{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T02:05:05Z","timestamp":1767665105018},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2004,3,31]],"date-time":"2004-03-31T00:00:00Z","timestamp":1080691200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2004,6]]},"DOI":"10.1038\/sj.ejhg.5201185","type":"journal-article","created":{"date-parts":[[2004,3,31]],"date-time":"2004-03-31T09:22:06Z","timestamp":1080724926000},"page":"509-512","source":"Crossref","is-referenced-by-count":22,"title":["A novel point mutation in the mitochondrial tRNATrp gene produces a neurogastrointestinal syndrome"],"prefix":"10.1038","volume":"12","author":[{"given":"Katharina","family":"Maniura-Weber","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert W","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret A","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zofia","family":"Chrzanowska-Lightowlers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew A M","family":"Morris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles P J","family":"Charlton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Douglass M","family":"Turnbull","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurence A","family":"Bindoff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2004,3,31]]},"reference":[{"issue":"suppl I","key":"BF5201185_CR1","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1016\/S0140-6736(99)90244-1","volume":"354","author":"PF Chinnery","year":"1999","unstructured":"Chinnery PF, Turnbull DM : Mitochondrial DNA and disease. Lancet 1999; 354 (suppl I): 17\u201321.","journal-title":"Lancet"},{"key":"BF5201185_CR2","unstructured":"Mitomap: MITOMAP: A Human Mitochondrial Genome Database, \n                    http:\/\/www.mitomap.org\n                    \n                  , 2003."},{"key":"BF5201185_CR3","first-page":"373","volume":"60","author":"K Weber","year":"1997","unstructured":"Weber K, Wilson JN, Taylor L et al: A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle. Am J Hum Genet 1997; 60: 373\u2013380.","journal-title":"Am J Hum Genet"},{"key":"BF5201185_CR4","doi-asserted-by":"publisher","first-page":"1152","DOI":"10.1086\/339933","volume":"70","author":"C Herrnstadt","year":"2002","unstructured":"Herrnstadt C, Elson JL, Fahy E et al: Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am J Hum Genet 2002; 70: 1152\u20131171.","journal-title":"Am J Hum Genet"},{"key":"BF5201185_CR5","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1002\/ana.410370317","volume":"37","author":"I Nelson","year":"1995","unstructured":"Nelson I, Hanna MG, Alsanjari N, Scaravilli F, Morgan-Hughes JA, Harding AE : A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study. Ann Neurol 1995; 37: 400\u2013403.","journal-title":"Ann Neurol"},{"key":"BF5201185_CR6","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1016\/S0960-8966(98)00037-6","volume":"8","author":"G Silvestri","year":"1998","unstructured":"Silvestri G, Rana M, DiMuzio A, Uncini A, Tonali P, Servidei S : A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNATrp gene. Neuromusc Disord 1998; 8: 291\u2013295.","journal-title":"Neuromusc Disord"},{"key":"BF5201185_CR7","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1002\/ana.410420220","volume":"42","author":"FM Santorelli","year":"1997","unstructured":"Santorelli FM, Tanji K, Sano M et al: Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene. Ann Neurol 1997; 42: 256\u2013260.","journal-title":"Ann Neurol"},{"key":"BF5201185_CR8","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1055\/s-2003-39607","volume":"34","author":"M Tulinius","year":"2003","unstructured":"Tulinius M, Moslemi AR, Darin N et al: Leigh Syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNAtrp gene. Neuropediatrics 2003; 34: 87\u201391.","journal-title":"Neuropediatrics"},{"key":"BF5201185_CR9","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1007\/978-2-8178-0929-8_23","volume-title":"Mitochondrial disorders: from pathophysiology to acquired disorders","author":"L Bindoff","year":"2002","unstructured":"Bindoff L : Mitochondrial dysfunction and the gastrointestinal system; in Desneulle C, DiMauro S (eds): Mitochondrial disorders: from pathophysiology to acquired disorders, Berlin: Springer; 2002, pp 275\u2013285."},{"key":"BF5201185_CR10","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1136\/gut.48.1.121","volume":"48","author":"PF Chinnery","year":"2001","unstructured":"Chinnery PF, Jones S, Sviland L et al: Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract. Gut 2001; 48: 121\u2013124.","journal-title":"Gut"},{"key":"BF5201185_CR11","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1016\/S0022-3476(94)70255-1","volume":"124","author":"V Cormier-Daire","year":"1994","unstructured":"Cormier-Daire V, Bonnefont J-P, Rustin P et al: Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy. J Pediatr 1994; 124: 63\u201370.","journal-title":"J Pediatr"},{"key":"BF5201185_CR12","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1136\/adc.77.1.56","volume":"77","author":"AA Morris","year":"1997","unstructured":"Morris AA, Lamont PJ, Clayton PT : Pearson's syndrome without marrow involvement. Arch Dis Child 1997; 77: 56\u201357.","journal-title":"Arch Dis Child"},{"key":"BF5201185_CR13","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/S0140-6736(95)91251-7","volume":"346","author":"J Hess","year":"1995","unstructured":"Hess J, Burkhard P, Morris M, Lalioti M, Myers P, Hadengue A : Ischaemic colitis due to mitochondrial cytopathy. Lancet 1995; 346: 189\u2013190.","journal-title":"Lancet"},{"key":"BF5201185_CR14","doi-asserted-by":"publisher","first-page":"721","DOI":"10.1212\/WNL.44.4.721","volume":"44","author":"M Hirano","year":"1994","unstructured":"Hirano M, Silvestri G, Blake DM et al: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Neurology 1994; 44: 721\u2013727.","journal-title":"Neurology"},{"key":"BF5201185_CR15","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1126\/science.283.5402.689","volume":"283","author":"I Nishino","year":"1999","unstructured":"Nishino I, Spinazzola A, Hirano M : Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999; 283: 689\u2013692.","journal-title":"Science"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201185.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201185","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201185.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:31:19Z","timestamp":1684373479000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201185"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,3,31]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2004,6]]}},"alternative-id":["BF5201185"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201185","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,3,31]]}}}