{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T10:03:19Z","timestamp":1780480999211,"version":"3.54.1"},"reference-count":6,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2012,3,17]],"date-time":"2012-03-17T00:00:00Z","timestamp":1331942400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2013,3]]},"DOI":"10.1007\/s10072-012-1013-1","type":"journal-article","created":{"date-parts":[[2012,3,16]],"date-time":"2012-03-16T09:17:04Z","timestamp":1331889424000},"page":"407-408","source":"Crossref","is-referenced-by-count":17,"title":["A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation"],"prefix":"10.1007","volume":"34","author":[{"given":"Enrico","family":"Saracchi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. C.","family":"DiFrancesco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Brighina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Marzorati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. A.","family":"Curt\u00f2","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Lamperti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Carrara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Zeviani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Ferrarese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,3,17]]},"reference":[{"key":"1013_CR1","doi-asserted-by":"crossref","first-page":"6206","DOI":"10.1073\/pnas.91.13.6206","volume":"21","author":"AS Jun","year":"1994","unstructured":"Jun AS, Brown MD, Wallace DC (1994) A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci USA 21:6206\u20136210","journal-title":"Proc Natl Acad Sci USA"},{"key":"1013_CR2","doi-asserted-by":"crossref","first-page":"180","DOI":"10.3346\/jkms.2010.25.1.180","volume":"25","author":"IS Kim","year":"2010","unstructured":"Kim IS, Ki CS, Park KJ (2010) Pediatric-onset dystonia associated with bilateral striatal necrosis and G14459A mutation in a Korean family: a case report. J Korean Med Sci 25:180\u2013184","journal-title":"J Korean Med Sci"},{"key":"1013_CR3","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1128\/MCB.16.3.771","volume":"16","author":"AS Jun","year":"1996","unstructured":"Jun AS, Trounce IA, Brown MD, Shoffner JM, Wallace DC (1996) Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. Mol Cell Biol 16:771\u2013777","journal-title":"Mol Cell Biol"},{"key":"1013_CR4","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1002\/1531-8249(200007)48:1<102::AID-ANA15>3.0.CO;2-M","volume":"48","author":"DM Kirby","year":"2000","unstructured":"Kirby DM, Kahler SG, Freckmann M-L, Reddihough D, Thorburn DR (2000) Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. Ann Neurol 48:102\u2013104","journal-title":"Ann Neurol"},{"issue":"11","key":"1013_CR5","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1186\/1471-2377-11-85","volume":"12","author":"D Ronchi","year":"2011","unstructured":"Ronchi D, Cosi A, Tonduti D, Orcesi S, Bordoni A, Fortunato F, Rizzuti M, Sciacco M, Collotta M, Cagdas S, Capovilla G, Moggio M, Berardinelli A, Veggiotti P, Comi GP (2011) Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report. BMC Neurol 12(11):85","journal-title":"BMC Neurol"},{"key":"1013_CR6","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1002\/ajmg.a.20456","volume":"124A","author":"A Gropman","year":"2004","unstructured":"Gropman A, Chen TJ, Perng CL, Krasnewich D, Chernoff E, Tifft C, Wong LJ (2004) Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation. Am J Med Genet 124A:377\u2013382","journal-title":"Am J Med Genet"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-012-1013-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10072-012-1013-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-012-1013-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T09:19:41Z","timestamp":1559121581000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10072-012-1013-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,3,17]]},"references-count":6,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,3]]}},"alternative-id":["1013"],"URL":"https:\/\/doi.org\/10.1007\/s10072-012-1013-1","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,3,17]]}}}