{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T18:36:57Z","timestamp":1766428617745},"reference-count":35,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurology"],"published-print":{"date-parts":[[2002,1,22]]},"DOI":"10.1212\/wnl.58.2.231","type":"journal-article","created":{"date-parts":[[2012,5,13]],"date-time":"2012-05-13T13:59:10Z","timestamp":1336917550000},"page":"231-236","source":"Crossref","is-referenced-by-count":36,"title":["Genetic identity of Marinesco\u2013Sjo\u0308gren\/myoglobinuria and CCFDN syndromes"],"prefix":"10.1212","volume":"58","author":[{"given":"L.","family":"Merlini","sequence":"first","affiliation":[{"name":"From the Neuromuscular Unit (Drs. Merlini and Talim), Istituto Ortopedico Rizzoli, Bologna, Italy; Centre for Human Genetics, Edith Cowan University (Drs. Angelicheva and Kalaydjieva, and R. Gooding), Western Australian Institute for Medical Research (Dr. Kalaydjieva), Perth, Australia; Genzentrum (Dr. Lochmu\u0308ller) and Friedrich-Baur Institut (Drs. Lochmu\u0308ller, Mu\u0308ller\u2013Felber, and Walter), Ludwig-Maximilians-Universita\u0308t, Mu\u0308nchen, Germany; and Department of Psychiatry and Behavioral Sciences (Dr...."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Gooding","sequence":"additional","affiliation":[{"name":"From the Neuromuscular Unit (Drs. Merlini and Talim), Istituto Ortopedico Rizzoli, Bologna, Italy; Centre for Human Genetics, Edith Cowan University (Drs. Angelicheva and Kalaydjieva, and R. Gooding), Western Australian Institute for Medical Research (Dr. Kalaydjieva), Perth, Australia; Genzentrum (Dr. Lochmu\u0308ller) and Friedrich-Baur Institut (Drs. Lochmu\u0308ller, Mu\u0308ller\u2013Felber, and Walter), Ludwig-Maximilians-Universita\u0308t, Mu\u0308nchen, Germany; and Department of Psychiatry and Behavioral Sciences (Dr...."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Lochmu\u0308ller","sequence":"additional","affiliation":[{"name":"From the Neuromuscular Unit (Drs. Merlini and Talim), Istituto Ortopedico Rizzoli, Bologna, Italy; Centre for Human Genetics, Edith Cowan University (Drs. Angelicheva and Kalaydjieva, and R. Gooding), Western Australian Institute for Medical Research (Dr. Kalaydjieva), Perth, Australia; Genzentrum (Dr. Lochmu\u0308ller) and Friedrich-Baur Institut (Drs. Lochmu\u0308ller, Mu\u0308ller\u2013Felber, and Walter), Ludwig-Maximilians-Universita\u0308t, Mu\u0308nchen, Germany; and Department of Psychiatry and Behavioral Sciences (Dr...."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Mu\u0308ller\u2013Felber","sequence":"additional","affiliation":[{"name":"From the Neuromuscular Unit (Drs. Merlini and Talim), Istituto Ortopedico Rizzoli, Bologna, Italy; Centre for Human Genetics, Edith Cowan University (Drs. Angelicheva and Kalaydjieva, and R. Gooding), Western Australian Institute for Medical Research (Dr. Kalaydjieva), Perth, Australia; Genzentrum (Dr. Lochmu\u0308ller) and Friedrich-Baur Institut (Drs. Lochmu\u0308ller, Mu\u0308ller\u2013Felber, and Walter), Ludwig-Maximilians-Universita\u0308t, Mu\u0308nchen, Germany; and Department of Psychiatry and Behavioral Sciences (Dr...."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.C.","family":"Walter","sequence":"additional","affiliation":[{"name":"From the Neuromuscular Unit (Drs. Merlini and Talim), Istituto Ortopedico Rizzoli, Bologna, Italy; Centre for Human Genetics, Edith Cowan University (Drs. Angelicheva and Kalaydjieva, and R. Gooding), Western Australian Institute for Medical Research (Dr. Kalaydjieva), Perth, Australia; Genzentrum (Dr. Lochmu\u0308ller) and Friedrich-Baur Institut (Drs. Lochmu\u0308ller, Mu\u0308ller\u2013Felber, and Walter), Ludwig-Maximilians-Universita\u0308t, Mu\u0308nchen, Germany; and Department of Psychiatry and Behavioral Sciences (Dr...."