{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T11:47:46Z","timestamp":1782733666978,"version":"3.54.5"},"reference-count":24,"publisher":"Public Library of Science (PLoS)","issue":"2","license":[{"start":{"date-parts":[[2015,2,10]],"date-time":"2015-02-10T00:00:00Z","timestamp":1423526400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0108917","type":"journal-article","created":{"date-parts":[[2015,2,10]],"date-time":"2015-02-10T18:41:50Z","timestamp":1423593710000},"page":"e0108917","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":29,"title":["A Deletion in the VLDLR Gene in Eurasier Dogs with Cerebellar Hypoplasia Resembling a Dandy-Walker-Like Malformation (DWLM)"],"prefix":"10.1371","volume":"10","author":[{"given":"Martina","family":"Gerber","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vidhya","family":"Jagannathan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela","family":"Dr\u00f6gem\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cord","family":"Dr\u00f6gem\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin J.","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filipa","family":"Bernardino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eberhard","family":"Manz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaspar","family":"Matiasek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Rentmeister","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tosso","family":"Leeb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2015,2,10]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1086\/444400","article-title":"Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification","volume":"77","author":"KM Boycott","year":"2005","journal-title":"Am J Hum Genet"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1038\/sj.ejhg.5201967","article-title":"Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome","volume":"16","author":"LA Moheb","year":"2008","journal-title":"Eur J Hum Genet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1177\/0883073812441065","article-title":"The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients","volume":"28","author":"FM Sonmez","year":"2013","journal-title":"J Child Neurol"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"4232","DOI":"10.1073\/pnas.0710010105","article-title":"Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans","volume":"105","author":"T Ozcelik","year":"2008","journal-title":"Proc Natl Acad Sci"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1038\/ejhg.2008.73","article-title":"Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene","volume":"16","author":"S T\u00fcrkmen","year":"2008","journal-title":"Eur J Hum Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1007\/s10048-009-0232-y","article-title":"Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy","volume":"11","author":"LE Kolb","year":"2010","journal-title":"Neurogenetics"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"1310","DOI":"10.1177\/0883073809332696","article-title":"Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)","volume":"24","author":"KM Boycott","year":"2009","journal-title":"J Child Neurol"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1186\/1471-2350-13-80","article-title":"A missense founder mutation in VLDLR is associated with dysequilibrium syndrome without quadrupedal locomotion","volume":"13","author":"BR Ali","year":"2012","journal-title":"BMC Med Genet"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"1678","DOI":"10.1007\/s00415-013-6941-z","article-title":"Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation","volume":"260","author":"L Schlotawa","year":"2013","journal-title":"J Neurol"},{"key":"ref10","first-page":"138ra78","article-title":"Exome sequencing can improve diagnosis and alter patient management","volume":"4","author":"TJ Dixon-Salazar","year":"2012","journal-title":"Sci Transl Med"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1111\/j.1460-9568.2010.07222.x","article-title":"Emerging topics in reelin function","volume":"31","author":"E F\u00f6rster","year":"2010","journal-title":"Eur J Neurosci"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1038\/374719a0","article-title":"A protein related to extracellular matrix proteins deleted in the mouse mutant reeler","volume":"374","author":"G D\u2019Arcangelo","year":"1995","journal-title":"Nature"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1016\/S0092-8674(00)80782-5","article-title":"Reeler\/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2","volume":"97","author":"M Trommsdorff","year":"1999","journal-title":"Cell"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1177\/030098588602300405","article-title":"Cerebellar vermian hypoplasia in dogs","volume":"23","author":"JN Kornegay","year":"1986","journal-title":"Vet Pathol"},{"key":"ref15","first-page":"51","article-title":"Cerebellar hypoplasia in Chow Chows","volume":"15","author":"CD Knecht","year":"1979","journal-title":"J Am Anim Hosp Assoc"},{"key":"ref16","first-page":"355","article-title":"Dandy-Walker like syndrome in four dogs: cisternography as a diagnostic aid","volume":"28","author":"V Schmid","year":"1992","journal-title":"J Am Anim Hosp Assoc"},{"issue":"2","key":"ref17","doi-asserted-by":"crossref","first-page":"e0117670","DOI":"10.1371\/journal.pone.0117670","article-title":"Cerebellar hypoplasia resembling Dandy-Walker-like malformation in purebed Eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort study","volume":"10","author":"F Bernardino","year":"2015","journal-title":"PLoS ONE"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"1496","DOI":"10.1101\/gr.571002","article-title":"Identification of the single base change causing the callipyge muscle hypertrophy phenotype, the only known example of polar overdominance in mammals","volume":"12","author":"BA Freking","year":"2002","journal-title":"Genome Res"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"e1001079","DOI":"10.1371\/journal.pgen.1001079","article-title":"Identification of the bovine arachnomelia mutation by massively parallel sequencing implicates sulfite oxidase (SUOX) in bone development","volume":"6","author":"C Dr\u00f6gem\u00fcller","year":"2010","journal-title":"PLOS Genetics"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: a tool set for whole-genome association and population-based linkage analyses","volume":"81","author":"S Purcell","year":"2007","journal-title":"Am J Hum Genet"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"1294","DOI":"10.1093\/bioinformatics\/btm108","article-title":"GenABEL: an R library for genome-wide association analysis","volume":"23","author":"YS Aulchenko","year":"2007","journal-title":"Bioinformatics"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"H Li","year":"2009","journal-title":"Bioinformatics"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"A McKenna","year":"2010","journal-title":"Genome Res"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3","volume":"6","author":"P Cingolani","year":"2012","journal-title":"Fly"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0108917","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T04:24:37Z","timestamp":1717734277000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0108917"}},"subtitle":[],"editor":[{"given":"Stephen","family":"Moore","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2015,2,10]]},"references-count":24,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2015,2,10]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0108917","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,10]]}}}