{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T22:26:45Z","timestamp":1791066405647,"version":"4.1.0"},"reference-count":71,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2010,8,1]],"date-time":"2010-08-01T00:00:00Z","timestamp":1280620800000},"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":["Methods"],"published-print":{"date-parts":[[2010,8]]},"DOI":"10.1016\/j.ymeth.2010.05.008","type":"journal-article","created":{"date-parts":[[2010,6,17]],"date-time":"2010-06-17T09:01:07Z","timestamp":1276765267000},"page":"364-373","source":"Crossref","is-referenced-by-count":95,"title":["The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders"],"prefix":"10.1016","volume":"51","author":[{"given":"Bruce H.","family":"Cohen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert K.","family":"Naviaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymeth.2010.05.008_bib1","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1001\/archneurpsyc.1931.02230030027002","volume":"25","author":"Alpers","year":"1931","journal-title":"Arch. Neurol. Psychiatry"},{"key":"10.1016\/j.ymeth.2010.05.008_bib2","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1007\/BF01653177","volume":"116","author":"Jakob","year":"1930","journal-title":"Dtsch. Z. Nervenheilkd."},{"key":"10.1016\/j.ymeth.2010.05.008_bib3","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1136\/adc.38.199.193","volume":"38","author":"Blackwood","year":"1963","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.ymeth.2010.05.008_bib4","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1136\/jnnp.35.6.749","volume":"35","author":"Sandbank","year":"1972","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.ymeth.2010.05.008_bib5","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1001\/archneur.1976.00500030042009","volume":"33","author":"Huttenlocher","year":"1976","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.ymeth.2010.05.008_bib6","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1001\/archneur.1981.00510120067011","volume":"38","author":"Prick","year":"1981","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.ymeth.2010.05.008_bib7","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1055\/s-2008-1059608","volume":"13","author":"Prick","year":"1982","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ymeth.2010.05.008_bib8","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1600-0404.1984.tb00813.x","volume":"70","author":"Gabre\u00ebls","year":"1984","journal-title":"Acta Neurol. Scand."},{"key":"10.1016\/j.ymeth.2010.05.008_bib9","first-page":"63","volume":"17","author":"W\u00f6rle","year":"1998","journal-title":"Clin. Neuropathol."},{"key":"10.1016\/j.ymeth.2010.05.008_bib10","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1177\/088307389000500402","volume":"5","author":"Harding","year":"1990","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.ymeth.2010.05.008_bib11","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1006\/geno.1996.0490","volume":"36","author":"Ropp","year":"1996","journal-title":"Genomics"},{"key":"10.1016\/j.ymeth.2010.05.008_bib12","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/S0378-1119(96)00663-4","volume":"185","author":"Lecrenier","year":"1997","journal-title":"Gene"},{"key":"10.1016\/j.ymeth.2010.05.008_bib13","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1002\/1531-8249(199901)45:1<54::AID-ART10>3.0.CO;2-B","volume":"45","author":"Naviaux","year":"1999","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymeth.2010.05.008_bib14","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/90034","volume":"28","author":"Van Goethem","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymeth.2010.05.008_bib15","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1126\/science.283.5402.689","volume":"283","author":"Nishino","year":"1999","journal-title":"Science"},{"key":"10.1016\/j.ymeth.2010.05.008_bib16","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1002\/ana.20079","volume":"55","author":"Naviaux","year":"2004","journal-title":"Ann. Neurol."},{"issue":"29","key":"10.1016\/j.ymeth.2010.05.008_bib17","doi-asserted-by":"crossref","first-page":"E150","DOI":"10.1002\/humu.20824","volume":"10","author":"Wong","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymeth.2010.05.008_bib18","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/90034","volume":"28","author":"Van Goethem","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymeth.2010.05.008_bib19","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1002\/ana.10278","volume":"52","author":"Lamantea","year":"2002","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymeth.2010.05.008_bib20","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0960-8966(02)00216-X","volume":"13","author":"Van