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Angelicheva","sequence":"additional","affiliation":[{"name":"From the Neuromuscular Unit (Drs. Merlini and Talim), Istituto Ortopedico Rizzoli, Bologna, Italy; Centre for Human Genetics, Edith Cowan University (Drs. Angelicheva and Kalaydjieva, and R. Gooding), Western Australian Institute for Medical Research (Dr. Kalaydjieva), Perth, Australia; Genzentrum (Dr. Lochmu\u0308ller) and Friedrich-Baur Institut (Drs. Lochmu\u0308ller, Mu\u0308ller\u2013Felber, and Walter), Ludwig-Maximilians-Universita\u0308t, Mu\u0308nchen, Germany; and Department of Psychiatry and Behavioral Sciences (Dr...."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Talim","sequence":"additional","affiliation":[{"name":"From the Neuromuscular Unit (Drs. Merlini and Talim), Istituto Ortopedico Rizzoli, Bologna, Italy; Centre for Human Genetics, Edith Cowan University (Drs. Angelicheva and Kalaydjieva, and R. Gooding), Western Australian Institute for Medical Research (Dr. Kalaydjieva), Perth, Australia; Genzentrum (Dr. Lochmu\u0308ller) and Friedrich-Baur Institut (Drs. Lochmu\u0308ller, Mu\u0308ller\u2013Felber, and Walter), Ludwig-Maximilians-Universita\u0308t, Mu\u0308nchen, Germany; and Department of Psychiatry and Behavioral Sciences (Dr...."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Hallmayer","sequence":"additional","affiliation":[{"name":"From the Neuromuscular Unit (Drs. Merlini and Talim), Istituto Ortopedico Rizzoli, Bologna, Italy; Centre for Human Genetics, Edith Cowan University (Drs. Angelicheva and Kalaydjieva, and R. Gooding), Western Australian Institute for Medical Research (Dr. Kalaydjieva), Perth, Australia; Genzentrum (Dr. Lochmu\u0308ller) and Friedrich-Baur Institut (Drs. Lochmu\u0308ller, Mu\u0308ller\u2013Felber, and Walter), Ludwig-Maximilians-Universita\u0308t, Mu\u0308nchen, Germany; and Department of Psychiatry and Behavioral Sciences (Dr...."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Kalaydjieva","sequence":"additional","affiliation":[{"name":"From the Neuromuscular Unit (Drs. Merlini and Talim), Istituto Ortopedico Rizzoli, Bologna, Italy; Centre for Human Genetics, Edith Cowan University (Drs. Angelicheva and Kalaydjieva, and R. Gooding), Western Australian Institute for Medical Research (Dr. Kalaydjieva), Perth, Australia; Genzentrum (Dr. Lochmu\u0308ller) and Friedrich-Baur Institut (Drs. Lochmu\u0308ller, Mu\u0308ller\u2013Felber, and Walter), Ludwig-Maximilians-Universita\u0308t, Mu\u0308nchen, Germany; and Department of Psychiatry and Behavioral Sciences (Dr...."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"e_1_3_2_2_2","first-page":"97","volume":"26","year":"1931","unstructured":"Marinesco G, Draganesco S, Vasiliu D. Nouvelle maladie familiale caracteris\u00e9e par une cataracte cong\u00e9nitale et un arret du d\u00e9veloppement somato-neuro-psychique. Encephale . 1931; 26: 97\u2013109.","journal-title":"Encephale"},{"key":"e_1_3_2_3_2","first-page":"293","volume":"10","year":"1950","unstructured":"Sj\u00f6gren T. Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia. Confinia Neurol . 1950; 10: 293\u2013308.","journal-title":"Confinia Neurol"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(89)90010-5"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410240416"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1159\/000116305"},{"key":"e_1_3_2_7_2","first-page":"154","volume":"35","year":"1991","unstructured":"Torbergsen T, Aasly J, Borud O, Lindal S, Mellgren SI. Mitochondrial myopathy in Marinesco-Sj\u00f6gren syndrome. J Ment Defic Res (Monogr Ser) . 1991; 35: 154\u2013159.","journal-title":"J Ment Defic Res (Monogr Ser)"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1159\/000115563"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(81)80069-1"},{"key":"e_1_3_2_10_2","first-page":"326","volume":"20","year":"1980","unstructured":"Yamanaga H, Ideta T, Okajima T, Morimoto K, Nagaki J. [Marinesco-Sj\u00f6gren syndrome associated with peripheral nerve involvement\u2014report of three cases in a family (author\u2019s translation)]. Rinsho Shinkeigaku . 