{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T09:45:36Z","timestamp":1791279936635,"version":"4.1.0"},"reference-count":40,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurology"],"published-print":{"date-parts":[[2012,2,21]]},"DOI":"10.1212\/wnl.0b013e318247ca69","type":"journal-article","created":{"date-parts":[[2012,2,9]],"date-time":"2012-02-09T12:14:19Z","timestamp":1328789659000},"page":"551-556","source":"Crossref","is-referenced-by-count":12,"title":["Genotype-phenotype relationship in 2 SMA III patients with novel mutations in the Tudor domain"],"prefix":"10.1212","volume":"78","author":[{"given":"M.J.","family":"Fraidakis","sequence":"first","affiliation":[{"name":"From the Departments of Neurology (M.J.F., P.F.P., V.M., F.S.), Electrophysiology (T.M.), and Neurogenetics (M.J.F.), H\u00f4pital de la Salp\u00eatri\u00e8re, Groupement Hospitalier Universitaire Est Piti\u00e9-Salp\u00eatri\u00e8re, Paris; and Department of Molecular Genetics (S.D., B.G.), H\u00f4pital Robert Debr\u00e9, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Drunat","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (M.J.F., P.F.P., V.M., F.S.), Electrophysiology (T.M.), and Neurogenetics (M.J.F.), H\u00f4pital de la Salp\u00eatri\u00e8re, Groupement Hospitalier Universitaire Est Piti\u00e9-Salp\u00eatri\u00e8re, Paris; and Department of Molecular Genetics (S.D., B.G.), H\u00f4pital Robert Debr\u00e9, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Maisonobe","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (M.J.F., P.F.P., V.M., F.S.), Electrophysiology (T.M.), and Neurogenetics (M.J.F.), H\u00f4pital de la Salp\u00eatri\u00e8re, Groupement Hospitalier Universitaire Est Piti\u00e9-Salp\u00eatri\u00e8re, Paris; and Department of Molecular Genetics (S.D., B.G.), H\u00f4pital Robert Debr\u00e9, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Gerard","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (M.J.F., P.F.P., V.M., F.S.), Electrophysiology (T.M.), and Neurogenetics (M.J.F.), H\u00f4pital de la Salp\u00eatri\u00e8re, Groupement Hospitalier Universitaire Est Piti\u00e9-Salp\u00eatri\u00e8re, Paris; and Department of Molecular Genetics (S.D., B.G.), H\u00f4pital Robert Debr\u00e9, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.F.","family":"Pradat","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (M.J.F., P.F.P., V.M., F.S.), Electrophysiology (T.M.), and Neurogenetics (M.J.F.), H\u00f4pital de la Salp\u00eatri\u00e8re, Groupement Hospitalier Universitaire Est Piti\u00e9-Salp\u00eatri\u00e8re, Paris; and Department of Molecular Genetics (S.D., B.G.), H\u00f4pital Robert Debr\u00e9, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Meininger","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (M.J.F., P.F.P., V.M., F.S.), Electrophysiology (T.M.), and Neurogenetics (M.J.F.), H\u00f4pital de la Salp\u00eatri\u00e8re, Groupement Hospitalier Universitaire Est Piti\u00e9-Salp\u00eatri\u00e8re, Paris; and Department of Molecular Genetics (S.D., B.G.), H\u00f4pital Robert Debr\u00e9, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Salachas","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (M.J.F., P.F.P., V.M., F.S.), Electrophysiology (T.M.), and Neurogenetics (M.J.F.), H\u00f4pital de la Salp\u00eatri\u00e8re, Groupement Hospitalier Universitaire Est Piti\u00e9-Salp\u00eatri\u00e8re, Paris; and Department of Molecular Genetics (S.D., B.G.), H\u00f4pital Robert Debr\u00e9, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)60921-6"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-008-0929-0"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.9.1017"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0147"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.7.1177"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200201000-00004"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1086\/338627"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-002-0811-4"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(01)00574-3"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21832"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807305668"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1086\/302160"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0681-y"},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.5.821"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200346"},{"key":"e_1_3_4_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100497"},{"key":"e_1_3_4_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200599"},{"key":"e_1_3_4_20_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000132634.48815.13"},{"key":"e_1_3_4_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20111"},{"key":"e_1_3_4_22_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-006-0410-x"},{"key":"e_1_3_4_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.03.003"},{"key":"e_1_3_4_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)90732-7"},{"key":"e_1_3_4_25_2","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200009)16:3<253::AID-HUMU8>3.0.CO;2-8"},{"key":"e_1_3_4_26_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10221"},{"key":"e_1_3_4_27_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20092"},{"key":"e_1_3_4_28_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.13.2351"},{"key":"e_1_3_4_29_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M106161200"},{"key":"e_1_3_4_30_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21350"},{"key":"e_1_3_4_31_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.08.002"},{"key":"e_1_3_4_32_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200957"},{"key":"e_1_3_4_33_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.3.333"},{"key":"e_1_3_4_34_2","first-page":"805","article-title":"Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy","volume":"57","author":"Cobben JM","year":"1995","unstructured":"Cobben JM, van der Steege G, Grootscholten P, de Visser M, Scheffer H, Buys CH . Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 1995; 57: 805\u2013 808.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_4_35_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.41"},{"key":"e_1_3_4_36_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2007.10.012"},{"key":"e_1_3_4_37_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp157"},{"key":"e_1_3_4_38_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1207"},{"key":"e_1_3_4_39_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0700343104"},{"key":"e_1_3_4_40_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm276"},{"key":"e_1_3_4_41_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21173"}],"container-title":["Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.neurology.org\/doi\/pdfdirect\/10.1212\/WNL.0b013e318247ca69","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T13:38:07Z","timestamp":1711633087000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.neurology.org\/doi\/10.1212\/WNL.0b013e318247ca69"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2,21]]},"references-count":40,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2012,2,21]]}},"alternative-id":["10.1212\/WNL.0b013e318247ca69"],"URL":"https:\/\/doi.org\/10.1212\/wnl.0b013e318247ca69","relation":{},"ISSN":["0028-3878","1526-632X"],"issn-type":[{"value":"0028-3878","type":"print"},{"value":"1526-632X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,2,21]]}}}