{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T13:11:23Z","timestamp":1648818683688},"reference-count":41,"publisher":"Elsevier BV","issue":"1","content-domain":{"domain":["em-consulte.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Pathologie Biologie"],"published-print":{"date-parts":[[2014,2]]},"DOI":"10.1016\/j.patbio.2013.07.013","type":"journal-article","created":{"date-parts":[[2013,9,4]],"date-time":"2013-09-04T04:45:26Z","timestamp":1378269926000},"page":"41-48","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["A mitochondrial implication in a Tunisian patient with Friedreich's ataxia-like"],"prefix":"10.1016","volume":"62","author":[{"given":"M.","family":"Maalej","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Mkaouar-Rebai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Mnif","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Mezghani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Ben Ayed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Chamkha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Abid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Fakhfakh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.patbio.2013.07.013_bib0005","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.bbabio.2009.09.005","article-title":"Mitochondrial DNA mutations and human disease","volume":"1797","author":"Tuppen","year":"2010","journal-title":"Biochim Biophys Acta"},{"issue":"3","key":"10.1016\/j.patbio.2013.07.013_bib0010","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/90058","article-title":"Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria","volume":"28","author":"Spelbrink","year":"2001","journal-title":"Nat Genet"},{"issue":"3","key":"10.1016\/j.patbio.2013.07.013_bib0015","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/90034","article-title":"Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions","volume":"28","author":"Van Goethem","year":"2001","journal-title":"Nat Genet"},{"issue":"4","key":"10.1016\/j.patbio.2013.07.013_bib0020","first-page":"354","article-title":"Clinical and molecular aspects of diseases of mitochondrial DNA instability","volume":"32","author":"Mao","year":"2009","journal-title":"Chang Gung Med J"},{"key":"10.1016\/j.patbio.2013.07.013_bib0025","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1146\/annurev.biochem.72.121801.161455","article-title":"DNA polymerase gamma, the mitochondrial replicase","volume":"73","author":"Kaguni","year":"2004","journal-title":"Annu Rev Biochem"},{"issue":"3","key":"10.1016\/j.patbio.2013.07.013_bib0030","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1086\/444548","article-title":"Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin","volume":"77","author":"Hakonen","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.patbio.2013.07.013_bib0035","doi-asserted-by":"crossref","first-page":"1685","DOI":"10.1093\/brain\/awl097","article-title":"The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26\u00a0cases","volume":"129","author":"Tzoulis","year":"2006","journal-title":"Brain"},{"issue":"6","key":"10.1016\/j.patbio.2013.07.013_bib0040","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1002\/ana.21207","article-title":"Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion","volume":"62","author":"Sarzi","year":"2007","journal-title":"Ann Neurol"},{"issue":"3","key":"10.1016\/j.patbio.2013.07.013_bib0045","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.pediatrneurol.2011.12.006","article-title":"Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing","volume":"46","author":"D\u00fcndar","year":"2012","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.patbio.2013.07.013_bib0210","first-page":"10","article-title":"Novel autosomal recessive c10orf2 mutations causing infantile-onset spinocerebellar ataxia","volume":"303096","author":"Hartley","year":"2012","journal-title":"Case Rep Pediatr"},{"key":"10.1016\/j.patbio.2013.07.013_bib0055","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1093\/brain\/104.3.589","article-title":"Friedreich's ataxia: a clinical and genetic study of 90\u00a0families with an analysis of early diagnosis criteria and intrafamilial clustering of clinical features","volume":"104","author":"Harding","year":"1981","journal-title":"Brain"},{"issue":"1","key":"10.1016\/j.patbio.2013.07.013_bib0060","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmg.37.1.1","article-title":"Friedreich ataxia: an overview","volume":"37","author":"Delatycki","year":"2000","journal-title":"J Med Genet"},{"issue":"5","key":"10.1016\/j.patbio.2013.07.013_bib0065","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/S0887-8994(03)00004-3","article-title":"Friedreich's ataxia","volume":"28","author":"Alper","year":"2003","journal-title":"Pediatr