{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T10:13:37Z","timestamp":1694859217777},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2000,3,1]],"date-time":"2000-03-01T00:00:00Z","timestamp":951868800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2000,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We studied six Italian patients harbouring multiple mitochondrial DNA (mtDNA) deletions in order to correlate clinical and molecular features. Earlier age at onset (17 vs 36 years), fewer ragged\u2010red fibres (none vs 35%), and lower proportions of deleted mtDNAs (9 vs 33%) were found in one patient with autosomal recessive inheritance as compared to five with dominant transmission. Our findings add to the features associated with multiple deletions of mtDNA.<\/jats:p>","DOI":"10.1023\/a:1005617916260","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T23:07:17Z","timestamp":1040512037000},"page":"155-161","source":"Crossref","is-referenced-by-count":3,"title":["Multiple mtDNA deletions: Clinical and molecular correlations"],"prefix":"10.1002","volume":"23","author":[{"given":"F. M.","family":"Santorelli","sequence":"first","affiliation":[{"name":"Neurological Institute La Sapienza University  Rome Italy"}]},{"given":"G.","family":"De Joanna","sequence":"additional","affiliation":[{"name":"Department of Neurophysiopathology Federico II University  Naples Italy"}]},{"given":"C.","family":"Casali","sequence":"additional","affiliation":[{"name":"Neurological Institute La Sapienza University  Rome Italy"}]},{"given":"A.","family":"Tessa","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Pisa  Pisa Italy"}]},{"given":"G.","family":"Siciliano","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Pisa  Pisa Italy"}]},{"given":"G. A.","family":"Amabile","sequence":"additional","affiliation":[{"name":"Neurological Institute La Sapienza University  Rome Italy"}]},{"given":"F.","family":"Pierelli","sequence":"additional","affiliation":[{"name":"Istituto Neurologico Mediterraneo di Neuroscienze NEUROMED  Pozzilli Isernia Italy"}]},{"given":"L.","family":"Vilarinho","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics \u2018J. de Magalhaes\u2019  Porto Portugal"}]},{"given":"L.","family":"Santoro","sequence":"additional","affiliation":[{"name":"Department of Neurophysiopathology Federico II University  Naples Italy"}]}],"member":"311","published-online":{"date-parts":[[2000,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.46.5.1329"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.1.99"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.4.721"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.2337\/diab.46.5.920"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.283.5402.689"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410390615"},{"key":"e_1_2_1_8_1","first-page":"A354","article-title":"Clinical, biochemical, and genetic features of patients with multiple mtDNA deletions.","volume":"48","author":"Santorelli FM","year":"1997","journal-title":"Neurology"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)92496-3"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880181115"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1022633912917"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1005617916260","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1005617916260","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T21:26:19Z","timestamp":1694813179000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1005617916260"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,3]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2000,3]]}},"alternative-id":["10.1023\/A:1005617916260"],"URL":"https:\/\/doi.org\/10.1023\/a:1005617916260","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,3]]}}}