{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T08:37:33Z","timestamp":1776069453249,"version":"3.50.1"},"reference-count":116,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T00:00:00Z","timestamp":1596240000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T00:00:00Z","timestamp":1596240000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["L40 TR001136"],"award-info":[{"award-number":["L40 TR001136"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["theclinics.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Veterinary Clinics of North America: Equine Practice"],"published-print":{"date-parts":[[2020,8]]},"DOI":"10.1016\/j.cveq.2020.03.006","type":"journal-article","created":{"date-parts":[[2020,7,9]],"date-time":"2020-07-09T18:16:36Z","timestamp":1594318596000},"page":"255-272","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["Genetics of Equine Neurologic Disease"],"prefix":"10.1016","volume":"36","author":[{"given":"Lisa","family":"Edwards","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carrie J.","family":"Finno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.cveq.2020.03.006_bib1","doi-asserted-by":"crossref","first-page":"289","DOI":"10.2460\/javma.1982.180.03.289","article-title":"Ileocolonic aganglionosis in white progeny of overo spotted horses","volume":"180","author":"Hultgren","year":"1982","journal-title":"J\u00a0Am Vet Med Assoc"},{"issue":"1","key":"10.1016\/j.cveq.2020.03.006_bib2","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1177\/030098588302000107","article-title":"Congenital intestinal aganglionosis in white foals","volume":"20","author":"Vonderfecht","year":"1983","journal-title":"Vet Pathol"},{"issue":"10","key":"10.1016\/j.cveq.2020.03.006_bib3","doi-asserted-by":"crossref","first-page":"1204","DOI":"10.2460\/javma.235.10.1204","article-title":"Evaluation of deafness in American Paint Horses by phenotype, brainstem auditory-evoked responses, and endothelin receptor B genotype","volume":"235","author":"Magdesian","year":"2009","journal-title":"J\u00a0Am Vet Med Assoc"},{"key":"10.1016\/j.cveq.2020.03.006_bib4","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1002\/ajmg.1320360319","article-title":"Ovetrolethal white foal syndrome: equine model of aganglionic megacolon (Hirschsprung Disease)","volume":"36","author":"McCabe","year":"1990","journal-title":"Am J Med Genet"},{"issue":"1","key":"10.1016\/j.cveq.2020.03.006_bib5","doi-asserted-by":"crossref","first-page":"97","DOI":"10.2460\/ajvr.2001.62.97","article-title":"Incidence of the endothelin receptor B mutation that causes lethal white foal syndrome in white-patterned horses","volume":"62","author":"Santschi","year":"2001","journal-title":"Am J Vet Res"},{"issue":"6","key":"10.1016\/j.cveq.2020.03.006_bib6","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1007\/s003359900790","article-title":"A\u00a0missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease","volume":"9","author":"Metallinos","year":"1998","journal-title":"Mamm Genome"},{"issue":"4","key":"10.1016\/j.cveq.2020.03.006_bib7","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1007\/s003359900754","article-title":"Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses","volume":"9","author":"Santschi","year":"1998","journal-title":"Mamm Genome"},{"key":"10.1016\/j.cveq.2020.03.006_bib8","series-title":"Manual of equine dermatology","first-page":"148","article-title":"Congenital\/Developmental diseases","author":"Pascoe","year":"1999"},{"issue":"5","key":"10.1016\/j.cveq.2020.03.006_bib9","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1111\/j.2042-3292.2005.tb00386.x","article-title":"Coat colour dilution lethal ('lavender foal syndrome'): a tetany syndrome of Arabian foals","volume":"17","author":"Fanelli","year":"2005","journal-title":"Equine Vet Education"},{"key":"10.1016\/j.cveq.2020.03.006_bib10","series-title":"Horse