{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T06:04:32Z","timestamp":1760853872910},"reference-count":8,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,9]]},"DOI":"10.1097\/cnd.0000000000000086","type":"journal-article","created":{"date-parts":[[2015,8,22]],"date-time":"2015-08-22T14:35:30Z","timestamp":1440254130000},"page":"13-17","source":"Crossref","is-referenced-by-count":6,"title":["Atypical Presentation for Friedreich Ataxia in a Child"],"prefix":"10.1097","volume":"17","author":[{"given":"Elena","family":"Caron","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dennis","family":"Burns","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Castro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan T.","family":"Iannaccone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-3-20210126","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1177\/0883073812448230","article-title":"Clinical features of Friedreich ataxia.","volume":"27","author":"Delatycki","year":"2012","journal-title":"J Child Neurol"},{"key":"R2-3-20210126","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":". Friedreichs ataxia: point mutations and clinical presentation of compound heterozygotes.","volume":"45","author":"Cossee","year":"1999","journal-title":"Ann Neurol"},{"key":"R3-3-20210126","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1126\/science.271.5254.1423","article-title":"Friedreichs ataxia: autosomal recessive disease caused by and intronic GAA triplet repeat expansion.","volume":"271","author":"Campuzano","year":"1996","journal-title":"Science"},{"key":"R4-3-20210126","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1056\/NEJM199610173351601","article-title":"Clinical and genetic abnormalities in patients with Friedreichs ataxia.","volume":"335","author":"Durr","year":"1996","journal-title":"N Engl J Med"},{"key":"R5-3-20210126","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1177\/0883073812448440","article-title":". Novel diagnostic paradigms for Friedreich ataxia.","volume":"27","author":"Brigatti","year":"2012","journal-title":"J Child Neurol"},{"issue":"suppl l","key":"R6-3-20210126","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1111\/jnc.12317","article-title":". Clinical features of Friedreichs ataxia: classical and atypical phenotypes.","volume":"126","author":"Parkinson","year":"2013","journal-title":"J Neurochem"},{"key":"R7-3-20210126","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1001\/archneur.59.2.296","article-title":"Intrafamilial phenotypic variability in Friedreich ataxia associated with a G130V mutation in the FRDA gene.","volume":"59","author":"McCabe","year":"2002","journal-title":"Arch Neurol"},{"key":"R9-3-20210126","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 Friedreichs ataxia patient: implications for diagnosis and carrier studies.","volume":"79","author":"Bartolo","year":"1998","journal-title":"Am J Med Genet"}],"container-title":["Journal of Clinical Neuromuscular Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/CND.0000000000000086","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,24]],"date-time":"2021-05-24T20:25:05Z","timestamp":1621887905000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00131402-201509000-00003"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015]]}},"URL":"https:\/\/doi.org\/10.1097\/cnd.0000000000000086","relation":{},"ISSN":["1522-0443"],"issn-type":[{"value":"1522-0443","type":"print"}],"subject":[],"published":{"date-parts":[[2015,9]]}}}