{"id":"https://openalex.org/W2042942471","doi":"https://doi.org/10.1002/(sici)1096-8628(19960122)61:3<283::aid-ajmg15>3.0.co;2-p","title":"Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients","display_name":"Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients","publication_year":1996,"publication_date":"1996-01-22","ids":{"openalex":"https://openalex.org/W2042942471","doi":"https://doi.org/10.1002/(sici)1096-8628(19960122)61:3<283::aid-ajmg15>3.0.co;2-p","mag":"2042942471","pmid":"https://pubmed.ncbi.nlm.nih.gov/8741876"},"language":"en","primary_location":{"id":"doi:10.1002/(sici)1096-8628(19960122)61:3<283::aid-ajmg15>3.0.co;2-p","doi":"https://doi.org/10.1002/(sici)1096-8628(19960122)61:3<283::aid-ajmg15>3.0.co;2-p","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(19960122)61:3<283::aid-ajmg15>3.0.co;2-p","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics","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":null,"display_name":"Michael D. Brown","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael D. Brown","raw_affiliation_strings":["Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322, USA","Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322, USA","institution_ids":["https://openalex.org/I150468666"]},{"raw_affiliation_string":"Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia","institution_ids":["https://openalex.org/I150468666"]}]},{"author_position":"middle","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":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John M. Shoffner","raw_affiliation_strings":["Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia","institution_ids":["https://openalex.org/I150468666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082545160","display_name":"Yoon L. Kim","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yoon L. Kim","raw_affiliation_strings":["Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia","institution_ids":["https://openalex.org/I150468666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112033380","display_name":"Albert S. Jun","orcid":"https://orcid.org/0000-0001-8650-2279","observed_orcids":["https://orcid.org/0000-0001-8650-2279"]},"institutions":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Albert S. Jun","raw_affiliation_strings":["Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia","institution_ids":["https://openalex.org/I150468666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020762254","display_name":"Brett H. Graham","orcid":"https://orcid.org/0000-0001-8451-8154","observed_orcids":["https://orcid.org/0000-0001-8451-8154"]},"institutions":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Brett H. Graham","raw_affiliation_strings":["Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia","institution_ids":["https://openalex.org/I150468666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042754600","display_name":"Margaret F. Cabell","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Margaret F. Cabell","raw_affiliation_strings":["Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia","institution_ids":["https://openalex.org/I150468666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025069045","display_name":"Daniel S. Gurley","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Daniel S. Gurley","raw_affiliation_strings":["Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia","institution_ids":["https://openalex.org/I150468666"]}]},{"author_position":"last","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":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Douglas C. Wallace","raw_affiliation_strings":["Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia","institution_ids":["https://openalex.org/I150468666"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5085274471"],"corresponding_institution_ids":["https://openalex.org/I150468666"],"apc_list":null,"apc_paid":null,"fwci":1.7939,"has_fulltext":false,"cited_by_count":99,"citation_normalized_percentile":{"value":0.85334171,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"61","issue":"3","first_page":"283","last_page":"289"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.8374000191688538,"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":0.8374000191688538,"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/T10086","display_name":"Alzheimer's disease research and