Genetics","first-page":"105","article-title":"Medical genetics","author":"Bowling","year":"1996"},{"issue":"6","key":"10.1016\/j.cveq.2020.03.006_bib11","doi-asserted-by":"crossref","first-page":"1491","DOI":"10.1111\/j.1939-1676.2006.tb00772.x","article-title":"Clinical, clinicopathologic, postmortem examination findings and familial history of 3 Arabians with lavender foal syndrome","volume":"20","author":"Page","year":"2006","journal-title":"J\u00a0Vet Intern Med"},{"key":"10.1016\/j.cveq.2020.03.006_bib12","series-title":"Manual of equine neonatal medicine","first-page":"148","article-title":"Congenital anomalies and genetic disorders","author":"Madigan","year":"1997"},{"issue":"4","key":"10.1016\/j.cveq.2020.03.006_bib13","doi-asserted-by":"crossref","first-page":"e1000909","DOI":"10.1371\/journal.pgen.1000909","article-title":"Whole-genome SNP association in the horse: identification of a deletion in myosin Va responsible for Lavender Foal Syndrome","volume":"6","author":"Brooks","year":"2010","journal-title":"PLoS Genet"},{"key":"10.1016\/j.cveq.2020.03.006_bib14","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1111\/j.1365-2052.2010.02086.x","article-title":"Lavender foal syndrome in Arabian horses is caused by a single-base deletion in the MYO5A gene","volume":"41","author":"Bierman","year":"2010","journal-title":"Anim Genet"},{"issue":"4","key":"10.1016\/j.cveq.2020.03.006_bib15","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1111\/evj.12177","article-title":"The carrier prevalence of severe combined immunodeficiency, lavender foal syndrome and cerebellar abiotrophy in Arabian horses in South Africa","volume":"46","author":"Tarr","year":"2014","journal-title":"Equine Vet J"},{"issue":"1","key":"10.1016\/j.cveq.2020.03.006_bib16","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1111\/jvim.14873","article-title":"Investigation of known genetic mutations of Arabian Horses in Egyptian Arabian Foals with Juvenile Idiopathic Epilepsy","volume":"32","author":"Aleman","year":"2018","journal-title":"J\u00a0Vet Intern Med"},{"issue":"4","key":"10.1016\/j.cveq.2020.03.006_bib17","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1023\/A:1016045026204","article-title":"Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity","volume":"22","author":"Sanal","year":"2002","journal-title":"J\u00a0Clin Immunol"},{"issue":"6","key":"10.1016\/j.cveq.2020.03.006_bib18","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1111\/j.1439-0442.2006.00836.x","article-title":"Purkinje cell apoptosis in arabian horses with cerebellar abiotrophy","volume":"53","author":"Blanco","year":"2006","journal-title":"J\u00a0Vet Med A Physiol Pathol Clin Med"},{"issue":"3","key":"10.1016\/j.cveq.2020.03.006_bib19","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1136\/vr.93.3.62","article-title":"Cerebellar hypoplasia and degeneration in the young Arab horse: clinical and neuropathological features","volume":"93","author":"Palmer","year":"1973","journal-title":"Vet Rec"},{"key":"10.1016\/j.cveq.2020.03.006_bib20","unstructured":"Turner Beatty M, Leipold HW, Cash W, et\u00a0al. Cerebellar disease in Arabian Horses. In 31st Annual Proceedings of the American association of equine Practitioners. Toronto, Canada, 1985;241-55."},{"key":"10.1016\/j.cveq.2020.03.006_bib21","first-page":"317","article-title":"Die Oldenburger Fohlen Taxie als Erbkrankeit","volume":"5","author":"Koch","year":"1950","journal-title":"Tierarztl Umschau"},{"issue":"4","key":"10.1016\/j.cveq.2020.03.006_bib22","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1111\/j.1439-0442.1973.tb00892.x","article-title":"Congenital cerebellar ataxia in the gotland pony breed","volume":"20","author":"Bjorck","year":"1973","journal-title":"Zentralbl Veterinarmed A"},{"key":"10.1016\/j.cveq.2020.03.006_bib23","series-title":"Equine medicine and