{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T15:40:53Z","timestamp":1791214853203,"version":"4.1.0"},"reference-count":21,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurology"],"published-print":{"date-parts":[[2001,4,10]]},"DOI":"10.1212\/wnl.56.7.849","type":"journal-article","created":{"date-parts":[[2012,5,13]],"date-time":"2012-05-13T13:52:19Z","timestamp":1336917139000},"page":"849-855","source":"Crossref","is-referenced-by-count":219,"title":["Familial cerebellar ataxia with muscle coenzyme Q10 deficiency"],"prefix":"10.1212","volume":"56","author":[{"given":"O.","family":"Musumeci","sequence":"first","affiliation":[{"name":"From the Department of Neurology (Drs. Musumeci, Naini, Shanske, De Vivo, Hirano, and DiMauro), Columbia University College of Physicians and Surgeons, New York, NY; Department of Pediatrics (Dr. Slonim and N. Skavin), North Shore University Hospital, Manhasset, NY; Department of Pediatrics (Drs. Krawiecki and Weissman), Emory University, Atlanta, GA; Children\u2019s Hospital (Dr. Tsao), Columbus, OH; and Department of Neurology (Dr. Mendell), Ohio State University, Columbus."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Naini","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Drs. Musumeci, Naini, Shanske, De Vivo, Hirano, and DiMauro), Columbia University College of Physicians and Surgeons, New York, NY; Department of Pediatrics (Dr. Slonim and N. Skavin), North Shore University Hospital, Manhasset, NY; Department of Pediatrics (Drs. Krawiecki and Weissman), Emory University, Atlanta, GA; Children\u2019s Hospital (Dr. Tsao), Columbus, OH; and Department of Neurology (Dr. Mendell), Ohio State University, Columbus."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. E.","family":"Slonim","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Drs. Musumeci, Naini, Shanske, De Vivo, Hirano, and DiMauro), Columbia University College of Physicians and Surgeons, New York, NY; Department of Pediatrics (Dr. Slonim and N. Skavin), North Shore University Hospital, Manhasset, NY; Department of Pediatrics (Drs. Krawiecki and Weissman), Emory University, Atlanta, GA; Children\u2019s Hospital (Dr. Tsao), Columbus, OH; and Department of Neurology (Dr. Mendell), Ohio State University, Columbus."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Skavin","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Drs. Musumeci, Naini, Shanske, De Vivo, Hirano, and DiMauro), Columbia University College of Physicians and Surgeons, New York, NY; Department of Pediatrics (Dr. Slonim and N. Skavin), North Shore University Hospital, Manhasset, NY; Department of Pediatrics (Drs. Krawiecki and Weissman), Emory University, Atlanta, GA; Children\u2019s Hospital (Dr. Tsao), Columbus, OH; and Department of Neurology (Dr. Mendell), Ohio State University, Columbus."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. L.","family":"Hadjigeorgiou","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Drs. Musumeci, Naini, Shanske, De Vivo, Hirano, and DiMauro), Columbia University College of Physicians and Surgeons, New York, NY; Department of Pediatrics (Dr. Slonim and N. Skavin), North Shore University Hospital, Manhasset, NY; Department of Pediatrics (Drs. Krawiecki and Weissman), Emory University, Atlanta, GA; Children\u2019s Hospital (Dr. Tsao), Columbus, OH; and Department of Neurology (Dr. Mendell), Ohio State University, Columbus."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Krawiecki","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Drs. Musumeci, Naini, Shanske, De Vivo, Hirano, and DiMauro), Columbia University College of Physicians and Surgeons, New York, NY; Department of Pediatrics (Dr. Slonim and N. Skavin), North Shore University Hospital, Manhasset, NY; Department of Pediatrics (Drs. Krawiecki and Weissman), Emory University, Atlanta, GA; Children\u2019s Hospital (Dr. Tsao), Columbus, OH; and Department of Neurology (Dr. Mendell), Ohio State University, Columbus."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. M.","family":"Weissman","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Drs. Musumeci, Naini, Shanske, De Vivo, Hirano, and DiMauro), Columbia University College of Physicians and Surgeons, New York, NY; Department of Pediatrics (Dr. Slonim and N. Skavin), North Shore University Hospital, Manhasset, NY; Department of Pediatrics (Drs. Krawiecki and Weissman), Emory University, Atlanta, GA; Children\u2019s Hospital (Dr. Tsao), Columbus, OH; and Department of Neurology (Dr. Mendell), Ohio State University, Columbus."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.-Y.","family":"Tsao","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Drs. Musumeci, Naini, Shanske, De Vivo, Hirano, and DiMauro), Columbia University College of Physicians and Surgeons, New York, NY; Department of Pediatrics (Dr. Slonim and N. Skavin), North Shore University Hospital, Manhasset, NY; Department of Pediatrics (Drs. Krawiecki and Weissman), Emory University, Atlanta, GA; Children\u2019s Hospital (Dr. Tsao), Columbus, OH; and Department of Neurology (Dr. Mendell), Ohio State University, Columbus."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. R.","family":"Mendell","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Drs. Musumeci, Naini, Shanske, De Vivo, Hirano, and DiMauro), Columbia University College of Physicians and Surgeons, New York, NY; Department of Pediatrics (Dr. Slonim and N. Skavin), North Shore University Hospital, Manhasset, NY; Department of Pediatrics (Drs. Krawiecki and Weissman), Emory University, Atlanta, GA; Children\u2019s Hospital (Dr. Tsao), Columbus, OH; and Department of Neurology (Dr. Mendell), Ohio State University, Columbus."