{"id":"https://openalex.org/W2000875498","doi":"https://doi.org/10.1136/jmg.2004.020537","title":"Mutations of the mitochondrial ND1 gene as a cause of MELAS","display_name":"Mutations of the mitochondrial ND1 gene as a cause of MELAS","publication_year":2004,"publication_date":"2004-10-01","ids":{"openalex":"https://openalex.org/W2000875498","doi":"https://doi.org/10.1136/jmg.2004.020537","mag":"2000875498","pmid":"https://pubmed.ncbi.nlm.nih.gov/15466014","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1735602"},"language":"en","primary_location":{"id":"doi:10.1136/jmg.2004.020537","doi":"https://doi.org/10.1136/jmg.2004.020537","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.2004.020537","pdf_url":"https://jmg.bmj.com/content/jmedgenet/41/10/784.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W2000875498"],"child_works_count":0,"type":"article","is_traditional":true,"indexed_in":["crossref","datacite","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://jmg.bmj.com/content/jmedgenet/41/10/784.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5003009348","display_name":"Denise M. Kirby","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1321649718","display_name":"Royal Children's Hospital","ror":"https://ror.org/02rktxt32","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1321649718"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"D M Kirby","raw_affiliation_strings":["Department of Paediatrics, University of Melbourne, Australia","Genetic Health Services Victoria, Royal Children\u2019s Hospital, Melbourne, Australia","Murdoch Childrens Research Institute, Royal Children\u2019s Hospital, Melbourne, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, University of Melbourne, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Genetic Health Services Victoria, Royal Children\u2019s Hospital, Melbourne, Australia","institution_ids":["https://openalex.org/I1321649718"]},{"raw_affiliation_string":"Murdoch Childrens Research Institute, Royal Children\u2019s Hospital, Melbourne, Australia","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053767923","display_name":"Robert McFarland","orcid":"https://orcid.org/0000-0002-8833-2688","observed_orcids":["https://orcid.org/0000-0002-8833-2688"]},"institutions":[{"id":"https://openalex.org/I84884186","display_name":"Newcastle University","ror":"https://ror.org/01kj2bm70","country_code":"GB","type":"education","lineage":["https://openalex.org/I84884186"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"R McFarland","raw_affiliation_strings":["Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, University of Newcastle upon Tyne, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, University of Newcastle upon Tyne, UK","institution_ids":["https://openalex.org/I84884186"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028322843","display_name":"Akira Ohtake","orcid":"https://orcid.org/0000-0003-1147-3113","observed_orcids":["https://orcid.org/0000-0003-1147-3113"]},"institutions":[{"id":"https://openalex.org/I196829312","display_name":"La Trobe University","ror":"https://ror.org/01rxfrp27","country_code":"AU","type":"education","lineage":["https://openalex.org/I196829312"]},{"id":"https://openalex.org/I8588240","display_name":"Saitama Medical University","ror":"https://ror.org/04zb31v77","country_code":"JP","type":"education","lineage":["https://openalex.org/I8588240"]}],"countries":["AU","JP"],"is_corresponding":false,"raw_author_name":"A Ohtake","raw_affiliation_strings":["Department of Biochemistry, La Trobe University, Melbourne, Australia","Department of Paediatrics, Saitama Medical School, Moroyama, Saitama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry, La Trobe University, Melbourne, Australia","institution_ids":["https://openalex.org/I196829312"]},{"raw_affiliation_string":"Department of Paediatrics, Saitama Medical School, Moroyama, Saitama, Japan","institution_ids":["https://openalex.org/I8588240"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007931545","display_name":"Christopher J.R. Dunning","orcid":"https://orcid.org/0000-0002-2101-030X","observed_orcids":["https://orcid.org/0000-0002-2101-030X"]},"institutions":[{"id":"https://openalex.org/I196829312","display_name":"La Trobe University","ror":"https://ror.org/01rxfrp27","country_code":"AU","type":"education","lineage":["https://openalex.org/I196829312"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"C