surgery","first-page":"904","article-title":"Nervous system","author":"Hahn","year":"1999"},{"issue":"2","key":"10.1016\/j.cveq.2020.03.006_bib24","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/S0749-0739(17)30677-6","article-title":"Cerebellar abiotrophy","volume":"3","author":"DeBowes","year":"1987","journal-title":"Vet Clin North Am Equine Pract"},{"key":"10.1016\/j.cveq.2020.03.006_bib25","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1186\/1746-6148-9-105","article-title":"Morphometric magnetic resonance imaging and genetic testing in cerebellar abiotrophy in Arabian horses","volume":"9","author":"Cavalleri","year":"2013","journal-title":"BMC Vet Res"},{"key":"10.1016\/j.cveq.2020.03.006_bib26","doi-asserted-by":"crossref","unstructured":"Brault LS, Famula TR, Penedo MCT. Inheritance of equine cerellar abiotrophy in Arabian horses. Am J Vet Res 2011;72(7):940-4.","DOI":"10.2460\/ajvr.72.7.940"},{"issue":"2","key":"10.1016\/j.cveq.2020.03.006_bib27","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.ygeno.2010.11.006","article-title":"Mapping of equine cerebellar abiotrophy to ECA2 and identification of a potential causative mutation affecting expression of MUTYH","volume":"97","author":"Brault","year":"2011","journal-title":"Genomics"},{"issue":"16","key":"10.1016\/j.cveq.2020.03.006_bib28","doi-asserted-by":"crossref","first-page":"14306","DOI":"10.1074\/jbc.M210502200","article-title":"In\u00a0vivo cloning and characterization of a new growth suppressor protein TOE1 as a direct target gene of Egr1","volume":"278","author":"De Belle","year":"2003","journal-title":"J\u00a0Biol Chem"},{"issue":"13","key":"10.1016\/j.cveq.2020.03.006_bib29","doi-asserted-by":"crossref","first-page":"2165","DOI":"10.1016\/j.febslet.2009.06.004","article-title":"TOE1 interacts with p53 to modulate its transactivation potential","volume":"583","author":"Sperandio","year":"2009","journal-title":"FEBS Lett"},{"issue":"5","key":"10.1016\/j.cveq.2020.03.006_bib30","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1046\/j.0022-3042.2002.00774.x","article-title":"Hypoxia induces mitochondrial DNA damage and stimulates expression of a DNA repair enzyme, the Escherichia coli MutY DNA glycosylase homolog (MYH), in\u00a0vivo, in the rat brain","volume":"80","author":"Lee","year":"2002","journal-title":"J\u00a0Neurochem"},{"issue":"13","key":"10.1016\/j.cveq.2020.03.006_bib31","doi-asserted-by":"crossref","first-page":"11135","DOI":"10.1074\/jbc.M108618200","article-title":"Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2\/human MutS homolog 6","volume":"277","author":"Gu","year":"2002","journal-title":"J\u00a0Biol Chem"},{"issue":"2","key":"10.1016\/j.cveq.2020.03.006_bib32","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1007\/s12311-016-0823-8","article-title":"Defining trends in global gene expression in Arabian Horses with cerebellar abiotrophy","volume":"16","author":"Scott","year":"2017","journal-title":"Cerebellum"},{"key":"10.1016\/j.cveq.2020.03.006_bib33","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/j.brainres.2017.10.034","article-title":"Variation in MUTYH expression in Arabian horses with cerebellar abiotrophy","volume":"1678","author":"Scott","year":"2018","journal-title":"Brain Res"},{"issue":"6","key":"10.1016\/j.cveq.2020.03.006_bib34","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1111\/j.2042-3306.2010.00349.x","article-title":"The frequency of the equine cerebellar abiotrophy mutation in non-Arabian horse breeds","volume":"43","author":"Brault","year":"2011","journal-title":"Equine Vet J"},{"issue":"2","key":"10.1016\/j.cveq.2020.03.006_bib35","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1111\/j.2042-3306.1978.tb02232.x","article-title":"Congenital occipitoatlantoaxial malformations in the horse","volume":"10","author":"Mayhew","year":"1978","journal-title":"Equine Vet