{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T03:59:06Z","timestamp":1789444746643,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,10,16]],"date-time":"2016-10-16T00:00:00Z","timestamp":1476576000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100008762","name":"Genome Canada","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100008762","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100008914","name":"Ontario Brain Institute","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100008914","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Small Animal Practice"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:p>Lafora disease is a fatal genetic disorder characterised by neurotoxic deposits of malformed insoluble glycogen. In humans it is caused by mutation in the <jats:italic>EPM2A<\/jats:italic> or <jats:italic>NHLRC1<\/jats:italic> genes. There is a known mutation in miniature wirehaired dachshunds which has not been documented in other dog breeds, including beagles, in which the disease is relatively commonly reported. This case report describes the causative defect in two affected beagles, namely the same massive expansion as in miniature wirehaired dachshunds of a 12\u2010nucleotide repeat sequence that is unique to the canine <jats:italic>NHLRC1<\/jats:italic> gene. This is the first mutation described in beagles with Lafora disease, and so far the only Lafora disease genetic variant in dogs.<\/jats:p>","DOI":"10.1111\/jsap.12593","type":"journal-article","created":{"date-parts":[[2016,10,17]],"date-time":"2016-10-17T04:51:17Z","timestamp":1476679877000},"page":"650-652","source":"Crossref","is-referenced-by-count":28,"title":["<i>NHLRC1<\/i> repeat expansion in two beagles with Lafora disease"],"prefix":"10.1111","volume":"57","author":[{"given":"I.","family":"Hajek","sequence":"first","affiliation":[{"name":"Small Animal Referral Centre Sibra  Bratislava 84101 Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Kettner","sequence":"additional","affiliation":[{"name":"Tygerberg Animal Hospital  Cape Town 7550 South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Simerdova","sequence":"additional","affiliation":[{"name":"Small Animal Referral Centre Sibra  Bratislava 84101 Slovak Republic"},{"name":"Department of Animal Nutrition, Faculty of Veterinary Hygiene and Ecology University of Veterinary and Pharmaceutical Sciences Brno  Brno 612 42 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Rusbridge","sequence":"additional","affiliation":[{"name":"Fitzpatrick Referrals  Godalming Surrey GU7 2QQ"},{"name":"School of Veterinary Medicine, Faculty of Health &amp; Medical Sciences University of Surrey  Guildford Surrey GU2 7TE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Wang","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology, Hospital for Sick Children University of Toronto  Toronto Ontario M5G 1X8 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. A.","family":"Minassian","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Faculty of Medicine University of Toronto  Toronto Ontario M5S Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Palus","sequence":"additional","affiliation":[{"name":"Veterinary Clinic ELPA  Trencin 91105 Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,10,16]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.02.016"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0305-0491(86)90386-X"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2006.01.007"},{"key":"e_1_2_4_5_1","first-page":"518","article-title":"Canine neuronal glycoproteinosis \u2013 Lafora's disease in the dog","volume":"12","author":"Cusick P. 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