Dunning","raw_affiliation_strings":["Department of Biochemistry, La Trobe University, Melbourne, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry, La Trobe University, Melbourne, Australia","institution_ids":["https://openalex.org/I196829312"]}]},{"author_position":"middle","author":{"id":null,"display_name":"M T Ryan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I196829312","display_name":"La Trobe University","ror":"https://ror.org/01rxfrp27","country_code":"AU","type":"education","lineage":["https://openalex.org/I196829312"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"M T Ryan","raw_affiliation_strings":["Department of Biochemistry, La Trobe University, Melbourne, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry, La Trobe University, Melbourne, Australia","institution_ids":["https://openalex.org/I196829312"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075241712","display_name":"Callum J. Wilson","orcid":"https://orcid.org/0000-0003-2034-767X","observed_orcids":["https://orcid.org/0000-0003-2034-767X"]},"institutions":[{"id":"https://openalex.org/I4210144401","display_name":"Starship Children's Health","ror":"https://ror.org/04sh9kd82","country_code":"NZ","type":"healthcare","lineage":["https://openalex.org/I4210144401"]}],"countries":["NZ"],"is_corresponding":false,"raw_author_name":"C Wilson","raw_affiliation_strings":["Metabolic Service, National Testing Centre, Starship Children\u2019s Hospital, Auckland, New Zealand"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolic Service, National Testing Centre, Starship Children\u2019s Hospital, Auckland, New Zealand","institution_ids":["https://openalex.org/I4210144401"]}]},{"author_position":"middle","author":{"id":null,"display_name":"D Ketteridge","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801308011","display_name":"Women's and Children's Hospital","ror":"https://ror.org/03kwrfk72","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2801308011"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"D Ketteridge","raw_affiliation_strings":["Department of Chemical Pathology, Women\u2019s and Children\u2019s Hospital, Adelaide, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chemical Pathology, Women\u2019s and Children\u2019s Hospital, Adelaide, Australia","institution_ids":["https://openalex.org/I2801308011"]}]},{"author_position":"middle","author":{"id":null,"display_name":"D M Turnbull","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I84884186","display_name":"Newcastle University","ror":"https://ror.org/01kj2bm70","country_code":"GB","type":"education","lineage":["https://openalex.org/I84884186"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"D M Turnbull","raw_affiliation_strings":["Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, University of Newcastle upon Tyne, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, University of Newcastle upon Tyne, UK","institution_ids":["https://openalex.org/I84884186"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047836141","display_name":"David R. Thorburn","orcid":"https://orcid.org/0000-0002-7725-9470","observed_orcids":["https://orcid.org/0000-0002-7725-9470"]},"institutions":[{"id":"https://openalex.org/I1321649718","display_name":"Royal Children's Hospital","ror":"https://ror.org/02rktxt32","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1321649718"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"D R Thorburn","raw_affiliation_strings":["Department of Paediatrics, University of Melbourne, Australia","Genetic Health Services Victoria, Royal Children\u2019s Hospital, Melbourne, Australia","Murdoch Childrens Research Institute, Royal Children\u2019s Hospital, Melbourne, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, University of Melbourne, Australia","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Genetic Health Services Victoria, Royal Children\u2019s Hospital, Melbourne, Australia","institution_ids":["https://openalex.org/I1321649718"]},{"raw_affiliation_string":"Murdoch Childrens Research Institute, Royal Children\u2019s Hospital, Melbourne, Australia","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I4210150290"]}]},{"author_position":"last","author":{"id":null,"display_name":"R W Taylor","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I84884186","display_name":"Newcastle University","ror":"https://ror.org/01kj2bm70","country_code":"GB","type":"education","lineage":["https://openalex.org/I84884186"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"R