{"id":"https://openalex.org/W7075608355","doi":null,"title":"De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.","display_name":"De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.","publication_year":null,"publication_date":null,"ids":{"openalex":"https://openalex.org/W7075608355"},"language":"en","primary_location":{"id":"pmh:rug:oai:pure.rug.nl:publications/260d56b0-3939-416b-a628-e52657211f95","doi":null,"is_oa":false,"landing_page_url":"https://www.rug.nl/research/portal/en/publications/de-novo-mutations-in-the-mitochondrial-nd3-gene-as-a-cause-of-infantile-mitochondrial-encephalopathy-and-complex-i-deficiency(260d56b0-3939-416b-a628-e52657211f95).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306400420","display_name":"University of Groningen research database (University of Groningen / Centre for Information Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I169381384","host_organization_name":"University of Groningen","host_organization_lineage":["https://openalex.org/I169381384"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American Journal of Human Genetics, 73(5), 462 - 462","raw_type":"info:eu-repo/semantics/article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"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/A5053767923","display_name":"Robert McFarland","orcid":"https://orcid.org/0000-0002-8833-2688","observed_orcids":["https://orcid.org/0000-0002-8833-2688"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"McFarland, R","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Kirby, DM","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kirby, DM","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Fowler, KJ","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Fowler, KJ","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Ohtake, A","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ohtake, A","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Ryan, MT","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ryan, MT","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Amor, DJ","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Amor, DJ","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Fletcher, JM","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Fletcher, JM","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Dixon, JW","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Dixon, JW","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Collins, FA","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Collins, FA","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Turnbull, DM","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Turnbull, DM","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5145172397","display_name":"RW Taylor","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Taylor, RW","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","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":[],"countries":[],"is_corresponding":false,"raw_author_name":"Thorburn, DR","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":13,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":true,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9810000061988831,"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":0.9810000061988831,"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":0.01489999983459711,"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":0.0010000000474974513,"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/de-novo-mutations","display_name":"de novo mutations","score":0.9900000095367432},{"id":"https://openalex.org/keywords/complex-i-deficiency","display_name":"complex I deficiency","score":0.9459999799728394},{"id":"https://openalex.org/keywords/mitochondrial-dna","display_name":"mitochondrial DNA","score":0.6110000014305115},{"id":"https://openalex.org/keywords/leigh-syndrome","display_name":"Leigh syndrome","score":0.7540000081062317},{"id":"https://openalex.org/keywords/mitochondrial-disease","display_name":"mitochondrial disease","score":0.3720000088214874}],"concepts":[{"id":"https://openalex.org/C144251240","wikidata":"https://www.wikidata.org/wiki/Q7068229","display_name":"Nucleofection","level":4,"score":0.46389999985694885},{"id":"https://openalex.org/C2992336715","wikidata":"https://www.wikidata.org/wiki/Q63431143","display_name":"Gestational