{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,6]],"date-time":"2024-07-06T23:31:09Z","timestamp":1720308669644},"reference-count":16,"publisher":"VM Media SP. zo.o VM Group SK","issue":"1","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"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":["Neurologia i Neurochirurgia Polska"],"published-print":{"date-parts":[[2014,1]]},"DOI":"10.1016\/j.pjnns.2013.09.003","type":"journal-article","created":{"date-parts":[[2014,3,22]],"date-time":"2014-03-22T20:51:47Z","timestamp":1395521507000},"page":"76-80","source":"Crossref","is-referenced-by-count":1,"title":["Mitochondrial encephalomyopathy: Towards diagnosis. A case report"],"prefix":"10.5603","volume":"48","author":[{"given":"Ma\u0142gorzata","family":"Gawe\u0142","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Biruta","family":"Kierdaszuk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna","family":"To\u0144ska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magdalena","family":"Kaliszewska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Justyna","family":"Kubiszewska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zygmunt","family":"Jamrozik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Bartnik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hubert","family":"Kwieci\u0144ski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna M.","family":"Kami\u0144ska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3595","reference":[{"key":"10.1016\/j.pjnns.2013.09.003_bib0005","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1113\/eph8802514","article-title":"Replication and transcription of mammalian mitochondrial DNA","volume":"88","author":"Fernandez-Silva","year":"2003","journal-title":"Exp Physiol"},{"key":"10.1016\/j.pjnns.2013.09.003_bib0010","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1016\/j.nmd.2004.12.008","article-title":"Mitochondrial encephalomyopathies: an update","volume":"5","author":"DiMauro","year":"2005","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.pjnns.2013.09.003_bib0015","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1007\/s00415-009-5028-3","article-title":"Multisystem manifestations of mitochondrial disorders","volume":"256","author":"Di Donato","year":"2009","journal-title":"J Neurol"},{"key":"10.1016\/j.pjnns.2013.09.003_bib0020","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.ymgme.2010.02.024","article-title":"Current molecular diagnostic algorithm for mitochondrial disorders","volume":"100","author":"Wong","year":"2010","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.pjnns.2013.09.003_bib0025","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1007\/s11910-003-0026-9","article-title":"Mitochondrial disorders","volume":"3","author":"Zeviani","year":"2003","journal-title":"Curr Neurol Neurosci Rep"},{"key":"10.1016\/j.pjnns.2013.09.003_bib0030","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1016\/S1474-4422(10)70116-2","article-title":"A neurological perspective on mitochondrial disease","volume":"9","author":"McFarland","year":"2010","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.pjnns.2013.09.003_bib0035","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1006\/mgme.2000.3083","article-title":"The pathophysiology of mitochondrial biogenesis: towards four decades of mitochondrial DNA research","volume":"71","author":"Fernandez-Moreno","year":"2000","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.pjnns.2013.09.003_bib0040","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1111\/j.1600-0404.2006.00777.x","article-title":"Mitochondrial disease: a nosological update","volume":"115","author":"Filosto","year":"2007","journal-title":"Acta Neurol Scand"},{"key":"10.1016\/j.pjnns.2013.09.003_bib0045","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1111\/j.1468-1331.2009.02811.x","article-title":"EFNS guidelines on the molecular diagnosis of mitochondrial disorders","volume":"16","author":"Finsterer","year":"2009","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.pjnns.2013.09.003_bib0050","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.bbabio.2009.09.005","article-title":"Mitochondrial DNA mutations and human disease","volume":"1797","author":"Tuppen","year":"2010","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.pjnns.2013.09.003_bib0055","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1038\/331717a0","article-title":"Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies","volume":"331","author":"Holt","year":"1988","journal-title":"Nature"},{"key":"10.1016\/j.pjnns.2013.09.003_bib0060","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1007\/s10038-008-0289-8","article-title":"Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions","volume":"53","author":"Yamashita","year":"2008","journal-title":"J Hum Genet"},{"key":"10.1016\/j.pjnns.2013.09.003_bib0065","series-title":"The procedure of muscle biopsy. Histological and histochemical stains and reactions. Muscle biopsy. A practical approach","first-page":"3","author":"Dubowitz","year":"2007"},{"key":"10.1016\/j.pjnns.2013.09.003_bib0070","first-page":"216","article-title":"Mitochondrial cytopathies: clinical, morphological and genetic characteristics","volume":"43","author":"Kierdaszuk","year":"2009","journal-title":"Neurol Neurochir Pol"},{"key":"10.1016\/j.pjnns.2013.09.003_bib0075","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1016\/S0076-6879(96)64038-5","article-title":"Detection and quantification of mitochondrial DNA deletions","volume":"264","author":"Soong","year":"1996","journal-title":"Methods Enzymol"},{"key":"10.1016\/j.pjnns.2013.09.003_bib0080","doi-asserted-by":"crossref","first-page":"E74","DOI":"10.1093\/nar\/29.15.e74","article-title":"The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations","volume":"29","author":"Taylor","year":"2001","journal-title":"Nucleic Acids Res"}],"container-title":["Neurologia i Neurochirurgia Polska"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0028384314000140?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0028384314000140?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,1,8]],"date-time":"2019-01-08T10:38:16Z","timestamp":1546943896000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0028384314000140"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"alternative-id":["S0028384314000140"],"URL":"https:\/\/doi.org\/10.1016\/j.pjnns.2013.09.003","relation":{},"ISSN":["0028-3843"],"issn-type":[{"value":"0028-3843","type":"print"}],"subject":[],"published":{"date-parts":[[2014,1]]}}}