W Taylor","raw_affiliation_strings":["Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, University of Newcastle upon Tyne, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, University of Newcastle upon Tyne, UK","institution_ids":["https://openalex.org/I84884186"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":8,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I84884186"],"apc_list":null,"apc_paid":null,"fwci":2.7907,"has_fulltext":true,"cited_by_count":187,"citation_normalized_percentile":{"value":0.91272468,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"41","issue":"10","first_page":"784","last_page":"789"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9970999956130981,"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":0.9970999956130981,"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":0.0010999999940395355,"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/T11642","display_name":"Genomics and Rare Diseases","score":9.999999747378752e-05,"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/melas","display_name":"MELAS","score":0.9660000205039978},{"id":"https://openalex.org/keywords/mitochondrial-complex-i-deficiency","display_name":"mitochondrial complex I deficiency","score":0.9160000085830688},{"id":"https://openalex.org/keywords/nd1-gene","display_name":"ND1 gene","score":0.7509999871253967},{"id":"https://openalex.org/keywords/mitochondrial-dna","display_name":"mitochondrial DNA","score":0.6380000114440918},{"id":"https://openalex.org/keywords/mitochondrial-encephalopathy","display_name":"mitochondrial encephalopathy","score":0.625},{"id":"https://openalex.org/keywords/lactic-acidosis","display_name":"lactic acidosis","score":0.8500000238418579},{"id":"https://openalex.org/keywords/stroke-like-episodes","display_name":"stroke-like episodes","score":0.9800000190734863},{"id":"https://openalex.org/keywords/complex-i-assembly","display_name":"complex I assembly","score":0.7379999756813049},{"id":"https://openalex.org/keywords/variant-pathogenicity","display_name":"variant pathogenicity","score":0.6520000100135803},{"id":"https://openalex.org/keywords/skeletal-muscle","display_name":"skeletal muscle","score":0.5989999771118164},{"id":"https://openalex.org/keywords/fibroblasts","display_name":"fibroblasts","score":0.8920000195503235}],"concepts":[{"id":"https://openalex.org/C2775833069","wikidata":"https://www.wikidata.org/wiki/Q6881881","display_name":"Mitochondrial myopathy","level":4,"score":0.8243969082832336},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.7800202369689941},{"id":"https://openalex.org/C2776287708","wikidata":"https://www.wikidata.org/wiki/Q2666433","display_name":"MELAS syndrome","level":5,"score":0.7412725687026978},{"id":"https://openalex.org/C2777614518","wikidata":"https://www.wikidata.org/wiki/Q935710","display_name":"Mitochondrial disease","level":4,"score":0.7214893698692322},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7045699954032898},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6528918147087097},{"id":"https://openalex.org/C2780317664","wikidata":"https://www.wikidata.org/wiki/Q1500373","display_name":"Lactic acidosis","level":2,"score":0.6297520995140076},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6212644577026367},{"id":"https://openalex.org/C3020377403","wikidata":"https://www.wikidata.org/wiki/Q211016","display_name":"Respiratory chain","level":3,"score":0.6111199855804443},{"id":"https://openalex.org/C3020761558","wikidata":"https://www.wikidata.org/wiki/Q211016","display_name":"Mitochondrial respiratory chain","level":3,"score":0.5813448429107666},{"id":"https://openalex.org/C28859421","wikidata":"https://www.wikidata.org/wiki/Q39572","display_name":"Mitochondrion","level":2,"score":0.5274791121482849},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.5007562637329102},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.49746254086494446},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.4184483289718628},{"id":"https://openalex.org/C151994961","wikidata":"https://www.wikidata.org/wiki/Q715263","display_name":"Human mitochondrial genetics","level":4,"score":0.41070759296417236},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.34918656945228577},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.08820664882659912}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008928","descriptor_name":"Mitochondria","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008928","descriptor_name":"Mitochondria","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009245","descriptor_name":"NADH