J"},{"issue":"4","key":"10.1016\/j.cveq.2020.03.006_bib36","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1097\/00007632-198605000-00007","article-title":"Familial congenital occipitoatlantoaxial malformation (OAAM) in the Arabian horse","volume":"11","author":"Watson","year":"1986","journal-title":"Spine (Phila Pa 1976)"},{"issue":"3","key":"10.1016\/j.cveq.2020.03.006_bib37","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1111\/j.1740-8261.2000.tb01481.x","article-title":"Imaging diagnosis--occipitoatlantoaxial malformation in a miniature horse foal","volume":"41","author":"Rosenstein","year":"2000","journal-title":"Vet Radiol Ultrasound"},{"issue":"2","key":"10.1016\/j.cveq.2020.03.006_bib38","first-page":"185","article-title":"Occipitoatlantoaxial malformation with duplication of the atlas and axis in a half Arabian foal","volume":"79","author":"de Lahunta","year":"1989","journal-title":"Cornell Vet"},{"key":"10.1016\/j.cveq.2020.03.006_bib39","first-page":"354","article-title":"Congenital occipitoatlantoaxial malformation (OAAM) with two atlases in a young Arabian horse","volume":"7","author":"Watson","year":"1978","journal-title":"Anat Histol Embryol"},{"issue":"1","key":"10.1016\/j.cveq.2020.03.006_bib40","doi-asserted-by":"crossref","first-page":"36","DOI":"10.2460\/javma.1985.187.01.36","article-title":"Occipitoatlantoaxial malformation in two non-Arabian horses","volume":"187","author":"Wilson","year":"1985","journal-title":"J\u00a0Am Vet Med Assoc"},{"issue":"7","key":"10.1016\/j.cveq.2020.03.006_bib41","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.2460\/javma.231.7.1033","article-title":"What is your diagnosis? Occipitoatlantoaxial malformation","volume":"231","author":"Bell","year":"2007","journal-title":"J\u00a0Am Vet Med Assoc"},{"issue":"1","key":"10.1016\/j.cveq.2020.03.006_bib42","first-page":"67","article-title":"Atlantoaxial malformation in a half-Arabian colt","volume":"81","author":"Blikslager","year":"1991","journal-title":"Cornell Vet"},{"issue":"3","key":"10.1016\/j.cveq.2020.03.006_bib43","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1242\/dev.119.3.579","article-title":"Mice homozygous for a targeted disruption of Hoxd-3 (Hox-4.1) exhibit anterior transformations of the first and second cervical vertebrae, the atlas and the axis","volume":"119","author":"Condie","year":"1993","journal-title":"Development"},{"issue":"3","key":"10.1016\/j.cveq.2020.03.006_bib44","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1111\/age.12531","article-title":"Deletion of 2.7 kb near HOXD3 in an Arabian horse with occipitoatlantoaxial malformation","volume":"48","author":"Bordbari","year":"2017","journal-title":"Anim Genet"},{"issue":"6","key":"10.1016\/j.cveq.2020.03.006_bib45","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1177\/0300985813488955","article-title":"Phenotypic characteristics of hydrocephalus in stillborn Friesian foals","volume":"50","author":"Sipma","year":"2013","journal-title":"Vet Pathol"},{"issue":"11","key":"10.1016\/j.cveq.2020.03.006_bib46","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/j.jevs.2011.03.005","article-title":"Hydrocephalus in an American Miniature Horse Foal: a case report and review","volume":"31","author":"Ferris","year":"2011","journal-title":"J\u00a0Equine Vet Sci"},{"issue":"5","key":"10.1016\/j.cveq.2020.03.006_bib47","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1016\/S0737-0806(83)80036-7","article-title":"Congenital internal hydrocephalus in a quarter horse foal","volume":"3","author":"Foreman","year":"1983","journal-title":"J\u00a0Equine Vet Sci"},{"issue":"2","key":"10.1016\/j.cveq.2020.03.006_bib48","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1111\/j.2042-3306.1992.tb02799.x","article-title":"Inheritance of hydrocephalus in horses","volume":"24","author":"Ojala","year":"1992","journal-title":"Equine Vet