{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T19:11:22Z","timestamp":1769454682302,"version":"3.49.0"},"reference-count":27,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurology"],"published-print":{"date-parts":[[2000,8,8]]},"DOI":"10.1212\/wnl.55.3.341","type":"journal-article","created":{"date-parts":[[2012,5,13]],"date-time":"2012-05-13T13:47:48Z","timestamp":1336916868000},"page":"341-346","source":"Crossref","is-referenced-by-count":96,"title":["Mutation spectrum and predicted function of laforin in Lafora\u2019s progressive myoclonus epilepsy"],"prefix":"10.1212","volume":"55","author":[{"given":"B.A.","family":"Minassian","sequence":"first","affiliation":[{"name":"From the Division of NeurologyDepartment of Paediatrics (Dr. Minassian), and Bioinformatics Supercomputing Centre (M. Meloche), Department of Genetics (Drs. Minassian, Ianzano, and Scherer), The Hospital for Sick Children, Toronto; The University of Toronto (Drs. Minassian, Ianzano, and Scherer); Neurogenetics Unit, Montreal Neurological Institute (Dr. Andermann), and McGill University (Drs. Andermann and Rouleau), Quebec; Center for Research in Neuroscience (Dr. Rouleau), Montreal General Hospital..."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Ianzano","sequence":"additional","affiliation":[{"name":"From the Division of NeurologyDepartment of Paediatrics (Dr. Minassian), and Bioinformatics Supercomputing Centre (M. Meloche), Department of Genetics (Drs. Minassian, Ianzano, and Scherer), The Hospital for Sick Children, Toronto; The University of Toronto (Drs. Minassian, Ianzano, and Scherer); Neurogenetics Unit, Montreal Neurological Institute (Dr. Andermann), and McGill University (Drs. Andermann and Rouleau), Quebec; Center for Research in Neuroscience (Dr. Rouleau), Montreal General Hospital..."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Meloche","sequence":"additional","affiliation":[{"name":"From the Division of NeurologyDepartment of Paediatrics (Dr. Minassian), and Bioinformatics Supercomputing Centre (M. Meloche), Department of Genetics (Drs. Minassian, Ianzano, and Scherer), The Hospital for Sick Children, Toronto; The University of Toronto (Drs. Minassian, Ianzano, and Scherer); Neurogenetics Unit, Montreal Neurological Institute (Dr. Andermann), and McGill University (Drs. Andermann and Rouleau), Quebec; Center for Research in Neuroscience (Dr. Rouleau), Montreal General Hospital..."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Andermann","sequence":"additional","affiliation":[{"name":"From the Division of NeurologyDepartment of Paediatrics (Dr. Minassian), and Bioinformatics Supercomputing Centre (M. Meloche), Department of Genetics (Drs. Minassian, Ianzano, and Scherer), The Hospital for Sick Children, Toronto; The University of Toronto (Drs. Minassian, Ianzano, and Scherer); Neurogenetics Unit, Montreal Neurological Institute (Dr. Andermann), and McGill University (Drs. Andermann and Rouleau), Quebec; Center for Research in Neuroscience (Dr. Rouleau), Montreal General Hospital..."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.A.","family":"Rouleau","sequence":"additional","affiliation":[{"name":"From the Division of NeurologyDepartment of Paediatrics (Dr. Minassian), and Bioinformatics Supercomputing Centre (M. Meloche), Department of Genetics (Drs. Minassian, Ianzano, and Scherer), The Hospital for Sick Children, Toronto; The University of Toronto (Drs. Minassian, Ianzano, and Scherer); Neurogenetics Unit, Montreal Neurological Institute (Dr. Andermann), and McGill University (Drs. Andermann and Rouleau), Quebec; Center for Research in Neuroscience (Dr. Rouleau), Montreal General Hospital..."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.V.","family":"Delgado-Escueta","sequence":"additional","affiliation":[{"name":"From the Division of NeurologyDepartment of Paediatrics (Dr. Minassian), and Bioinformatics Supercomputing Centre (M. Meloche), Department of Genetics (Drs. Minassian, Ianzano, and Scherer), The Hospital for Sick Children, Toronto; The University of Toronto (Drs. Minassian, Ianzano, and Scherer); Neurogenetics Unit, Montreal Neurological Institute (Dr. Andermann), and McGill University (Drs. Andermann and Rouleau), Quebec; Center for Research in Neuroscience (Dr. Rouleau), Montreal General Hospital..."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.W.","family":"Scherer","sequence":"additional","affiliation":[{"name":"From the Division of NeurologyDepartment of Paediatrics (Dr. Minassian), and Bioinformatics Supercomputing Centre (M. Meloche), Department of Genetics (Drs. Minassian, Ianzano, and Scherer), The Hospital for Sick Children, Toronto; The University of Toronto (Drs. Minassian, Ianzano, and Scherer); Neurogenetics Unit, Montreal Neurological Institute (Dr. Andermann), and McGill University (Drs. Andermann and Rouleau), Quebec; Center for Research in Neuroscience (Dr. Rouleau), Montreal General Hospital..."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"e_1_3_2_2_2","first-page":"173","volume":"12","year":"1965","unstructured":"Schwarz GA, Yanoff M. Lafora\u2019s disease; distinct clinico-pathologic form of Unverricht\u2019s syndrome. Arch Neurol 1965;12:173\u2013188.","journal-title":"Arch Neurol"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02863929"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.20.2.160"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-198809000-00008"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1177\/19.6.382"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-0173(99)00003-X"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/2470"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199902)45:2<262::AID-ANA20>3.0.CO;2-9"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1999.0402"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0896(98)00233-8"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0167-4889(99)00087-7"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/386779a0"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.66.1.863"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/27.1.260"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/27.1.215"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.2.488"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81357-4"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/5861"},{"key":"e_1_3_2_20_2","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/S1016-8478(23)13385-1","volume":"8","year":"1998","unstructured":"Martell KJ, Angelotti T, Ullrich A. The \u201cVH1-like\u201d dual-specificity protein tyrosine phosphatases. Mol Cells 1998;8:2\u201311.","journal-title":"Mol Cells"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1993.tb17601.x"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1042\/bj3180989"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1042\/bj3160695"},{"key":"e_1_3_2_24_2","first-page":"149","volume":"12","year":"1993","unstructured":"Hengstenberg W, Kohlbrecher D, Witt E, et al. Structure and function of proteins of the phosphotransferase system and of 6-phospho-beta-glycosidases in gram-positive bacteria. FEMS Microbiol Rev 1993;12:149\u2013163.","journal-title":"FEMS Microbiol Rev"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(99)00919-9"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)98451-6"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.11.6199"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.23.16590"}],"container-title":["Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.neurology.org\/doi\/full\/10.1212\/WNL.55.3.341","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T16:34:31Z","timestamp":1711643671000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.neurology.org\/doi\/10.1212\/WNL.55.3.341"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,8,8]]},"references-count":27,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2000,8,8]]}},"alternative-id":["10.1212\/WNL.55.3.341"],"URL":"https:\/\/doi.org\/10.1212\/wnl.55.3.341","relation":{},"ISSN":["0028-3878","1526-632X"],"issn-type":[{"value":"0028-3878","type":"print"},{"value":"1526-632X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,8,8]]}}}