Dehydrogenase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017241","descriptor_name":"MELAS Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017241","descriptor_name":"MELAS Syndrome","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D017241","descriptor_name":"MELAS Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D042967","descriptor_name":"Electron Transport Complex I","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.1136/jmg.2004.020537","doi":"https://doi.org/10.1136/jmg.2004.020537","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.2004.020537","pdf_url":"https://jmg.bmj.com/content/jmedgenet/41/10/784.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:857844","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1735602","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmid:15466014","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15466014","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 medical genetics","raw_type":"Case Reports"},{"id":"pmh:oai:pubmedcentral.nih.gov:1735602","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC1735602/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"J Med Genet","raw_type":"Text"},{"id":"pmh:oai:digital.library.adelaide.edu.au:2440/55572","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2440/55572","pdf_url":null,"source":{"id":"https://openalex.org/S4306401835","display_name":"Adelaide Research & Scholarship (AR&S) (University of Adelaide)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I5681781","host_organization_name":"The University of Adelaide","host_organization_lineage":["https://openalex.org/I5681781"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://dx.doi.org/10.1136/jmg.2004.020537","raw_type":"Journal article"},{"id":"doi:10.25405/ncl.34615230","doi":"https://doi.org/10.25405/ncl.34615230","is_oa":true,"landing_page_url":"https://doi.org/10.25405/ncl.34615230","pdf_url":null,"source":{"id":"https://openalex.org/S4306402485","display_name":"Newcastle University ePrints (Newcastle Univesity)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I84884186","host_organization_name":"Newcastle University","host_organization_lineage":["https://openalex.org/I84884186"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"},{"id":"doi:10.25405/ncl.34615230.v1","doi":"https://doi.org/10.25405/ncl.34615230.v1","is_oa":true,"landing_page_url":"https://doi.org/10.25405/ncl.34615230.v1","pdf_url":null,"source":{"id":"https://openalex.org/S4306402485","display_name":"Newcastle University ePrints (Newcastle Univesity)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I84884186","host_organization_name":"Newcastle University","host_organization_lineage":["https://openalex.org/I84884186"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"}],"best_oa_location":{"id":"doi:10.1136/jmg.2004.020537","doi":"https://doi.org/10.1136/jmg.2004.020537","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.2004.020537","pdf_url":"https://jmg.bmj.com/content/jmedgenet/41/10/784.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.8371999859809875,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320308306","display_name":"Muscular Dystrophy Association","ror":"https://ror.org/01frxsf98"},{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320322155","display_name":"Newcastle upon Tyne Hospitals NHS Foundation Trust","ror":"https://ror.org/05p40t847"},{"id":"https://openalex.org/F4320324913","display_name":"Muscular Dystrophy UK","ror":"https://ror.org/02zcamj98"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"},{"id":"https://openalex.org/F4320334704","display_name":"Australian Research Council","ror":"https://ror.org/05mmh0f86"},{"id":"https://openalex.org/F4320334705","display_name":"National Health and Medical Research