{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,17]],"date-time":"2026-05-17T01:54:49Z","timestamp":1778982889165,"version":"3.51.4"},"reference-count":17,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2004,11,1]],"date-time":"2004-11-01T00:00:00Z","timestamp":1099267200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biochemical and Biophysical Research Communications"],"published-print":{"date-parts":[[2004,11]]},"DOI":"10.1016\/j.bbrc.2004.09.058","type":"journal-article","created":{"date-parts":[[2004,10,5]],"date-time":"2004-10-05T15:08:50Z","timestamp":1096988930000},"page":"360-364","source":"Crossref","is-referenced-by-count":11,"title":["Sequence analysis of the complete mitochondrial genome in patients with mitochondrial encephaloneuromyopathies lacking the common pathogenic DNA mutations"],"prefix":"10.1016","volume":"324","author":[{"given":"Paola","family":"Da Pozzo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Cardaioli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Radi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Federico","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbrc.2004.09.058_bib1","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/13779","article-title":"Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA","volume":"23","author":"Andrews","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbrc.2004.09.058_bib2","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1212\/WNL.45.2.286","article-title":"Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene","volume":"45","author":"Shoffner","year":"1995","journal-title":"Neurology"},{"key":"10.1016\/j.bbrc.2004.09.058_bib3","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/BF00434661","article-title":"Sequence analysis of cDNAs for the human and bovine ATP synthase beta subunit: mitochondrial DNA genes sustain seventeen times more mutations","volume":"12","author":"Wallace","year":"1987","journal-title":"Curr. Genet."},{"key":"10.1016\/j.bbrc.2004.09.058_bib4","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1146\/annurev.med.50.1.111","article-title":"Mitochondrial disorders: clinical and genetic features","volume":"50","author":"Simon","year":"1999","journal-title":"Annu. Rev. Med."},{"key":"10.1016\/j.bbrc.2004.09.058_bib5","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1111\/j.1750-3639.2000.tb00275.x","article-title":"Mutations in mtDNA: are we scraping the bottom of the barrel?","volume":"10","author":"DiMauro","year":"2000","journal-title":"Brain Pathol."},{"key":"10.1016\/j.bbrc.2004.09.058_bib6","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/S0168-9525(03)00072-6","article-title":"Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear\u2013mitochondrial interaction","volume":"19","author":"Carelli","year":"2003","journal-title":"Trends Genet."},{"key":"10.1016\/j.bbrc.2004.09.058_bib7","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1007\/PL00000673","article-title":"Mitochondrial defects and hearing loss","volume":"57","author":"Hutchin","year":"2000","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.bbrc.2004.09.058_bib8","doi-asserted-by":"crossref","first-page":"1786","DOI":"10.1016\/S0735-1097(03)00300-0","article-title":"Homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy","volume":"41","author":"Taylor","year":"2003","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.bbrc.2004.09.058_bib9","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1001\/archneur.1993.00540110075008","article-title":"Mitochondrial encephalomyopathies","volume":"50","author":"DiMauro","year":"1993","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.bbrc.2004.09.058_bib10","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1093\/molehr\/3.2.133","article-title":"Mitochondrial disorders","volume":"3","author":"Zeviani","year":"1997","journal-title":"Mol. Hum. Reprod."},{"key":"10.1016\/j.bbrc.2004.09.058_bib11","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1002\/(SICI)1096-8628(19980605)77:5<395::AID-AJMG8>3.0.CO;2-M","article-title":"Yield of mtDNA mutation analysis in 2000 patients","volume":"77","author":"Liang","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.bbrc.2004.09.058_bib12","doi-asserted-by":"crossref","first-page":"1835","DOI":"10.1093\/genetics\/144.4.1835","article-title":"Classification of European mtDNAs from an analysis of three European populations","volume":"144","author":"Torroni","year":"1996","journal-title":"Genetics"},{"key":"10.1016\/j.bbrc.2004.09.058_bib13","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1038\/ng0793-289","article-title":"Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness","volume":"4","author":"Prezant","year":"1993","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbrc.2004.09.058_bib14","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1016\/S0006-291X(02)00672-1","article-title":"Sequence analysis of the complete mitochondrial genome in patients with Leber\u2019s hereditary optic neuropathy lacking the three most common pathogenic DNA mutations","volume":"295","author":"Fauser","year":"2002","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbrc.2004.09.058_bib15","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1038\/ng819","article-title":"Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation","volume":"30","author":"McFarland","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbrc.2004.09.058_bib16","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1093\/hmg\/5.4.473","article-title":"Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease?","volume":"5","author":"Marchington","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbrc.2004.09.058_bib17","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1006\/bbrc.1996.0722","article-title":"Accumulation of somatic nucleotide substitutions in mitochondrial DNA associated with the 3243 A-to-G tRNA(leu)(UUR) mutation in encephalomyopathy and cardiomyopathy","volume":"222","author":"Kovalenko","year":"1996","journal-title":"Biochem. Biophys. Res. Commun."}],"container-title":["Biochemical and Biophysical Research Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006291X04020273?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006291X04020273?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,6,26]],"date-time":"2021-06-26T06:06:37Z","timestamp":1624687597000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0006291X04020273"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,11]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,11]]}},"alternative-id":["S0006291X04020273"],"URL":"https:\/\/doi.org\/10.1016\/j.bbrc.2004.09.058","relation":{},"ISSN":["0006-291X"],"issn-type":[{"value":"0006-291X","type":"print"}],"subject":[],"published":{"date-parts":[[2004,11]]}}}