period","level":4,"score":0.39410001039505005},{"id":"https://openalex.org/C2778283623","wikidata":"https://www.wikidata.org/wiki/Q18032200","display_name":"TSG101","level":5,"score":0.34200000762939453},{"id":"https://openalex.org/C18743360","wikidata":"https://www.wikidata.org/wiki/Q1208096","display_name":"Diafiltration","level":4,"score":0.32919999957084656},{"id":"https://openalex.org/C2777054765","wikidata":"https://www.wikidata.org/wiki/Q6402731","display_name":"Dysgeusia","level":3,"score":0.3273000121116638},{"id":"https://openalex.org/C180938184","wikidata":"https://www.wikidata.org/wiki/Q2142270","display_name":"Liquation","level":3,"score":0.32339999079704285},{"id":"https://openalex.org/C2777968768","wikidata":"https://www.wikidata.org/wiki/Q1280161","display_name":"Emperipolesis","level":4,"score":0.3124000132083893},{"id":"https://openalex.org/C2776781215","wikidata":"https://www.wikidata.org/wiki/Q83253","display_name":"Triacetin","level":2,"score":0.30709999799728394},{"id":"https://openalex.org/C133074676","wikidata":"https://www.wikidata.org/wiki/Q428729","display_name":"Fusible alloy","level":2,"score":0.3010999858379364},{"id":"https://openalex.org/C145741570","wikidata":"https://www.wikidata.org/wiki/Q7251534","display_name":"Proteogenomics","level":5,"score":0.2930000126361847},{"id":"https://openalex.org/C2777742743","wikidata":"https://www.wikidata.org/wiki/Q19904005","display_name":"Durvalumab","level":5,"score":0.29260000586509705},{"id":"https://openalex.org/C104545631","wikidata":"https://www.wikidata.org/wiki/Q464858","display_name":"Demotion","level":3,"score":0.2904999852180481},{"id":"https://openalex.org/C2777935831","wikidata":"https://www.wikidata.org/wiki/Q3144949","display_name":"Hemopericardium","level":3,"score":0.2883000075817108},{"id":"https://openalex.org/C2778843634","wikidata":"https://www.wikidata.org/wiki/Q2013780","display_name":"Ocrelizumab","level":4,"score":0.2842999994754791},{"id":"https://openalex.org/C2777158700","wikidata":"https://www.wikidata.org/wiki/Q1419356","display_name":"Hyporeflexia","level":3,"score":0.2840000092983246},{"id":"https://openalex.org/C135979968","wikidata":"https://www.wikidata.org/wiki/Q609809","display_name":"Protein isoform","level":5,"score":0.2831000089645386},{"id":"https://openalex.org/C2779627259","wikidata":"https://www.wikidata.org/wiki/Q779763","display_name":"Pretext","level":3,"score":0.28130000829696655},{"id":"https://openalex.org/C2775917601","wikidata":"https://www.wikidata.org/wiki/Q1424050","display_name":"Sclerodactyly","level":4,"score":0.27889999747276306},{"id":"https://openalex.org/C2779645999","wikidata":"https://www.wikidata.org/wiki/Q1858477","display_name":"Frugality","level":2,"score":0.2743000090122223},{"id":"https://openalex.org/C2909186138","wikidata":"https://www.wikidata.org/wiki/Q1500373","display_name":"Hyperlactatemia","level":2,"score":0.273499995470047},{"id":"https://openalex.org/C2780904289","wikidata":"https://www.wikidata.org/wiki/Q426498","display_name":"Tantalum carbide","level":3,"score":0.2637999951839447},{"id":"https://openalex.org/C2781032047","wikidata":"https://www.wikidata.org/wiki/Q938793","display_name":"Articular cartilage damage","level":5,"score":0.26339998841285706},{"id":"https://openalex.org/C2776356786","wikidata":"https://www.wikidata.org/wiki/Q1048573","display_name":"Tubulopathy","level":3,"score":0.25769999623298645},{"id":"https://openalex.org/C2778128915","wikidata":"https://www.wikidata.org/wiki/Q3782613","display_name":"Contractualism","level":2,"score":0.2540999948978424},{"id":"https://openalex.org/C2776714567","wikidata":"https://www.wikidata.org/wiki/Q7861081","display_name":"Typhoid vaccine","level":3,"score":0.250900000333786}],"mesh":[],"locations_count":1,"locations":[{"id":"pmh:rug:oai:pure.rug.nl:publications/260d56b0-3939-416b-a628-e52657211f95","doi":null,"is_oa":false,"landing_page_url":"https://www.rug.nl/research/portal/en/publications/de-novo-mutations-in-the-mitochondrial-nd3-gene-as-a-cause-of-infantile-mitochondrial-encephalopathy-and-complex-i-deficiency(260d56b0-3939-416b-a628-e52657211f95).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306400420","display_name":"University of Groningen research database (University of Groningen / Centre for Information Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I169381384","host_organization_name":"University of Groningen","host_organization_lineage":["https://openalex.org/I169381384"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American Journal of Human Genetics, 73(5), 462 - 462","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3"}],"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/W2009245050","https://openalex.org/W2064265169","https://openalex.org/W7066771480","https://openalex.org/W2086024801","https://openalex.org/W2072132091","https://openalex.org/W7220924737","https://openalex.org/W7222790694","https://openalex.org/W2051081704","https://openalex.org/W7220663251","https://openalex.org/W1976734362"],"abstract_inverted_index":null,"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2014,"cited_by_count":2}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2025-10-10T00:00:00"}