{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T14:03:19Z","timestamp":1753884199217},"reference-count":33,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2011,4,1]],"date-time":"2011-04-01T00:00:00Z","timestamp":1301616000000},"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":[[2011,4]]},"DOI":"10.1016\/j.bbrc.2011.03.094","type":"journal-article","created":{"date-parts":[[2011,4,2]],"date-time":"2011-04-02T20:33:38Z","timestamp":1301776418000},"page":"747-752","source":"Crossref","is-referenced-by-count":6,"title":["A whole mitochondrial genome screening in a MELAS patient: A novel mitochondrial tRNAVal mutation"],"prefix":"10.1016","volume":"407","author":[{"given":"Najla","family":"Mezghani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mouna","family":"Mnif","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maha","family":"Kacem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emna","family":"Mkaouar-Rebai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ikhlass","family":"Hadj Salem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nozha","family":"Kallel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"charfi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed","family":"Abid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faiza","family":"fakhfakh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbrc.2011.03.094_b0005","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/ana.21217","article-title":"Prevalence of mitochondrial DNA disease in adults","volume":"63","author":"Schaefer","year":"2008","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbrc.2011.03.094_b0010","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/mus.20807","article-title":"Pathogenic mitochondrial DNA mutations in proteincoding genes","volume":"36","author":"Wong","year":"2007","journal-title":"Muscle Nerve."},{"key":"10.1016\/j.bbrc.2011.03.094_b0015","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1007\/s00415-003-0978-3","article-title":"Mitochondrial cytopathies","volume":"250","author":"Schmiedel","year":"2003","journal-title":"J. Neurol."},{"key":"10.1016\/j.bbrc.2011.03.094_b0020","doi-asserted-by":"crossref","first-page":"446","DOI":"10.3858\/emm.2010.42.6.046","article-title":"Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases","volume":"42","author":"Choi","year":"2010","journal-title":"Exp. Mol. Med."},{"key":"10.1016\/j.bbrc.2011.03.094_b0025","doi-asserted-by":"crossref","first-page":"2656","DOI":"10.1056\/NEJMra022567","article-title":"Mitochondrial Respiratory-chain diseases","volume":"348","author":"DiMauro","year":"2003","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bbrc.2011.03.094_b0030","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1006\/bbrc.1997.7167","article-title":"Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS","volume":"238","author":"Santorelli","year":"1997","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbrc.2011.03.094_b0035","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1001\/archneurol.2007.67","article-title":"The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases","volume":"65","author":"Shanske","year":"2008","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.bbrc.2011.03.094_b0040","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1002\/1531-8249(200101)49:1<106::AID-ANA16>3.0.CO;2-T","article-title":"A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients","volume":"49","author":"Corona","year":"2001","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbrc.2011.03.094_b0045","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1002\/ana.10435","article-title":"Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?","volume":"53","author":"Liolitsa","year":"2003","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbrc.2011.03.094_b0050","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1038\/sj.ejhg.5200712","article-title":"An mtDNA mutation, 14453G>A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome","volume":"9","author":"Ravn","year":"2001","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.bbrc.2011.03.094_b0055","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1136\/jmg.2004.020537","article-title":"Mutations of the mitochondrial ND1 gene as a cause of MELAS","volume":"41","author":"Kirby","year":"2004","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bbrc.2011.03.094_b0060","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1002\/humu.20378","article-title":"Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA","volume":"27","author":"Ruiz-Pesini","year":"2006","journal-title":"Hum. Mut."},{"key":"10.1016\/j.bbrc.2011.03.094_b0065","doi-asserted-by":"crossref","first-page":"443","DOI":"10.2165\/00023210-200620060-00002","article-title":"The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options","volume":"20","author":"Scaglia","year":"2006","journal-title":"CNS Drugs"},{"key":"10.1016\/j.bbrc.2011.03.094_b0070","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1600-0404.2007.00836.x","article-title":"Genetic, pathogenetic and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation","volume":"116","author":"Finister","year":"2007","journal-title":"Acta Neurol. Scand."},{"key":"10.1016\/j.bbrc.2011.03.094_b0075","first-page":"30","article-title":"Mitochondrial encephalomyopathy with lactic acidosis and stroke (MELAS)","volume":"2","author":"Matsumoto","year":"2005","journal-title":"Rev. Neurol. Dis."