{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T00:47:35Z","timestamp":1777510055371,"version":"3.51.4"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,5]]},"DOI":"10.1093\/brain\/aws070","type":"journal-article","created":{"date-parts":[[2012,4,6]],"date-time":"2012-04-06T00:49:52Z","timestamp":1333673392000},"page":"1387-1394","source":"Crossref","is-referenced-by-count":192,"title":["Leukoencephalopathy with thalamus and brainstem involvement and high lactate \u2018LTBL\u2019 caused by EARS2 mutations"],"prefix":"10.1093","volume":"135","author":[{"given":"Marjan E.","family":"Steenweg","sequence":"first","affiliation":[]},{"given":"Daniele","family":"Ghezzi","sequence":"additional","affiliation":[]},{"given":"Tobias","family":"Haack","sequence":"additional","affiliation":[]},{"given":"Truus E.M.","family":"Abbink","sequence":"additional","affiliation":[]},{"given":"Diego","family":"Martinelli","sequence":"additional","affiliation":[]},{"given":"Carola G.M.","family":"van Berkel","sequence":"additional","affiliation":[]},{"given":"Annette","family":"Bley","sequence":"additional","affiliation":[]},{"given":"Luisa","family":"Diogo","sequence":"additional","affiliation":[]},{"given":"Eugenio","family":"Grillo","sequence":"additional","affiliation":[]},{"given":"Johann","family":"Te Water Naud\u00e9","sequence":"additional","affiliation":[]},{"given":"Tim M.","family":"Strom","sequence":"additional","affiliation":[]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[]},{"given":"Holger","family":"Prokisch","sequence":"additional","affiliation":[]},{"given":"Marjo S.","family":"van der Knaap","sequence":"additional","affiliation":[]},{"given":"Massimo","family":"Zeviani","sequence":"additional","affiliation":[]}],"member":"286","published-online":{"date-parts":[[2012,4,4]]},"reference":[{"key":"key\n\t\t\t\t20170522100019_aws070-B1","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.ajhg.2010.12.010","article-title":"Mutations in the mitochondrial seryltRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome","volume":"88","author":"Belostotsky","year":"2011","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170522100019_aws070-B2","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.bbabio.2004.09.006","article-title":"Clinical and molecular findings in children with complex I deficiency","volume":"1659","author":"Bugiani","year":"2004","journal-title":"Biochim Biophys Acta"},{"key":"key\n\t\t\t\t20170522100019_aws070-B3","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1086\/521227","article-title":"Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia","volume":"81","author":"Edvardson","year":"2007","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170522100019_aws070-B4","doi-asserted-by":"crossref","DOI":"10.1002\/9780470015902.a0005540.pub2","article-title":"Mitochondrial disorders: nuclear gene mutations","volume-title":"Encyclopedia of Life Sciences (ELS)","author":"Ghezzi","year":"2011"},{"key":"key\n\t\t\t\t20170522100019_aws070-B5","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1016\/j.ajhg.2011.04.006","article-title":"Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy","volume":"88","author":"G\u00f6tz","year":"2011","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170522100019_aws070-B6","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1038\/ng.706","article-title":"Exome sequencing 348 identifies ACAD9 mutations as a cause of complex I deficiency","volume":"42","author":"Haack","year":"2010","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20170522100019_aws070-B7","first-page":"594","article-title":"Needle biopsy of skeletal muscle","volume":"7","author":"Heckmatt","year":"1984","journal-title":"Muscle Nerve"},{"key":"key\n\t\t\t\t20170522100019_aws070-B8","doi-asserted-by":"crossref","first-page":"6543","DOI":"10.1073\/pnas.1103471108","article-title":"Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome","volume":"108","author":"Pierce","year":"2011","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t20170522100019_aws070-B9","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.ajhg.2010.06.001","article-title":"Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia\u2014MLASA syndrome","volume":"87","author":"Riley","year":"2010","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170522100019_aws070-B10","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1016\/j.bbabio.2011.06.010","article-title":"Human diseases with impaired mitochondrial protein synthesis","volume":"1807","author":"R\u00f6tig","year":"2011","journal-title":"Biochim Biophys Acta"},{"key":"key\n\t\t\t\t20170522100019_aws070-B11","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1038\/ng2013","article-title":"Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation","volume":"39","author":"Scheper","year":"2007","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20170522100019_aws070-B12","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/S0076-6879(96)64045-2","article-title":"Cytochemistry and immunocytochemistry of mitochondria in tissue sections","volume":"264","author":"Sciacco","year":"1996","journal-title":"Methods Enzymol"},{"key":"key\n\t\t\t\t20170522100019_aws070-B13","doi-asserted-by":"crossref","DOI":"10.1001\/archneurol.2011.1048","article-title":"Novel infantile-onset leukoencephalopathy with high lactate and slow improvement","author":"Steenweg","year":"2012","journal-title":"Arch Neurol"},{"key":"key\n\t\t\t\t20170522100019_aws070-B14","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1148\/radiology.213.1.r99se01121","article-title":"Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach","volume":"213","author":"Van der Knaap","year":"1999","journal-title":"Radiology"},{"key":"key\n\t\t\t\t20170522100019_aws070-B15","doi-asserted-by":"crossref","first-page":"C125","DOI":"10.1152\/ajpcell.00247.2006","article-title":"Multiparameter metabolic analysis reveals a close link between attenuated mitochondrial bioenergetic function and enhanced glycolysis dependency in human tumor cells","volume":"292","author":"Wu","year":"2007","journal-title":"Am J Physiol Cell Physiol"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/135\/5\/1387\/17348698\/aws070.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,22]],"date-time":"2017-08-22T22:42:52Z","timestamp":1503441772000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article-lookup\/doi\/10.1093\/brain\/aws070"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,4]]},"references-count":15,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2012,4,4]]},"published-print":{"date-parts":[[2012,5]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/aws070","relation":{},"ISSN":["1460-2156","0006-8950"],"issn-type":[{"value":"1460-2156","type":"electronic"},{"value":"0006-8950","type":"print"}],"subject":[],"published":{"date-parts":[[2012,4,4]]}}}