1980; 20: 326\u2013332.","journal-title":"Rinsho Shinkeigaku"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199906)45:6<742::AID-ANA8>3.0.CO;2-N"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200319"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-973542"},{"key":"e_1_3_2_14_2","first-page":"1347","volume":"58","year":"1996","unstructured":"Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet . 1996; 58: 1347\u20131363.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/0163-4453(90)94077-D"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s100720050056"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1052473"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.35.3.415"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1071368"},{"key":"e_1_3_2_20_2","first-page":"1603.","volume":"338","year":"1991","unstructured":"Walther JU, Zafiriou D, Jensen M. Malignant hyperthermia and Marinesco-Sj\u00f6gren syndrome. Lancet . 1991; 338: 1603.","journal-title":"Lancet"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1990.00530110101025"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215100115385"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1996.tb12103.x"},{"key":"e_1_3_2_24_2","first-page":"901","volume":"51","year":"1968","unstructured":"Alter M, Kennedy W. The Marinesco-Sj\u00f6gren syndrome. Hereditary cerebello-lental degeneration with mental retardation. Minn Med . 1968; 51: 901\u2013906.","journal-title":"Minn Med"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(93)90114-R"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.3109\/13816819309087616"},{"key":"e_1_3_2_27_2","first-page":"281","volume":"19","year":"1998","unstructured":"Georgy BA, Snow RD, Brogdon BG, Wertelecki W. Neuroradiologic findings in Marinesco-Sj\u00f6gren syndrome. Am J Neuroradiol . 1998; 19: 281\u2013283.","journal-title":"Am J Neuroradiol"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01570.x"},{"key":"e_1_3_2_29_2","first-page":"197","volume":"14","year":"1965","unstructured":"Todorov A. Le syndrome de Marinesco-Sj\u00f6gren. Premi\u00e8re \u00e9tude anatomo-clinique. J G\u00e9n\u00e9t Hum . 1965; 14: 197\u2013233.","journal-title":"J G\u00e9n\u00e9t Hum"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/95.4.675"},{"key":"e_1_3_2_31_2","first-page":"257","volume":"51","year":"1972","unstructured":"Nyberg-Hansen R, Gr\u00f6nvik O. Hereditary cerebellar ataxia associated with congenital cataracts. Four cases of the Marinesco-Sj\u00f6gren syndrome with some unusual features. Acta Neurol Scand Suppl . 1972; 51: 257\u2013260.","journal-title":"Acta Neurol Scand Suppl"},{"key":"e_1_3_2_32_2","first-page":"387","volume":"96","year":"1997","unstructured":"Farah S, Sabry MA, Khuraibet AJ, et al. Marinesco-Sj\u00f6gren syndrome in a Bedouin family. Acta Neurol Scand . 1997; 96: 387\u2013391.","journal-title":"Acta Neurol Scand"},{"key":"e_1_3_2_33_2","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(95)00088-7"},{"key":"e_1_3_2_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(96)83273-5"},{"key":"e_1_3_2_35_2","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(91)90049-Q"},{"key":"e_1_3_2_36_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00308914"}],"container-title":["Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.neurology.org\/doi\/pdfdirect\/10.1212\/WNL.58.2.231","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T17:31:17Z","timestamp":1711647077000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.neurology.org\/doi\/10.1212\/WNL.58.2.231"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,1,22]]},"references-count":35,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2002,1,22]]}},"alternative-id":["10.1212\/WNL.58.2.231"],"URL":"https:\/\/doi.org\/10.1212\/wnl.58.2.231","relation":{},"ISSN":["0028-3878","1526-632X"],"issn-type":[{"value":"0028-3878","type":"print"},{"value":"1526-632X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,1,22]]}}}