J"},{"issue":"1","key":"10.1016\/j.cveq.2020.03.006_bib49","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1055\/s-0038-1624609","article-title":"Diagnosis of internal and external hydrocephalus in a warmblood foal using magnetic resonance imaging","volume":"39","author":"Oey","year":"2011","journal-title":"Tierarztl Prax Ausg G Grosstiere Nutztiere"},{"issue":"2","key":"10.1016\/j.cveq.2020.03.006_bib50","first-page":"197","article-title":"Congenital hydrocephalus in a Belgian draft horse associated with a nonsense mutation in B3GALNT2","volume":"60","author":"Kolb","year":"2019","journal-title":"Can Vet J"},{"issue":"2","key":"10.1016\/j.cveq.2020.03.006_bib51","first-page":"170","article-title":"Treatment of congenital hydrocephalus in a foal using a ventriculoperitoneal shunt","volume":"18","author":"Bentz","year":"2008","journal-title":"J\u00a0Vet Emerg Crit Care"},{"key":"10.1016\/j.cveq.2020.03.006_bib52","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1186\/s12864-015-1936-z","article-title":"A\u00a0nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses","volume":"16","author":"Ducro","year":"2015","journal-title":"BMC Genomics"},{"key":"10.1016\/j.cveq.2020.03.006_bib53","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.mcp.2016.12.005","article-title":"Genotyping of friesian horses to detect a hydrocephalus-associated c.1423C>T mutation in B3GALNT2 using PCR-RFLP and PCR-PIRA methods: frequency in stallion horses in Mexico","volume":"32","author":"Ayala-Valdovinos","year":"2017","journal-title":"Mol Cell Probes"},{"issue":"6","key":"10.1016\/j.cveq.2020.03.006_bib54","doi-asserted-by":"crossref","first-page":"823","DOI":"10.2460\/javma.239.6.823","article-title":"Evaluation of epidemiological, clinical, and pathological features of neuroaxonal dystrophy in Quarter Horses","volume":"239","author":"Aleman","year":"2011","journal-title":"J\u00a0Am Vet Med Assoc"},{"issue":"1","key":"10.1016\/j.cveq.2020.03.006_bib55","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1111\/j.1939-1676.1987.tb01985.x","article-title":"Equine degenerative myeloencephalopathy: a vitamin E deficiency that may be familial","volume":"1","author":"Mayhew","year":"1987","journal-title":"J\u00a0Vet Intern Med"},{"issue":"1","key":"10.1016\/j.cveq.2020.03.006_bib56","doi-asserted-by":"crossref","first-page":"83","DOI":"10.2746\/0425164044864741","article-title":"Equine degenerative myeloencephalopathy in five Quarter Horses: clinical and neuropathological findings","volume":"36","author":"Gandini","year":"2004","journal-title":"Equine Vet J"},{"issue":"Suppl 6","key":"10.1016\/j.cveq.2020.03.006_bib57","first-page":"1","article-title":"Spinal cord disease in the horse","volume":"68","author":"Mayhew","year":"1978","journal-title":"Cornell Vet"},{"issue":"11","key":"10.1016\/j.cveq.2020.03.006_bib58","doi-asserted-by":"crossref","first-page":"1266","DOI":"10.2460\/javma.1983.183.11.1266","article-title":"Myelopathy and vitamin E deficiency in six Mongolian wild horses","volume":"183","author":"Liu","year":"1983","journal-title":"J\u00a0Am Vet Med Assoc"},{"issue":"3","key":"10.1016\/j.cveq.2020.03.006_bib59","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/S1090-0233(02)00302-7","article-title":"Abnormal synaptic protein expression in two Arabian horses with equine degenerative myeloencephalopathy","volume":"166","author":"Siso","year":"2003","journal-title":"Vet J"},{"issue":"3","key":"10.1016\/j.cveq.2020.03.006_bib60","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1007\/BF00296510","article-title":"Endothelial lipopigment as an indicator of alpha-tocopherol deficiency in two equine neurodegenerative diseases","volume":"90","author":"Cummings","year":"1995","journal-title":"Acta Neuropathol"},{"issue":"8","key":"10.1016\/j.cveq.2020.03.006_bib61","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.2460\/ajvr.1990.51.08.1300","article-title":"Factors