Goethem","year":"2003","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ymeth.2010.05.008_bib21","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1002\/ana.20079","volume":"55","author":"Naviaux","year":"2004","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymeth.2010.05.008_bib22","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1016\/S0140-6736(04)16983-3","volume":"364","author":"Luoma","year":"2004","journal-title":"Lancet"},{"key":"10.1016\/j.ymeth.2010.05.008_bib23","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1093\/brain\/awh410","volume":"128","author":"Ferrari","year":"2005","journal-title":"Brain"},{"key":"10.1016\/j.ymeth.2010.05.008_bib24","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1093\/hmg\/ddi196","volume":"14","author":"Luoma","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymeth.2010.05.008_bib25","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1002\/ana.20498","volume":"57","author":"Davidzon","year":"2005","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymeth.2010.05.008_bib26","doi-asserted-by":"crossref","first-page":"1674","DOI":"10.1093\/brain\/awl088","volume":"129","author":"Horvath","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.ymeth.2010.05.008_bib27","doi-asserted-by":"crossref","first-page":"1685","DOI":"10.1093\/brain\/awl097","volume":"129","author":"Tzoulis","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.ymeth.2010.05.008_bib28","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1016\/j.dnarep.2005.08.010","volume":"4","author":"Chan","year":"2005","journal-title":"DNA Repair"},{"key":"10.1016\/j.ymeth.2010.05.008_bib29","doi-asserted-by":"crossref","first-page":"38555","DOI":"10.1074\/jbc.M105230200","volume":"276","author":"Longley","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymeth.2010.05.008_bib30","doi-asserted-by":"crossref","first-page":"19501","DOI":"10.1074\/jbc.M109.011940","volume":"284","author":"Kasiviswanathan","year":"2009","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymeth.2010.05.008_bib31","first-page":"59","volume":"vol. 554","author":"Chan","year":"2009"},{"key":"10.1016\/j.ymeth.2010.05.008_bib32","doi-asserted-by":"crossref","first-page":"2729","DOI":"10.1093\/hmg\/ddm227","volume":"16","author":"Graziewicz","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymeth.2010.05.008_bib33","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1001\/archneurol.2007.9","volume":"65","author":"Ferraris","year":"2008","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.ymeth.2010.05.008_bib34","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1086\/504303","volume":"78","author":"Longley","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymeth.2010.05.008_bib35","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1146\/annurev.med.59.053006.104646","volume":"59","author":"Copeland","year":"2008","journal-title":"Annu. Rev. Med."},{"key":"10.1016\/j.ymeth.2010.05.008_bib36","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1111\/j.1750-3639.1992.tb00682.x","volume":"2","author":"Ricci","year":"1992","journal-title":"Brain Pathol."},{"key":"10.1016\/j.ymeth.2010.05.008_bib37","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1016\/j.jpeds.2007.01.044","volume":"150","author":"Sarzi","year":"2007","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymeth.2010.05.008_bib38","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/ng746","volume":"29","author":"Mandel","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymeth.2010.05.008_bib39","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1038\/ng1765","volume":"38","author":"Spinazzola","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymeth.2010.05.008_bib40","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1086\/506913","volume":"79","author":"Karadimas","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymeth.2010.05.008_bib41","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1038\/ng2040","volume":"39","author":"Bourdon","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymeth.2010.05.008_bib42","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1086\/430843","volume":"76","author":"Elpeleg","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymeth.2010.05.008_bib43","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1086\/519222","volume":"81","author":"Ostergaard","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymeth.2010.05.008_bib44","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1038\/ng751","volume":"29","author":"Saada","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymeth.2010.05.008_bib45","unstructured":"B.H. Cohen, P.F. Chinnery, W.C. Copeland, in: GeneReviews at GeneTests: Medical Genetics Information Resource, Copyright, University of Washington, Seattle, 2010. Available from: <http:\/\/www.genetests.org> (database online)."},{"key":"10.1016\/j.ymeth.2010.05.008_bib46","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1055\/s-2001-16614","volume":"32","author":"Gauthier-Villars","year":"2001","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ymeth.2010.05.008_bib47","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1002\/ana.20544","volume":"58","author":"Naviaux","year":"2005","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymeth.2010.05.008_bib48","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.jhep.2005.12.026","volume":"45","author":"Nguyen","year":"2006","journal-title":"J. Hepatol."