},{"key":"10.1016\/j.bbrc.2011.03.094_b0080","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.ijcard.2008.04.089","article-title":"Manifestations of the mitochondrial A3243G mutation","volume":"137","author":"Finsterer","year":"2009","journal-title":"Int. J. Cardiol."},{"key":"10.1016\/j.bbrc.2011.03.094_b0085","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1111\/j.1464-5491.2008.02359.x","article-title":"Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation","volume":"25","author":"Murphy","year":"2008","journal-title":"Diabet. Med."},{"key":"10.1016\/j.bbrc.2011.03.094_b0090","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/j.mito.2006.12.004","article-title":"Population prevalence of the MELAS A3243G mutation","volume":"7","author":"Manwaring","year":"2007","journal-title":"Mitochondrion."},{"key":"10.1016\/j.bbrc.2011.03.094_b0095","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1177\/08830738060210110601","article-title":"Novel mitochondrial DNA transversion mutation in transfer ribonucleic acid for leucine 2 (CUN) in a patient with the clinical features of MELAS","volume":"21","author":"Abu-Amero","year":"2006","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.bbrc.2011.03.094_b0100","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1212\/01.wnl.0000261929.92478.3e","article-title":"MELAS associated with mutations in the POLG1 gene","volume":"68","author":"Deschauer","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.bbrc.2011.03.094_b0105","first-page":"522","article-title":"A simple method for DNA extraction from leukocytes for use in PCR","volume":"13","author":"Lewin","year":"1992","journal-title":"Biotechniques"},{"key":"10.1016\/j.bbrc.2011.03.094_b0110","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1016\/j.bbrc.2007.02.083","article-title":"Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases","volume":"355","author":"Mkaouar-Rebai","year":"2007","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbrc.2011.03.094_b0115","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1093\/nar\/26.4.967","article-title":"Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome","volume":"26","author":"Rieder","year":"1998","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbrc.2011.03.094_b0120","doi-asserted-by":"crossref","first-page":"3429","DOI":"10.1093\/nar\/gkg599","article-title":"Vienna R.N.A. secondary structure server","volume":"31","author":"Hofacker","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbrc.2011.03.094_b0125","doi-asserted-by":"crossref","first-page":"1152","DOI":"10.1086\/339933","article-title":"Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups","volume":"70","author":"Herrnstadt","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbrc.2011.03.094_b0130","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1086\/425161","article-title":"Ethiopian mitochondrial DNA heritage: tracking gene flow across and around the gate of tears","volume":"75","author":"Kivisild","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbrc.2011.03.094_b0135","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.jns.2010.06.029","article-title":"MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions","volume":"296","author":"Aharoni","year":"2010","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.bbrc.2011.03.094_b0140","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1212\/WNL.50.1.293","article-title":"A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes","volume":"50","author":"de Coo","year":"1998","journal-title":"Neurology"},{"key":"10.1016\/j.bbrc.2011.03.094_b0145","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1212\/WNL.49.2.589","article-title":"A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome","volume":"49","author":"Chalmers","year":"1997","journal-title":"Neurology"},{"key":"10.1016\/j.bbrc.2011.03.094_b0150","first-page":"460","article-title":"A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS","volume":"5","author":"Menotti","year":"2004","journal-title":"Ital. Heart J."},{"key":"10.1016\/j.bbrc.2011.03.094_b0155","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1002\/ana.410430116","article-title":"A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation","volume":"43","author":"Tiranti","year":"1998","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbrc.2011.03.094_b0160","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.2011.03.094_b0165","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1002\/1531-8249(199901)45:1<130::AID-ART21>3.0.CO;2-Z","article-title":"A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism\/MELAS overlap syndrome","volume":"45","author":"de Coo","year":"1999","journal-title":"Ann. Neurol."}],"container-title":["Biochemical and Biophysical Research Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006291X11004918?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006291X11004918?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,3]],"date-time":"2018-12-03T20:23:31Z","timestamp":1543868611000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0006291X11004918"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,4]]},"references-count":33,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2011,4]]}},"alternative-id":["S0006291X11004918"],"URL":"https:\/\/doi.org\/10.1016\/j.bbrc.2011.03.094","relation":{},"ISSN":["0006-291X"],"issn-type":[{"value":"0006-291X","type":"print"}],"subject":[],"published":{"date-parts":[[2011,4]]}}}