{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T20:27:45Z","timestamp":1761596865729},"reference-count":21,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2004,10,1]],"date-time":"2004-10-01T00:00:00Z","timestamp":1096588800000},"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":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2004,10]]},"DOI":"10.1016\/j.jns.2004.07.007","type":"journal-article","created":{"date-parts":[[2004,8,31]],"date-time":"2004-08-31T13:27:23Z","timestamp":1093958843000},"page":"99-103","source":"Crossref","is-referenced-by-count":18,"title":["Childhood neurological presentation of a novel mitochondrial tRNAVal gene mutation"],"prefix":"10.1016","volume":"225","author":[{"given":"Emma L.","family":"Blakely","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"Poulton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Pike","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fenella","family":"Wojnarowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Douglass M.","family":"Turnbull","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"McFarland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert W.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jns.2004.07.007_bib1","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/S1474-4422(02)00159-X","article-title":"The neurology of mitochondrial DNA disease","volume":"1","author":"McFarland","year":"2002","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.jns.2004.07.007_bib2","doi-asserted-by":"crossref","first-page":"2656","DOI":"10.1056\/NEJMra022567","article-title":"Mitochondrial respiratory-chain diseases","volume":"348","author":"DiMauro","year":"2003","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.jns.2004.07.007_bib3","doi-asserted-by":"crossref","first-page":"2277","DOI":"10.1093\/hmg\/10.20.2277","article-title":"Nuclear genetic defects of oxidative phosphorylation","volume":"10","author":"Shoubridge","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.jns.2004.07.007_bib4","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1002\/ajmg.1379","article-title":"Diseases caused by nuclear genes affecting mtDNA stability","volume":"106","author":"Suomalainen","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.jns.2004.07.007_bib5","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1002\/ajmg.1392","article-title":"Mitochondrial DNA mutations in human disease","volume":"106","author":"DiMauro","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.jns.2004.07.007_bib6","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1136\/jmg.40.3.188","article-title":"The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency","volume":"40","author":"Chol","year":"2003","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.jns.2004.07.007_bib7","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1136\/jmg.40.12.896","article-title":"Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency","volume":"40","author":"Lebon","year":"2003","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.jns.2004.07.007_bib8","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1002\/ana.10787","article-title":"De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency","volume":"55","author":"McFarland","year":"2004","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.jns.2004.07.007_bib9","doi-asserted-by":"crossref","DOI":"10.1136\/jmg.2004.020537","article-title":"Mutations of the mitochondrial ND1 gene as a cause of MELAS","author":"Kirby","year":"2004","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.jns.2004.07.007_bib10","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."},{"key":"10.1016\/j.jns.2004.07.007_bib11","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/13779","article-title":"Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA","volume":"23","author":"Andrews","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.jns.2004.07.007_bib12","unstructured":"MITOMAP: A Human Mitochondrial Genome Database (http:\/\/www.mitomap.org), 2004."},{"key":"10.1016\/j.jns.2004.07.007_bib13","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1002\/ana.410430116","article-title":"A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation","volume":"43","author":"Tiranti","year":"1998","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.jns.2004.07.007_bib14","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1002\/ana.410400318","article-title":"MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA","volume":"40","author":"Taylor","year":"1996","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.jns.2004.07.007_bib15","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1212\/WNL.50.1.293","article-title":"A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes","volume":"50","author":"de Coo","year":"1998","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2004.07.007_bib16","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1212\/WNL.49.2.589","article-title":"A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome","volume":"49","author":"Chalmers","year":"1997","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2004.07.007_bib17","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1038\/ng819","article-title":"Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation","volume":"30","author":"McFarland","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.jns.2004.07.007_bib18","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.nmd.2003.12.004","article-title":"The diagnosis of mitochondrial muscle disease","volume":"14","author":"Taylor","year":"2004","journal-title":"Neuromuscul. Dis."},{"key":"10.1016\/j.jns.2004.07.007_bib19","doi-asserted-by":"crossref","first-page":"1786","DOI":"10.1016\/S0735-1097(03)00300-0","article-title":"A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of hypertrophic cardiomyopathy","volume":"41","author":"Taylor","year":"2003","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.jns.2004.07.007_bib20","first-page":"521","article-title":"Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study","volume":"30","author":"Federico","year":"1998","journal-title":"J. Submicrosc. Cytol. Pathol."},{"key":"10.1016\/j.jns.2004.07.007_bib21","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1001\/archderm.130.3.325","article-title":"X-linked dominant ichthyosis with peroxisomal deficiency. An ultrastructural and ultracytochemical study of the Conradi\u2013Hunermann syndrome and its murine homologue, the bare patches mouse","volume":"130","author":"Emami","year":"1994","journal-title":"Arch. Dermatol."}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X04002357?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X04002357?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,2,4]],"date-time":"2019-02-04T10:51:25Z","timestamp":1549277485000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X04002357"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,10]]},"references-count":21,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2004,10]]}},"alternative-id":["S0022510X04002357"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2004.07.007","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2004,10]]}}}