associated with the development of equine degenerative myeloencephalopathy","volume":"51","author":"Dill","year":"1990","journal-title":"Am J Vet Res"},{"issue":"1","key":"10.1016\/j.cveq.2020.03.006_bib62","first-page":"43","article-title":"Neuroaxonal dystrophy in a two-year-old quarter horse filly","volume":"37","author":"Adams","year":"1996","journal-title":"Can Vet J"},{"issue":"1","key":"10.1016\/j.cveq.2020.03.006_bib63","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/S0021-9975(08)80142-9","article-title":"Neuroaxonal dystrophy associated with vitamin E deficiency in two Haflinger horses","volume":"103","author":"Baumgartner","year":"1990","journal-title":"J\u00a0Comp Pathol"},{"issue":"1","key":"10.1016\/j.cveq.2020.03.006_bib64","doi-asserted-by":"crossref","first-page":"109","DOI":"10.2460\/ajvr.1987.48.01.109","article-title":"Genetic studies of neuraxonal dystrophy in the Morgan","volume":"48","author":"Beech","year":"1987","journal-title":"Am J Vet Res"},{"issue":"6","key":"10.1016\/j.cveq.2020.03.006_bib65","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.2460\/javma.1991.198.06.1005","article-title":"Clinical, viral, and genetic evaluation of equine degenerative myeloencephalopathy in a family of Appaloosas","volume":"198","author":"Blythe","year":"1991","journal-title":"J\u00a0Am Vet Med Assoc"},{"issue":"6","key":"10.1016\/j.cveq.2020.03.006_bib66","doi-asserted-by":"crossref","first-page":"1667","DOI":"10.1111\/jvim.13618","article-title":"Blood and cerebrospinal fluid alpha-tocopherol and selenium concentrations in neonatal foals with neuroaxonal dystrophy","volume":"29","author":"Finno","year":"2015","journal-title":"J\u00a0Vet Intern Med"},{"issue":"4","key":"10.1016\/j.cveq.2020.03.006_bib67","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1177\/030098588402100404","article-title":"Neuroaxonal dystrophy of the accessory cuneate nucleus in horses","volume":"21","author":"Beech","year":"1984","journal-title":"Vet Pathol"},{"issue":"1","key":"10.1016\/j.cveq.2020.03.006_bib68","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/S0749-0739(17)30254-7","article-title":"Equine degenerative myeloencephalopathy","volume":"13","author":"Miller","year":"1997","journal-title":"Vet Clin North Am Equine Pract"},{"issue":"1","key":"10.1016\/j.cveq.2020.03.006_bib69","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1111\/jvim.12015","article-title":"Pedigree analysis and exclusion of alpha-tocopherol transfer protein (TTPA) as a candidate gene for neuroaxonal dystrophy in the American Quarter Horse","volume":"27","author":"Finno","year":"2013","journal-title":"J\u00a0Vet Intern Med"},{"issue":"6","key":"10.1016\/j.cveq.2020.03.006_bib70","doi-asserted-by":"crossref","first-page":"908","DOI":"10.2460\/ajvr.1991.52.06.908","article-title":"Serially determined plasma alpha-tocopherol concentrations and results of the oral vitamin E absorption test in clinically normal horses and in horses with degenerative myeloencephalopathy","volume":"52","author":"Blythe","year":"1991","journal-title":"Am J Vet Res"},{"issue":"1","key":"10.1016\/j.cveq.2020.03.006_bib71","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.tvjl.2004.08.015","article-title":"Neurodegenerative diseases in domestic animals: a comparative review","volume":"171","author":"Siso","year":"2006","journal-title":"Vet J"},{"issue":"4","key":"10.1016\/j.cveq.2020.03.006_bib72","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1177\/104063879300500414","article-title":"Neuroaxonal dystrophy in a group of related cats","volume":"5","author":"Carmichael","year":"1993","journal-title":"J\u00a0Vet Diagn Invest"},{"issue":"3","key":"10.1016\/j.cveq.2020.03.006_bib73","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1097\/00005072-198305000-00006","article-title":"Canine neuroaxonal