},{"key":"10.1016\/j.ymeth.2010.05.008_bib49","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1177\/088307389000500402","volume":"5","author":"Harding","year":"1990","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.ymeth.2010.05.008_bib50","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1086\/444548","volume":"77","author":"Hakonen","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymeth.2010.05.008_bib51","doi-asserted-by":"crossref","first-page":"1204","DOI":"10.1212\/01.WNL.0000156516.77696.5A","volume":"64","author":"Winterthun","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.ymeth.2010.05.008_bib52","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/j.seizure.2010.01.002","volume":"19","author":"Saneto","year":"2010","journal-title":"Seizure"},{"issue":"65","key":"10.1016\/j.ymeth.2010.05.008_bib53","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1212\/01.wnl.0000182814.55361.70","volume":"8","author":"Nguyen","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.ymeth.2010.05.008_bib54","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1002\/ana.410320610","volume":"32","author":"Bicknese","year":"1992","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymeth.2010.05.008_bib55","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1212\/WNL.62.2.316","volume":"27","author":"Mancuso","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.ymeth.2010.05.008_bib56","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1212\/01.WNL.0000140494.58732.83","volume":"63","author":"Van Goethem","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.ymeth.2010.05.008_bib57","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1002\/humu.9203","volume":"22","author":"Di Fonzo","year":"2003","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymeth.2010.05.008_bib58","doi-asserted-by":"crossref","first-page":"3780","DOI":"10.1210\/jc.2005-0009","volume":"90","author":"Mochel","year":"2005","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ymeth.2010.05.008_bib59","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/0899-7071(95)00039-9","volume":"20","author":"Smith","year":"1996","journal-title":"Clin. Imaging"},{"key":"10.1016\/j.ymeth.2010.05.008_bib60","doi-asserted-by":"crossref","first-page":"1596","DOI":"10.1111\/j.1528-1167.2008.01877.x","volume":"50","author":"Wolf","year":"2009","journal-title":"Epilepsia"},{"key":"10.1016\/j.ymeth.2010.05.008_bib61","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1007\/s00401-003-0698-x","volume":"106","author":"Simonati","year":"2003","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ymeth.2010.05.008_bib62","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1055\/s-2008-1052505","volume":"17","author":"Boyd","year":"1986","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ymeth.2010.05.008_bib63","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1212\/01.WNL.0000098997.23471.65","volume":"61","author":"Van Goethem","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.ymeth.2010.05.008_bib64","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1212\/WNL.49.1.239","volume":"49","author":"Fadic","year":"1997","journal-title":"Neurology"},{"issue":"2006","key":"10.1016\/j.ymeth.2010.05.008_bib65","doi-asserted-by":"crossref","first-page":"2467","DOI":"10.1093\/humrep\/del076","volume":"21","author":"Pagnamenta","year":"2006","journal-title":"Hum. Reprod."},{"key":"10.1016\/j.ymeth.2010.05.008_bib66","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1016\/j.bbadis.2009.08.016","volume":"1792","author":"Poulton","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymeth.2010.05.008_bib67","doi-asserted-by":"crossref","first-page":"1405","DOI":"10.1212\/WNL.56.10.1405","volume":"56","author":"Bohan","year":"2001","journal-title":"Neurology"},{"key":"10.1016\/j.ymeth.2010.05.008_bib68","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.ymgme.2009.08.005","volume":"99","author":"Hasselmann","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymeth.2010.05.008_bib69","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1007\/s11940-009-0046-0","volume":"11","author":"Parikh","year":"2009","journal-title":"Curr. Treat. Options Neurol."},{"key":"10.1016\/j.ymeth.2010.05.008_bib70","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1055\/s-2001-17948","volume":"21","author":"Gold","year":"2001","journal-title":"Semin. Neurol."},{"key":"10.1016\/j.ymeth.2010.05.008_bib71","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1002\/ana.21568","volume":"65","author":"Gallagher","year":"2009","journal-title":"Ann. Neurol."}],"container-title":["Methods"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1046202310001520?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1046202310001520?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,6,5]],"date-time":"2020-06-05T21:45:07Z","timestamp":1591393507000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1046202310001520"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8]]},"references-count":71,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010,8]]}},"alternative-id":["S1046202310001520"],"URL":"https:\/\/doi.org\/10.1016\/j.ymeth.2010.05.008","relation":{},"ISSN":["1046-2023"],"issn-type":[{"value":"1046-2023","type":"print"}],"subject":[],"published":{"date-parts":[[2010,8]]}}}