treatments","score":0.10509999841451645,"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/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":0.03610000014305115,"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/mitochondrial-dna","display_name":"mitochondrial DNA","score":0.9079999923706055},{"id":"https://openalex.org/keywords/alzheimer-s-disease","display_name":"Alzheimer's disease","score":0.9890000224113464},{"id":"https://openalex.org/keywords/parkinson-s-disease","display_name":"Parkinson's disease","score":1.0},{"id":"https://openalex.org/keywords/mitochondrial-mutations","display_name":"mitochondrial mutations","score":0.46000000834465027},{"id":"https://openalex.org/keywords/12s-rrna","display_name":"12S rRNA","score":0.9350000023841858},{"id":"https://openalex.org/keywords/nd1-gene","display_name":"ND1 gene","score":0.8360000252723694},{"id":"https://openalex.org/keywords/nd5-gene","display_name":"ND5 gene","score":0.9819999933242798},{"id":"https://openalex.org/keywords/16s-rrna-gene","display_name":"16S rRNA gene","score":0.9120000004768372},{"id":"https://openalex.org/keywords/cytochrome-b","display_name":"cytochrome b","score":0.8220000267028809},{"id":"https://openalex.org/keywords/leber-hereditary-optic-neuropathy","display_name":"Leber's hereditary optic neuropathy","score":0.9259999990463257},{"id":"https://openalex.org/keywords/neurodegenerative-diseases","display_name":"neurodegenerative diseases","score":0.6600000262260437}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7079359889030457},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.632844090461731},{"id":"https://openalex.org/C194232998","wikidata":"https://www.wikidata.org/wiki/Q1606712","display_name":"Transition (genetics)","level":3,"score":0.6276102662086487},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.5943616032600403},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5707640647888184},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5272746682167053},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4672657549381256},{"id":"https://openalex.org/C2780130745","wikidata":"https://www.wikidata.org/wiki/Q1650750","display_name":"Neuropathology","level":3,"score":0.4395356774330139},{"id":"https://openalex.org/C185581394","wikidata":"https://www.wikidata.org/wiki/Q145911","display_name":"Base pair","level":3,"score":0.41766923666000366},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.3556691110134125},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.25297850370407104},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2263609766960144},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.09761539101600647}],"mesh":[{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1002/(sici)1096-8628(19960122)61:3<283::aid-ajmg15>3.0.co;2-p","doi":"https://doi.org/10.1002/(sici)1096-8628(19960122)61:3<283::aid-ajmg15>3.0.co;2-p","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(19960122)61:3<283::aid-ajmg15>3.0.co;2-p","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics","raw_type":"journal-article"},{"id":"doi:10.1002/(sici)1096-8628(19960122)61:3<283::aid-ajmg15>3.3.co;2-d","doi":"https://doi.org/10.1002/(sici)1096-8628(19960122)61:3<283::aid-ajmg15>3.3.co;2-d","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(19960122)61:3<283::aid-ajmg15>3.3.co;2-d","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:8741876","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8741876","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":"American journal of medical genetics","raw_type":"Comparative Study"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.979200005531311}],"study_designs":[],"awards":[{"id":"https://openalex.org/G460301713","display_name":null,"funder_award_id":"AG101309","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G6828539183","display_name":"Mitochondrial Inborn Errors in