630","https://openalex.org/W2003490031","https://openalex.org/W2003931544","https://openalex.org/W2007122274","https://openalex.org/W2009038239","https://openalex.org/W2009128700","https://openalex.org/W2010328533","https://openalex.org/W2010943452","https://openalex.org/W2012102114","https://openalex.org/W2012438556","https://openalex.org/W2013060025","https://openalex.org/W2016196103","https://openalex.org/W2017347785","https://openalex.org/W2018334906","https://openalex.org/W2020124142","https://openalex.org/W2021674095","https://openalex.org/W2022257660","https://openalex.org/W2023629731","https://openalex.org/W2023888590","https://openalex.org/W2026384309","https://openalex.org/W2026408975","https://openalex.org/W2026901073","https://openalex.org/W2026932947","https://openalex.org/W2027909374","https://openalex.org/W2028428630","https://openalex.org/W2028856723","https://openalex.org/W2029597421","https://openalex.org/W2029849020","https://openalex.org/W2029855582","https://openalex.org/W2031843569","https://openalex.org/W2032628875","https://openalex.org/W2033247533","https://openalex.org/W2033472303","https://openalex.org/W2033743648","https://openalex.org/W2033855909","https://openalex.org/W2034146663","https://openalex.org/W2034369428","https://openalex.org/W2035257545","https://openalex.org/W2037204981","https://openalex.org/W2040464479","https://openalex.org/W2041285746","https://openalex.org/W2041894106","https://openalex.org/W2043779724","https://openalex.org/W2044711106","https://openalex.org/W2045254914","https://openalex.org/W2045409504","https://openalex.org/W2046226207","https://openalex.org/W2047034700","https://openalex.org/W2047176277","https://openalex.org/W2048819314","https://openalex.org/W2049948858","https://openalex.org/W2052526312","https://openalex.org/W2053061653","https://openalex.org/W2053374225","https://openalex.org/W2056643778","https://openalex.org/W2056712045","https://openalex.org/W2057153138","https://openalex.org/W2057613976","https://openalex.org/W2059366382","https://openalex.org/W2060514152","https://openalex.org/W2062211417","https://openalex.org/W2063123584","https://openalex.org/W2066250257","https://openalex.org/W2066861239","https://openalex.org/W2069137068","https://openalex.org/W2074285755","https://openalex.org/W2075824246","https://openalex.org/W2077414996","https://openalex.org/W2078479092","https://openalex.org/W2079752160","https://openalex.org/W2080711087","https://openalex.org/W2081832486","https://openalex.org/W2082300230","https://openalex.org/W2087281836","https://openalex.org/W2088531219","https://openalex.org/W2090574322","https://openalex.org/W2090805983","https://openalex.org/W2091944864","https://openalex.org/W2092910502","https://openalex.org/W2093841694","https://openalex.org/W2095058526","https://openalex.org/W2095251357","https://openalex.org/W2095256063","https://openalex.org/W2100704541","https://openalex.org/W2101395123","https://openalex.org/W2101649826","https://openalex.org/W2103804977","https://openalex.org/W2104018711","https://openalex.org/W2105350439","https://openalex.org/W2106765156","https://openalex.org/W2107286529","https://openalex.org/W2109291482","https://openalex.org/W2111090535","https://openalex.org/W2114201525","https://openalex.org/W2115765138","https://openalex.org/W2115975835","https://openalex.org/W2116816578","https://openalex.org/W2123723637","https://openalex.org/W2124755022","https://openalex.org/W2127001527","https://openalex.org/W2130295377","https://openalex.org/W2132726974","https://openalex.org/W2135980127","https://openalex.org/W2137675911","https://openalex.org/W2142694005","https://openalex.org/W2145482520","https://openalex.org/W2145631189","https://openalex.org/W2152832510","https://openalex.org/W2153688771","https://openalex.org/W2155113724","https://openalex.org/W2158414980","https://openalex.org/W2160943807","https://openalex.org/W2162973898","https://openalex.org/W2163177489","https://openalex.org/W2167673850","https://openalex.org/W2167974473","https://openalex.org/W2167981935","https://openalex.org/W2177292228","https://openalex.org/W2301631616","https://openalex.org/W2328596111","https://openalex.org/W2414887967","https://openalex.org/W2463405250","https://openalex.org/W3093453526","https://openalex.org/W4213329868","https://openalex.org/W4243977051","https://openalex.org/W4254119740"],"related_works":["https://openalex.org/W2057153138","https://openalex.org/W2036499126","https://openalex.org/W2028997150","https://openalex.org/W1966691625","https://openalex.org/W2062840593","https://openalex.org/W4236038577","https://openalex.org/W2026021899","https://openalex.org/W2053080133","https://openalex.org/W2078991180","https://openalex.org/W2994477407"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":7},{"year":2016,"cited_by_count":9},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":6},{"year":2013,"cited_by_count":8},{"year":2012,"cited_by_count":15}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2016-06-24T00:00:00"}