{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:46:06Z","timestamp":1790516766179,"version":"4.1.0"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"8","funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 NS06954"],"award-info":[{"award-number":["R01 NS06954"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,8,1]]},"DOI":"10.1093\/jnen\/nlx047","type":"journal-article","created":{"date-parts":[[2017,7,21]],"date-time":"2017-07-21T13:33:52Z","timestamp":1500644032000},"page":"665-675","source":"Crossref","is-referenced-by-count":10,"title":["Heart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia"],"prefix":"10.1093","volume":"76","author":[{"given":"Alyssa B.","family":"Becker","sequence":"first","affiliation":[{"name":"From the Research Service, Veterans Affairs Medical Center, Albany, New York (ABB, AHK); Department of Pathology, Albany Medical Center, Albany, New York (JQ, AHK); Department of Pathology and Laboratory Medicine, University of Texas Medical Branch, Galveston, Texas (BBG); Department of Pediatrics and Neurology, University of Colorado, Aurora, Colorado (MY); and Centogene, Rostock, Germany (PB)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiang","family":"Qian","sequence":"additional","affiliation":[{"name":"From the Research Service, Veterans Affairs Medical Center, Albany, New York (ABB, AHK); Department of Pathology, Albany Medical Center, Albany, New York (JQ, AHK); Department of Pathology and Laboratory Medicine, University of Texas Medical Branch, Galveston, Texas (BBG); Department of Pediatrics and Neurology, University of Colorado, Aurora, Colorado (MY); and Centogene, Rostock, Germany (PB)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin B.","family":"Gelman","sequence":"additional","affiliation":[{"name":"From the Research Service, Veterans Affairs Medical Center, Albany, New York (ABB, AHK); Department of Pathology, Albany Medical Center, Albany, New York (JQ, AHK); Department of Pathology and Laboratory Medicine, University of Texas Medical Branch, Galveston, Texas (BBG); Department of Pediatrics and Neurology, University of Colorado, Aurora, Colorado (MY); and Centogene, Rostock, Germany (PB)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Yang","sequence":"additional","affiliation":[{"name":"From the Research Service, Veterans Affairs Medical Center, Albany, New York (ABB, AHK); Department of Pathology, Albany Medical Center, Albany, New York (JQ, AHK); Department of Pathology and Laboratory Medicine, University of Texas Medical Branch, Galveston, Texas (BBG); Department of Pediatrics and Neurology, University of Colorado, Aurora, Colorado (MY); and Centogene, Rostock, Germany (PB)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Bauer","sequence":"additional","affiliation":[{"name":"From the Research Service, Veterans Affairs Medical Center, Albany, New York (ABB, AHK); Department of Pathology, Albany Medical Center, Albany, New York (JQ, AHK); Department of Pathology and Laboratory Medicine, University of Texas Medical Branch, Galveston, Texas (BBG); Department of Pediatrics and Neurology, University of Colorado, Aurora, Colorado (MY); and Centogene, Rostock, Germany (PB)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnulf H.","family":"Koeppen","sequence":"additional","affiliation":[{"name":"From the Research Service, Veterans Affairs Medical Center, Albany, New York (ABB, AHK); Department of Pathology, Albany Medical Center, Albany, New York (JQ, AHK); Department of Pathology and Laboratory Medicine, University of Texas Medical Branch, Galveston, Texas (BBG); Department of Pediatrics and Neurology, University of Colorado, Aurora, Colorado (MY); and Centogene, Rostock, Germany (PB)."