Metabolism","funder_award_id":"R01NS021328","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"}],"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":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":65,"referenced_works":["https://openalex.org/W1493371020","https://openalex.org/W1497179990","https://openalex.org/W1499722891","https://openalex.org/W1579208223","https://openalex.org/W1592690611","https://openalex.org/W1842375801","https://openalex.org/W1884672048","https://openalex.org/W1925814110","https://openalex.org/W1926342884","https://openalex.org/W1967036214","https://openalex.org/W1972542632","https://openalex.org/W1976103627","https://openalex.org/W1978675778","https://openalex.org/W1980681204","https://openalex.org/W1981039973","https://openalex.org/W1986598388","https://openalex.org/W1987462314","https://openalex.org/W1988731658","https://openalex.org/W1991192746","https://openalex.org/W1999343631","https://openalex.org/W2001253835","https://openalex.org/W2004437670","https://openalex.org/W2005045122","https://openalex.org/W2016905315","https://openalex.org/W2017347785","https://openalex.org/W2017592329","https://openalex.org/W2017991311","https://openalex.org/W2020460543","https://openalex.org/W2021181758","https://openalex.org/W2021674095","https://openalex.org/W2022164794","https://openalex.org/W2025130486","https://openalex.org/W2026674234","https://openalex.org/W2039802914","https://openalex.org/W2040753345","https://openalex.org/W2054556973","https://openalex.org/W2055308573","https://openalex.org/W2057514401","https://openalex.org/W2059718548","https://openalex.org/W2062251719","https://openalex.org/W2063575568","https://openalex.org/W2064231332","https://openalex.org/W2064781254","https://openalex.org/W2068568687","https://openalex.org/W2073806885","https://openalex.org/W2080904974","https://openalex.org/W2081249304","https://openalex.org/W2085311458","https://openalex.org/W2086245313","https://openalex.org/W2089870793","https://openalex.org/W2090390963","https://openalex.org/W2095242498","https://openalex.org/W2104018711","https://openalex.org/W2105532685","https://openalex.org/W2108272863","https://openalex.org/W2109291482","https://openalex.org/W2135792486","https://openalex.org/W2136372119","https://openalex.org/W2152284208","https://openalex.org/W2159479663","https://openalex.org/W2162973898","https://openalex.org/W2167974473","https://openalex.org/W2237122321","https://openalex.org/W2411164166","https://openalex.org/W4253946794"],"related_works":["https://openalex.org/W1978675778","https://openalex.org/W1980324171","https://openalex.org/W2939435970","https://openalex.org/W2039233370","https://openalex.org/W191055505","https://openalex.org/W2032618857","https://openalex.org/W2122730881","https://openalex.org/W2001663786","https://openalex.org/W1902065689","https://openalex.org/W2071406809"],"abstract_inverted_index":{"The":[0],"mitochondrial":[1],"DNA":[2],"(mtDNA)":[3],"sequence":[4,36],"was":[5,89],"determined":[6],"on":[7],"3":[8],"patients":[9,73,95,145],"with":[10,25],"Alzheimer's":[11],"disease":[12,18],"(AD)":[13],"exhibiting":[14],"AD":[15],"plus":[16],"Parkinson's":[17],"(PD)":[19],"neuropathologic":[20],"changes":[21],"and":[22,77,154,185],"one":[23],"patient":[24],"PD.":[26],"Patient":[27],"mtDNA":[28],"sequences":[29],"were":[30,107,146,170],"compared":[31],"to":[32,37,54,123,200],"the":[33,42,48,55,64,84,100,115,127,160,164,181,192],"standard":[34],"Cambridge":[35],"identify":[38],"base":[39,133,174,207],"changes.":[40],"In":[41,99,126],"first":[43],"AD+PD":[44,102,129],"patient,":[45,103,130,166],"2":[46,131,167],"of":[47],"15":[49],"nucleotide":[50,58,105],"substitutions":[51,106,134,208],"may":[52],"contribute":[53],"neuropathology,":[56],"a":[57,78,120,124,202],"pair":[59],"(np)":[60],"4336":[61],"transition":[62,82,113,151,158],"in":[63,72,75,83,92,114,140,152,159,180,191,209],"tRNA(Gln)":[65],"gene":[66,87,117,184],"found":[67,91,136],"7.4":[68],"times":[69],"more":[70],"frequently":[71,135],"than":[74],"controls,":[76],"unique":[79],"np":[80,111,149,156,177,187],"721":[81],"12S":[85],"rRNA":[86,183],"which":[88,118],"not":[90],"70":[93],"other":[94],"or":[96],"905":[97],"controls.":[98],"second":[101],"27":[104],"detected,":[108],"including":[109],"an":[110,148,155,176,186],"3397":[112],"ND1":[116,153],"converts":[119],"conserved":[121],"methionine":[122],"valine.":[125],"third":[128],"polymorphic":[132],"at":[137],"increased":[138],"frequency":[139],"Leber's":[141],"hereditary":[142],"optic":[143],"neuropathy":[144],"observed,":[147],"4216":[150],"13708":[157],"ND5":[161],"gene.":[162,194],"For":[163],"PD":[165],"novel":[168],"variants":[169],"observed":[171],"among":[172],"25":[173],"substitutions,":[175],"1709":[178],"substitution":[179],"16S":[182],"15851":[188],"missense":[189],"mutation":[190],"cytb":[193],"Further":[195],"studies":[196],"will":[197],"be":[198],"required":[199],"demonstrate":[201],"causal":[203],"role":[204],"for":[205],"these":[206],"neurodegenerative":[210],"disease.":[211]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}