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Shanske","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Drs. Musumeci, Naini, Shanske, De Vivo, Hirano, and DiMauro), Columbia University College of Physicians and Surgeons, New York, NY; Department of Pediatrics (Dr. Slonim and N. Skavin), North Shore University Hospital, Manhasset, NY; Department of Pediatrics (Drs. Krawiecki and Weissman), Emory University, Atlanta, GA; Children\u2019s Hospital (Dr. Tsao), Columbus, OH; and Department of Neurology (Dr. Mendell), Ohio State University, Columbus."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. C.","family":"De Vivo","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Drs. Musumeci, Naini, Shanske, De Vivo, Hirano, and DiMauro), Columbia University College of Physicians and Surgeons, New York, NY; Department of Pediatrics (Dr. Slonim and N. Skavin), North Shore University Hospital, Manhasset, NY; Department of Pediatrics (Drs. Krawiecki and Weissman), Emory University, Atlanta, GA; Children\u2019s Hospital (Dr. Tsao), Columbus, OH; and Department of Neurology (Dr. Mendell), Ohio State University, Columbus."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Hirano","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Drs. Musumeci, Naini, Shanske, De Vivo, Hirano, and DiMauro), Columbia University College of Physicians and Surgeons, New York, NY; Department of Pediatrics (Dr. Slonim and N. Skavin), North Shore University Hospital, Manhasset, NY; Department of Pediatrics (Drs. Krawiecki and Weissman), Emory University, Atlanta, GA; Children\u2019s Hospital (Dr. Tsao), Columbus, OH; and Department of Neurology (Dr. Mendell), Ohio State University, Columbus."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"DiMauro","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Drs. Musumeci, Naini, Shanske, De Vivo, Hirano, and DiMauro), Columbia University College of Physicians and Surgeons, New York, NY; Department of Pediatrics (Dr. Slonim and N. Skavin), North Shore University Hospital, Manhasset, NY; Department of Pediatrics (Drs. Krawiecki and Weissman), Emory University, Atlanta, GA; Children\u2019s Hospital (Dr. Tsao), Columbus, OH; and Department of Neurology (Dr. Mendell), Ohio State University, Columbus."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.7.2379"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.46.2.420"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.5.1238"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0083-6729(08)60431-8"},{"key":"e_1_3_2_6_2","first-page":"S66","volume":"71","year":"1993","unstructured":"Lenaz G, Fato R, Castelluccio C, et al. The function of coenzyme Q10 in mitochondria. Clin Invest . 1993; 71: S66\u2013S70.","journal-title":"Clin Invest"},{"key":"e_1_3_2_7_2","unstructured":"Ozawa   T.   Formation of oxygen radicals in the electron transfer chain and antioxidant properties of coenzyme Q.  In:  Lenaz  G ed.  Formation of oxygen radicals in the electron transfer chain and antioxidant properties of coenzyme Q.   Chichester UK:   Wiley 1985;  441\u2013456."},{"key":"e_1_3_2_8_2","first-page":"443","volume":"1","year":"1992","unstructured":"Matsuoka T, Maeda H, Goto Y, Nonaka I. Muscle coenzyme Q10 in mitochondrial encephalomyopathies. Neuromuscul Disord . 1992; 1: 443\u2013447.","journal-title":"Neuromuscul Disord"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(98)00006-9"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410220409"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(86)90203-4"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(96)00231-6"},{"key":"e_1_3_2_13_2","first-page":"S55","volume":"71","year":"1993","unstructured":"Crane FL, Sun IL, Sun EE. The essential functions of coenzyme Q. Clin Invest . 1993; 71: S55\u2013S59.","journal-title":"Clin Invest"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2760(94)90200-3"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)40840-5"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1128\/JB.182.24.6933-6939.2000"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.91.5.915"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02531-9"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0025-6196(11)64217-1"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.56.10.1201"},{"key":"e_1_3_2_21_2","unstructured":"Kane   J Havel   RJ.   Disorder of the biogenesis and secretion of lipoprotein containing the B apolipoproteins.  In:  Scriver  CR Beaudet  AL Sly  WS Valle  D eds.  The metabolic and molecular bases of inherited disease.   New York NY:   McGraw-Hill 1995;  1835\u20131885."},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1086\/301699"}],"container-title":["Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.neurology.org\/doi\/pdfdirect\/10.1212\/WNL.56.7.849","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T16:31:59Z","timestamp":1711643519000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.neurology.org\/doi\/10.1212\/WNL.56.7.849"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,4,10]]},"references-count":21,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2001,4,10]]}},"alternative-id":["10.1212\/WNL.56.7.849"],"URL":"https:\/\/doi.org\/10.1212\/wnl.56.7.849","relation":{},"ISSN":["0028-3878","1526-632X"],"issn-type":[{"value":"0028-3878","type":"print"},{"value":"1526-632X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,4,10]]}}}