Council","ror":"https://ror.org/011kf5r70"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2000875498.pdf","grobid_xml":"https://content.openalex.org/works/W2000875498.grobid-xml"},"referenced_works_count":29,"referenced_works":["https://openalex.org/W1499722891","https://openalex.org/W1546375972","https://openalex.org/W1790985176","https://openalex.org/W1965662719","https://openalex.org/W1967750933","https://openalex.org/W1974719543","https://openalex.org/W1980881456","https://openalex.org/W1994003350","https://openalex.org/W2001338354","https://openalex.org/W2003574027","https://openalex.org/W2005238912","https://openalex.org/W2009080995","https://openalex.org/W2010756313","https://openalex.org/W2010986573","https://openalex.org/W2023387343","https://openalex.org/W2034429340","https://openalex.org/W2058182576","https://openalex.org/W2066459419","https://openalex.org/W2067434074","https://openalex.org/W2072969519","https://openalex.org/W2089873655","https://openalex.org/W2095626761","https://openalex.org/W2103695431","https://openalex.org/W2122779961","https://openalex.org/W2128183127","https://openalex.org/W2132221325","https://openalex.org/W2150245289","https://openalex.org/W2315288240","https://openalex.org/W7075608355"],"related_works":["https://openalex.org/W2031524259","https://openalex.org/W2023387343","https://openalex.org/W3007877453","https://openalex.org/W2043201223","https://openalex.org/W4393282471","https://openalex.org/W2078799684","https://openalex.org/W2035578240","https://openalex.org/W2168332360","https://openalex.org/W1996745853","https://openalex.org/W2362902265"],"abstract_inverted_index":{"omplex":[0],"I":[1,27,79,132,211,263],"is":[2,28,71,87],"the":[3,6,29,74,94,115,125,161,187,225,229,248,255,259],"largest":[4],"of":[5,13,19,25,52,73,85,114,117,122,130,232,261],"mitochondrial":[7,58,95,126],"respiratory":[8,32],"chain":[9,33],"enzyme":[10],"complexes,":[11],"consisting":[12],"at":[14],"least":[15],"46":[16],"subunits,":[17],"seven":[18],"which":[20,180],"are":[21,156,168],"encoded":[22,46],"by":[23,39,89],"mtDNA.Deficiency":[24],"complex":[26,78,131,210,262],"most":[30,113,140],"common":[31],"defect,":[34],"and":[35,44,67,81,103,145,208,216,241],"can":[36],"be":[37,182],"caused":[38,88],"mutations":[40,100,123,159,170,223,234],"in":[41,82,93,101,124,142,150,160,171,213,224,258],"both":[42],"nuclear":[43],"mtDNA":[45],"genes.It":[47],"has":[48,191],"a":[49,90,120,147,251],"wide":[50],"range":[51],"clinical":[53],"presentations,":[54],"from":[55,237],"lethal":[56],"infantile":[57],"disease":[59],"to":[60,137,146,220],"isolated":[61,209],"myopathy.[1][2][3]":[62],"Mitochondrial":[63],"encephalopathy,":[64],"lactic":[65],"acidosis":[66],"stroke-like":[68],"episodes":[69],"(MELAS)":[70],"one":[72],"syndromes":[75],"associated":[76,165,173],"with":[77,166,174,206],"deficiency":[80,212],"approximately":[83],"80%":[84],"cases":[86],"mutation,":[91,189],"3243ARG,":[92],"tRNA":[96],"Leu(UUR)":[97],"gene":[98,164],"(MTTL1).Other":[99],"MTTL1":[102],"other":[104],"transfer":[105],"RNA":[106],"genes":[107,129],"(MTTF,":[108],"MTTV,":[109],"MTTQ)":[110],"account":[111],"for":[112,198,254],"remainder":[116],"cases.4":[118],"However,":[119],"number":[121],"MTND":[127],"subunit":[128,163,257],"have":[133],"also":[134],"been":[135],"reported":[136],"cause":[138],"MELAS,":[139],"notably":[141],"MTND5":[143],"5":[144],"lesser":[148],"extent":[149],"MTND6.6":[151],"In":[152],"stark":[153],"contrast,":[154],"there":[155],"presently":[157],"no":[158],"MTND1":[162,172,226],"MELAS.There":[167],"several":[169],"Leber's":[175],"hereditary":[176],"optic":[177],"neuropathy":[178],"(LHON)":[179],"may":[181],"pathogenic,":[183],"but":[184],"only":[185],"one,":[186],"3460GRA":[188],"that":[190],"robust":[192],"evidence,":[193],"including":[194],"cell":[195,238],"biology":[196],"studies,":[197],"pathogenicity.[7][8][9]":[199],"Here":[200],"we":[201],"report":[202],"three":[203],"unrelated":[204],"patients":[205],"MELAS":[207],"skeletal":[214],"muscle":[215],"cultured":[217],"fibroblasts":[218],"due":[219],"previously":[221],"unreported":[222],"gene.Evidence":[227],"confirming":[228,250],"pathogenic":[230],"nature":[231],"these":[233],"includes":[235],"data":[236],"fusion":[239],"experiments":[240],"blue":[242],"native":[243],"polyacrylamide":[244],"gel":[245],"electrophoresis":[246],"(BN-PAGE),":[247],"latter":[249],"crucial":[252],"role":[253],"ND1":[256],"assembly":[260],"holoenzyme.":[264]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":15},{"year":2021,"cited_by_count":11},{"year":2020,"cited_by_count":15},{"year":2019,"cited_by_count":11},{"year":2018,"cited_by_count":6},{"year":2017,"cited_by_count":8},{"year":2016,"cited_by_count":13},{"year":2015,"cited_by_count":7},{"year":2014,"cited_by_count":7},{"year":2013,"cited_by_count":11},{"year":2012,"cited_by_count":11}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2016-06-24T00:00:00"}