dystrophy","volume":"42","author":"Cork","year":"1983","journal-title":"J\u00a0Neuropathol Exp Neurol"},{"issue":"4","key":"10.1016\/j.cveq.2020.03.006_bib74","doi-asserted-by":"crossref","first-page":"464","DOI":"10.2460\/javma.1984.184.04.464","article-title":"Neuroaxonal dystrophy of Rottweiler dogs","volume":"184","author":"Chrisman","year":"1984","journal-title":"J\u00a0Am Vet Med Assoc"},{"issue":"1","key":"10.1016\/j.cveq.2020.03.006_bib75","doi-asserted-by":"crossref","first-page":"e0169002","DOI":"10.1371\/journal.pone.0169002","article-title":"Identification of the PLA2G6 c.1579G>A missense mutation in papillon dog neuroaxonal dystrophy using whole exome sequencing analysis","volume":"12","author":"Tsuboi","year":"2017","journal-title":"PLoS One"},{"issue":"8","key":"10.1016\/j.cveq.2020.03.006_bib76","doi-asserted-by":"crossref","first-page":"2773","DOI":"10.1534\/g3.118.200376","article-title":"A\u00a0missense mutation in the vacuolar protein sorting 11 (VPS11) gene is associated with neuroaxonal dystrophy in rottweiler dogs","volume":"8","author":"Lucot","year":"2018","journal-title":"G3 (Bethesda)"},{"issue":"5","key":"10.1016\/j.cveq.2020.03.006_bib77","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1086\/508572","article-title":"PLA2G6 mutation underlies infantile neuroaxonal dystrophy","volume":"79","author":"Khateeb","year":"2006","journal-title":"Am J Hum Genet"},{"issue":"7","key":"10.1016\/j.cveq.2020.03.006_bib78","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1038\/ng1826","article-title":"PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron","volume":"38","author":"Morgan","year":"2006","journal-title":"Nat Genet"},{"issue":"4","key":"10.1016\/j.cveq.2020.03.006_bib79","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1038\/ng572","article-title":"A\u00a0novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome","volume":"28","author":"Zhou","year":"2001","journal-title":"Nat Genet"},{"issue":"3","key":"10.1016\/j.cveq.2020.03.006_bib80","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/j.tvjl.2014.09.013","article-title":"Risk of false positive genetic associations in complex traits with underlying population structure: a case study","volume":"202","author":"Finno","year":"2014","journal-title":"Vet J"},{"key":"10.1016\/j.cveq.2020.03.006_bib81","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.jevs.2018.08.010","article-title":"A\u00a0nonsynonymous change in adhesion G protein-coupled receptor L3 associated with risk for equine degenerative myeloencephalopathy in the Caspian Horse","volume":"70","author":"Posbergh","year":"2018","journal-title":"J\u00a0Equine Vet Sci"},{"issue":"9","key":"10.1016\/j.cveq.2020.03.006_bib82","doi-asserted-by":"crossref","DOI":"10.3390\/genes10090681","article-title":"Previously identified genetic variants in ADGRL3 are not associated with risk for equine degenerative myeloencephalopathy across breeds","volume":"10","author":"Marquardt","year":"2019","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.cveq.2020.03.006_bib83","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.freeradbiomed.2016.10.009","article-title":"Transcriptome profiling of equine vitamin E deficient neuroaxonal dystrophy identifies upregulation of liver X receptor target genes","volume":"101","author":"Finno","year":"2016","journal-title":"Free Radic Biol Med"},{"issue":"5","key":"10.1016\/j.cveq.2020.03.006_bib84","doi-asserted-by":"crossref","first-page":"1740","DOI":"10.1111\/jvim.15241","article-title":"Lipid peroxidation biomarkers for evaluating oxidative stress in equine neuroaxonal dystrophy","volume":"32","author":"Finno","year":"2018","journal-title":"J\u00a0Vet Intern Med"},{"issue":"1","key":"10.1016\/j.cveq.2020.03.006_bib85","doi-asserted-by":"crossref","DOI":"10.3390\/genes11010082","article-title":"Genome-wide association study and subsequent exclusion