{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:16:05Z","timestamp":1789179365519,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2009,6,22]],"date-time":"2009-06-22T00:00:00Z","timestamp":1245628800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2009,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Four patients, aged 7\u201320 years, suffered from recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. Using homozygosity mapping, a pathogenic missense mutation in the <jats:italic>SLC25A19<\/jats:italic> gene that encodes the mitochondrial thiamine pyrophosphate transporter was identified. An <jats:italic>SLC25A19<\/jats:italic> mutation was previously reported in Amish congenital lethal microcephaly but the present patients' phenotype is markedly different, with normal head circumference, normal early childhood development, age\u2010appropriate cognitive skills, and normal urinary organic acid profile. Determination of the <jats:italic>SLC25A19<\/jats:italic> sequence should be considered in patients with bilateral striatal necrosis and progressive polyneuropathy. Ann Neurol 2009;66:419\u2013424<\/jats:p>","DOI":"10.1002\/ana.21752","type":"journal-article","created":{"date-parts":[[2009,6,22]],"date-time":"2009-06-22T16:38:48Z","timestamp":1245688728000},"page":"419-424","source":"Crossref","is-referenced-by-count":81,"title":["<i>SLC25A19<\/i> mutation as a cause of neuropathy and bilateral striatal necrosis"],"prefix":"10.1002","volume":"66","author":[{"given":"Ronen","family":"Spiegel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avraham","family":"Shaag","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Edvardson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Mandel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Polina","family":"Stepensky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stavit A.","family":"Shalev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoseph","family":"Horovitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ophry","family":"Pines","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orly","family":"Elpeleg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,10]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410120403"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807304194"},{"key":"e_1_2_6_4_2","first-page":"852","article-title":"Heteroplasmic mtDNA mutation (T\u2010to\u2010G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high","volume":"50","author":"Tatuch Y","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.20008"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.59.5.866"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/mrdd.1022"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa020817"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/121.7.1267"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20902"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1086\/521227"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2008.06.016"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0607661103"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/cdf583"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.18.10039"},{"key":"e_1_2_6_16_2","first-page":"381","volume-title":"Modern nutrition in health and disease","author":"Tanphaichitr V","year":"1999"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng948"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10529"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.21752","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.21752","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T03:20:31Z","timestamp":1697512831000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.21752"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,9]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,9]]}},"alternative-id":["10.1002\/ana.21752"],"URL":"https:\/\/doi.org\/10.1002\/ana.21752","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,9]]}}}