Neurol"},{"issue":"5","key":"10.1016\/j.patbio.2013.07.013_bib0070","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1093\/hmg\/ddm346","article-title":"The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues","volume":"17","author":"Al-Mahdawi","year":"2008","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.patbio.2013.07.013_bib0075","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1056\/NEJM199610173351601","article-title":"Clinical and genetic abnormalities in patients with Friedreich's ataxia","volume":"335","author":"D\u00fcrr","year":"1996","journal-title":"N Engl J Med"},{"key":"10.1016\/j.patbio.2013.07.013_bib0080","doi-asserted-by":"crossref","first-page":"2131","DOI":"10.1093\/brain\/120.12.2131","article-title":"Friedreich's ataxia: revision of phenotype according to molecular genetics","volume":"120","author":"Schols","year":"1997","journal-title":"Brain"},{"issue":"3","key":"10.1016\/j.patbio.2013.07.013_bib0085","first-page":"554","article-title":"The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia","volume":"59","author":"Filla","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.patbio.2013.07.013_bib0090","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1002\/ana.410410518","article-title":"Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion","volume":"41","author":"Montermini","year":"1997","journal-title":"Ann Neurol"},{"key":"10.1016\/j.patbio.2013.07.013_bib0095","first-page":"197","article-title":"Friedreich ataxia: detection of GAA repeat expansions and frataxin point mutations","volume":"126","author":"Pandolfo","year":"2006","journal-title":"Methods Mol Med"},{"issue":"5","key":"10.1016\/j.patbio.2013.07.013_bib0100","first-page":"1251","article-title":"Atypical Friedreich's ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion","volume":"60","author":"Bidichandani","year":"1997","journal-title":"Am J Hum Genet"},{"issue":"4","key":"10.1016\/j.patbio.2013.07.013_bib0105","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s100480050037","article-title":"The correlation of clinical phenotype in Friedreich's ataxia with the site of point mutations in the FRDA gene","volume":"1","author":"Forrest","year":"1998","journal-title":"Neurogenetics"},{"issue":"5","key":"10.1016\/j.patbio.2013.07.013_bib0110","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1002\/(SICI)1096-8628(19981012)79:5<396::AID-AJMG13>3.0.CO;2-M","article-title":"Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies","volume":"79","author":"Bartolo","year":"1998","journal-title":"Am J Med Genet"},{"issue":"8","key":"10.1016\/j.patbio.2013.07.013_bib0115","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1093\/hmg\/9.8.1219","article-title":"Inactivation of the Friedreich's ataxia mouse gene leads to early embryonic lethality without iron accumulation","volume":"9","author":"Cossee","year":"2000","journal-title":"Hum Mol Genet"},{"issue":"4","key":"10.1016\/j.patbio.2013.07.013_bib0120","first-page":"522","article-title":"A simple method for DNA extraction from leukocytes for use in PCR","volume":"13","author":"Lewin","year":"1992","journal-title":"Biotechniques"},{"key":"10.1016\/j.patbio.2013.07.013_bib0125","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1002\/1531-8249(199902)45:2<200::AID-ANA10>3.0.CO;2-U","article-title":"Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes","volume":"45","author":"Cossee","year":"1999","journal-title":"Ann Neurol"},{"issue":"1","key":"10.1016\/j.patbio.2013.07.013_bib0130","doi-asserted-by":"crossref","first-page":"e54791","DOI":"10.1371\/journal.pone.0054791","article-title":"Genetic variations creating microRNA target sites in the FXN 3\u2019-UTR affect frataxin expression in Friedreich's ataxia","volume":"8","author":"Bandiera","year":"2013","journal-title":"PLoS ONE"},{"issue":"2","key":"10.1016\/j.patbio.2013.07.013_bib0135","first-page":"248","article-title":"Length heteroplasmy in the first hypervariable segment of the human mtDNA control region","volume":"57","author":"Bendall","year":"1995","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.patbio.2013.07.013_bib0140","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1086\/301680","article-title":"The GAA triplet-repeat expansion in Friedreich's ataxia interferes with transcription and may be associated with an unusual DNA structure","volume":"62","author":"Bidichandani","year":"1998","journal-title":"Am J Hum Genet"},{"issue":"8","key":"10.1016\/j.patbio.2013.07.013_bib0145","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1093\/hmg\/ddg096","article-title":"Iron use for haeme synthesis is under control of the yeast frataxin homologue (Yfh1)","volume":"12","author":"Lesuisse","year":"2003","journal-title":"Hum Mol