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2017,7,20]]},"reference":[{"key":"key\n\t\t\t\t20180315051306_nlx047-B1","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"},{"key":"key\n\t\t\t\t20180315051306_nlx047-B2","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1002\/ana.24595","article-title":"Compound heterozygous FXN mutations and clinical outcome in Friedreich ataxia","volume":"79","author":"Galea","year":"2016","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t20180315051306_nlx047-B3","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":"Coss\u00e9e","year":"1999","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t20180315051306_nlx047-B4","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1007\/s004399900201","article-title":"Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients","volume":"106","author":"De Castro","year":"2000","journal-title":"Hum Genet"},{"key":"key\n\t\t\t\t20180315051306_nlx047-B5","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1097\/NEN.0000000000000160","article-title":"Friedreich ataxia: failure of GABA-ergic and glycinergic synaptic transmission in the dentate nucleus","volume":"74","author":"Koeppen","year":"2015","journal-title":"J Neuropathol Exp Neurol"},{"key":"key\n\t\t\t\t20180315051306_nlx047-B6","doi-asserted-by":"crossref","first-page":"e0116396","DOI":"10.1371\/journal.pone.0116396","article-title":"The pathogenesis of cardiomyopathy in Friedreich ataxia","volume":"10","author":"Koeppen","year":"2015","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20180315051306_nlx047-B7","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1186\/s40478-016-0288-5","article-title":"Dorsal root ganglia in Friedreich ataxia: satellite cell proliferation and inflammation","volume":"4","author":"Koeppen","year":"2016","journal-title":"Acta Neuropathol Commun"},{"key":"key\n\t\t\t\t20180315051306_nlx047-B8","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1002\/mds.870130223","article-title":"Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion","volume":"13","author":"Hanna","year":"1998","journal-title":"Mov Disord"},{"key":"key\n\t\t\t\t20180315051306_nlx047-B9","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1017\/S0317167100003498","article-title":"Malaysian siblings with Friedreich ataxia and chorea: a novel deletion in the frataxin gene","volume":"31","author":"Spacey","year":"2004","journal-title":"Can J Neurol Sci"},{"key":"key\n\t\t\t\t20180315051306_nlx047-B10","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1002\/mds.10175","article-title":"Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion","volume":"17","author":"Zhu","year":"2002","journal-title":"Mov Disord"},{"key":"key\n\t\t\t\t20180315051306_nlx047-B11","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1007\/s00401-009-0589-x","article-title":"The dorsal root ganglion in Friedreich's ataxia","volume":"118","author":"Koeppen","year":"2009","journal-title":"Acta Neuropathol"},{"key":"key\n\t\t\t\t20180315051306_nlx047-B12","first-page":"101","article-title":"Friedreich ataxia: hypoplasia of spinal cord and dorsal root ganglia","volume":"76","author":"Koeppen","year":"2017","journal-title":"J Neuropathol Exp Neurol"},{"key":"key\n\t\t\t\t20180315051306_nlx047-B13","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/s00401-010-0675-0","article-title":"Pathology and pathogenesis of sensory neuropathy in Friedreich's ataxia","volume":"120","author":"Morral","year":"2010","journal-title":"Acta Neuropathol"},{"key":"key\n\t\t\t\t20180315051306_nlx047-B14","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1038\/sj.ejhg.5201257","article-title":"Extension of the mutation spectrum in Friedreich\u2019s ataxia: detection of an exon deletion and novel missense mutations","volume":"12","author":"Z\u00fchlke","year":"2004","journal-title":"Eur J Hum Genet"},{"key":"key\n\t\t\t\t20180315051306_nlx047-B15","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jns.2011.01.010","article-title":"Friedreich's ataxia: pathology, pathogenesis, and molecular genetics","volume":"303","author":"Koeppen","year":"2011","journal-title":"J Neurol Sci"}],"container-title":["Journal of Neuropathology &amp; Experimental Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jnen\/article-pdf\/76\/8\/665\/24368997\/nlx047.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,3,15]],"date-time":"2018-03-15T05:14:39Z","timestamp":1521090879000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jnen\/article\/76\/8\/665\/3980048"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7,20]]},"references-count":15,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2017,7,20]]},"published-print":{"date-parts":[[2017,8,1]]}},"URL":"https:\/\/doi.org\/10.1093\/jnen\/nlx047","relation":{},"ISSN":["0022-3069","1554-6578"],"issn-type":[{"value":"0022-3069","type":"print"},{"value":"1554-6578","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2017,8]]},"published":{"date-parts":[[2017,7,20]]}}}