{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T16:18:10Z","timestamp":1762100290991},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[1996,1,1]],"date-time":"1996-01-01T00:00:00Z","timestamp":820454400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[1996]]},"DOI":"10.1007\/bf00900496","type":"journal-article","created":{"date-parts":[[2004,12,29]],"date-time":"2004-12-29T13:12:32Z","timestamp":1104325952000},"page":"441-444","source":"Crossref","is-referenced-by-count":23,"title":["The T-C(8356) mitochondrial DNA mutation in a Japanese family"],"prefix":"10.1007","volume":"243","author":[{"given":"Motoki","family":"Sano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matsuko","family":"Ozawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satomi","family":"Shiota","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuka","family":"Momose","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masanobu","family":"Uchigata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-ichi","family":"Goto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"CR1","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1002\/ana.410310408","volume":"31","author":"E Ciafaloni","year":"1992","unstructured":"Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C, Martinuzzi A, Mosewich R, Servidei S, Zammarchi E, Bonilla E, DeVivo DC, Rowland LP, Schon EA, DiMauro S (1992) MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 31: 391?398","journal-title":"Ann Neurol"},{"key":"CR2","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1002\/ana.410170602","volume":"17","author":"S DiMauro","year":"1985","unstructured":"DiMauro S, Bonilla E, Zeviani M, Nakagawa M, De Vivo DC (1985) Mitochondrial myopathies. Ann Neurol 17: 521?538","journal-title":"Ann Neurol"},{"key":"CR3","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/0022-510X(80)90031-3","volume":"47","author":"N Fukuhara","year":"1980","unstructured":"Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T (1980) Myolonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): disease entity or a syndrome? J Neurol Sci 47: 117?133","journal-title":"J Neurol Sci"},{"key":"CR4","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1212\/WNL.42.3.545","volume":"42","author":"Y Goto","year":"1992","unstructured":"Goto Y, Horai S, Matsuoka T, Koga Y, Nihei K, Kobayashi M, Nonaka I (1992) Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. Neurology 42: 545?550","journal-title":"Neurology"},{"key":"CR5","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1002\/ana.410290606","volume":"29","author":"H Hasegawa","year":"1991","unstructured":"Hasegawa H, Matsuoka T, Goto Y, Nonaka I (1991) Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Ann Neurol 29: 601?605","journal-title":"Ann Neurol"},{"key":"CR6","first-page":"1","volume":"2","author":"H Heyck","year":"1969","unstructured":"Heyck H (1969) Pathogenesis of migraine. Res Clin Stud Headache 2: 1?28","journal-title":"Res Clin Stud Headache"},{"key":"CR7","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/BF00688097","volume":"76","author":"Y Koga","year":"1988","unstructured":"Koga Y, Nonaka I, Sunohara N, Yamanaka R, Kumagai K (1988) Variability in the activity of respiratory chain enzymes in mitochondrial myopathies. Acta Neuropathol 76: 135?141","journal-title":"Acta Neuropathol"},{"key":"CR8","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1002\/ana.410260104","volume":"26","author":"A Lombes","year":"1989","unstructured":"Lombes A, Mendell JR, Nakase H, Nakase H, Barohn, RJ, Bonilla E, Zeviani, M, Yates AJ, Omerza J, Gales TL, Nakahara K, Rizzuto R, Engel WK, DiMauro S (1989) Myoclonic epilepsy and ragged-red fibers with cytochrome c oxidase deficiency: neuropathology, biochemistry and molecular genetics. Ann Neurol 26: 20?33","journal-title":"Ann Neurol"},{"key":"CR9","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/ana.410170303","volume":"17","author":"HS Rosing","year":"1985","unstructured":"Rosing HS, Hopkins LC, Wallace DC, Epstein CM, Weidenheim K (1985) Maternally inherited mitochondrial myopathy and myoclonic epilepsy. Ann Neurol 17: 228?237","journal-title":"Ann Neurol"},{"key":"CR10","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1111\/j.1600-0404.1995.tb00487.x","volume":"92","author":"M Sano","year":"1995","unstructured":"Sano M, Ishii K, Momose Y, Uchigata M, Senda M (1995) Cerebral metabolism of oxygen and glucose in a patient with MELAS syndrome. Acta Neurol Scand 92:497?502","journal-title":"Acta Neurol Scand"},{"key":"CR11","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1016\/0092-8674(90)90059-N","volume":"61","author":"JM Shoffner","year":"1990","unstructured":"Shoffner JM, Lott MT, Lezza AMS, Seibel P, Ballinger SW, Wallace DC (1990) Myoclonic epilepsy and raggedred fibers (MERRF) is associated with a mitochondrial DNA tRNALys mutation. Cell 61: 931?937","journal-title":"Cell"},{"key":"CR12","first-page":"1213","volume":"51","author":"G Silvestri","year":"1992","unstructured":"Silvestri G, Moraes CT, Shanske S, Oh SJ, DiMauro S (1992) A new mtDNA mutation in the tRNALys gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 51: 1213?1217","journal-title":"Am J Hum Genet"},{"key":"CR13","first-page":"789","volume":"21","author":"M Yoneda","year":"1990","unstructured":"Yoneda M, Tanno Y, Horai S, Ozawa T, Miyatake T, Tsuji S (1990) A common mitochondrial DNA mutation in the tRNALys of patients with myoclonus epilepsy associated with ragged-red fibers. Biochem Int 21: 789?796","journal-title":"Biochem Int"},{"key":"CR14","first-page":"203","volume":"48","author":"M Zeviani","year":"1991","unstructured":"Zeviani M, Amati P, Bresolin N, Antozzi C, Piccolo G, Toscano A, DiDonato S (1991) Rapid detection of the A-G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 48: 203?211","journal-title":"Am J Hum Genet"},{"key":"CR15","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1159\/000472390","volume":"1","author":"M Zeviani","year":"1993","unstructured":"Zeviani M, Muntoni F, Savarese N Serra G, Tiranti V, Carrara F, Mariotti C, DiDonato S (1993) A MERRF\/ MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNALys gene. Eur J Hum Genet 1: 80?87","journal-title":"Eur J Hum Genet"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00900496.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00900496\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00900496","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,29]],"date-time":"2019-04-29T16:16:46Z","timestamp":1556554606000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00900496"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1996]]}},"alternative-id":["BF00900496"],"URL":"https:\/\/doi.org\/10.1007\/bf00900496","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996]]}}}