Genet"},{"issue":"5681","key":"10.1016\/j.patbio.2013.07.013_bib0150","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1126\/science.1098991","article-title":"Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity","volume":"305","author":"Bulteau","year":"2004","journal-title":"Science"},{"issue":"1","key":"10.1016\/j.patbio.2013.07.013_bib0155","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1002\/mds.23960","article-title":"Dystonia in mitochondrial spinocerebellar ataxia and epilepsy syndrome associated with novel recessive POLG mutations","volume":"27","author":"Hinnell","year":"2012","journal-title":"Mov Disord"},{"issue":"4","key":"10.1016\/j.patbio.2013.07.013_bib0215","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1007\/s12311-012-0378-2","article-title":"Characterizing POLG ataxia: clinics, electrophysiology and imaging","volume":"11","author":"Synofzik","year":"2012","journal-title":"Cerebellum"},{"issue":"20","key":"10.1016\/j.patbio.2013.07.013_bib0165","doi-asserted-by":"crossref","first-page":"2981","DOI":"10.1093\/hmg\/ddi328","article-title":"Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky","volume":"14","author":"Nikali","year":"2005","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.patbio.2013.07.013_bib0170","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.jns.2005.03.012","article-title":"Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia","volume":"233","author":"Calabrese","year":"2005","journal-title":"J Neurol Sci"},{"issue":"1","key":"10.1016\/j.patbio.2013.07.013_bib0175","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1007\/s001250050866","article-title":"A common mitochondrial DNA variant is associated with insulin resistance in adult life","volume":"41","author":"Poulton","year":"1998","journal-title":"Diabetologia"},{"issue":"1","key":"10.1016\/j.patbio.2013.07.013_bib0180","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1210\/jc.2006-0653","article-title":"A common mitochondrial DNA variant and increased body mass index as associated factors for development of type 2 diabetes: additive effects of genetic and environmental factors","volume":"92","author":"Liou","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"10.1016\/j.patbio.2013.07.013_bib0185","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1089\/gtmb.2009.0095","article-title":"The mitochondrial DNA variant 16189T>C is associated with coronary artery disease and myocardial infarction in Saudi Arabs","volume":"14","author":"Abu-Amero","year":"2010","journal-title":"Genet Test Mol Biomarkers"},{"issue":"5","key":"10.1016\/j.patbio.2013.07.013_bib0190","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1186\/1756-0500-5-350","article-title":"Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus","volume":"10","author":"Soini","year":"2012","journal-title":"BMC Res Notes"},{"issue":"11","key":"10.1016\/j.patbio.2013.07.013_bib0195","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1136\/jmg.2010.077552","article-title":"Association between a common mitochondrial DNA D-loop polycytosine variant and alteration of mitochondrial copy number in human peripheral blood cells","volume":"47","author":"Liou","year":"2010","journal-title":"J Med Genet"},{"issue":"6","key":"10.1016\/j.patbio.2013.07.013_bib0200","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1016\/S0960-8966(00)00108-5","article-title":"Mitochondrial impairment of human muscle in Friedreich's ataxia in vivo","volume":"10","author":"Vorgerd","year":"2000","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"10.1016\/j.patbio.2013.07.013_bib0205","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1111\/j.1468-1331.1996.tb00190.x","article-title":"Mitochondrial disorders in degenerative ataxias","volume":"3","author":"Sch\u00f6ls","year":"1996","journal-title":"Eur J Neurol"}],"container-title":["Pathologie Biologie"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0369811413001223?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0369811413001223?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,13]],"date-time":"2018-10-13T12:22:13Z","timestamp":1539433333000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0369811413001223"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2]]},"references-count":41,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["S0369811413001223"],"URL":"https:\/\/doi.org\/10.1016\/j.patbio.2013.07.013","relation":{},"ISSN":["0369-8114"],"issn-type":[{"value":"0369-8114","type":"print"}],"subject":[],"published":{"date-parts":[[2014,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A mitochondrial implication in a Tunisian patient with Friedreich's ataxia-like","name":"articletitle","label":"Article Title"},{"value":"Pathologie Biologie","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.patbio.2013.07.013","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}