of ATCAY as a candidate gene involved in equine neuroaxonal dystrophy using two animal models","volume":"11","author":"Hales","year":"2020","journal-title":"Genes (Basel)"},{"issue":"6","key":"10.1016\/j.cveq.2020.03.006_bib86","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1111\/j.1939-1676.2006.tb00764.x","article-title":"Juvenile idiopathic epilepsy in Egyptian Arabian foals: 22 cases (1985-2005)","volume":"20","author":"Aleman","year":"2006","journal-title":"J\u00a0Vet Intern Med"},{"issue":"2","key":"10.1016\/j.cveq.2020.03.006_bib87","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/S0749-0739(17)30675-2","article-title":"Seizures in the horse","volume":"3","author":"Mittel","year":"1987","journal-title":"Vet Clin North Am Equine Pract"},{"issue":"Suppl 9","key":"10.1016\/j.cveq.2020.03.006_bib88","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1528-1167.2005.00330.x","article-title":"Idiopathic generalized epilepsies: a review and modern approach","volume":"46","author":"Panayiotopoulos","year":"2005","journal-title":"Epilepsia"},{"issue":"4","key":"10.1016\/j.cveq.2020.03.006_bib89","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1016\/j.ncl.2009.07.001","article-title":"Advances on the genetics of mendelian idiopathic epilepsies","volume":"27","author":"Baulac","year":"2009","journal-title":"Neurol Clin"},{"issue":"1","key":"10.1016\/j.cveq.2020.03.006_bib90","article-title":"Sequence variant in the TRIM 39-RPP21 gene readthrough is shared across a cohort of arabian foals diagnosed with juvenile idiopathic epilepsy","volume":"1","author":"Polani","year":"2018","journal-title":"J\u00a0Genet Mutat Disord"},{"issue":"10","key":"10.1016\/j.cveq.2020.03.006_bib91","doi-asserted-by":"crossref","DOI":"10.3390\/genes10100816","article-title":"TRIM39-RPP21 variants (19InsCCC) are not associated with juvenile idiopathic epilepsy in Egyptian Arabian Horses","volume":"10","author":"Rivas","year":"2019","journal-title":"Genes (Basel)"},{"issue":"2","key":"10.1016\/j.cveq.2020.03.006_bib92","first-page":"151","article-title":"Diagnosis of deafness in a horse by brainstem auditory evoked potential","volume":"47","author":"Harland","year":"2006","journal-title":"Can Vet J"},{"issue":"3","key":"10.1016\/j.cveq.2020.03.006_bib93","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1242\/dev.107.3.453","article-title":"Another role for melanocytes: their importance for normal stria vascularis development in the mammalian inner ear","volume":"107","author":"Steel","year":"1989","journal-title":"Development"},{"issue":"1","key":"10.1016\/j.cveq.2020.03.006_bib94","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/S0896-6273(01)00259-8","article-title":"Sensorineural deafness and pigmentation genes: melanocytes and the Mitf transcriptional network","volume":"30","author":"Price","year":"2001","journal-title":"Neuron"},{"issue":"12","key":"10.1016\/j.cveq.2020.03.006_bib95","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1093\/oxfordjournals.jhered.a106074","article-title":"\"Wobbles\" an hereditary disease in horses","volume":"41","author":"Dimock","year":"1950","journal-title":"J\u00a0Hered"},{"issue":"4","key":"10.1016\/j.cveq.2020.03.006_bib96","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1111\/j.2042-3306.1976.tb03331.x","article-title":"An investigation into the genetics of 'wobbler disease' in thoroughbred horses in Britain","volume":"8","author":"Falco","year":"1976","journal-title":"Equine Vet J"},{"key":"10.1016\/j.cveq.2020.03.006_bib97","unstructured":"Wagner PC, Grant BD, Watrous BJ, et\u00a0al. A study of the heritability of cervical vertebral malformation in horses. In: 31st Annual Convetion of the American association of equine Practitioners. Toronto, Canada, 1985;43-50."},{"issue":"6","key":"10.1016\/j.cveq.2020.03.006_bib98","doi-asserted-by":"crossref","first-page":"873","DOI":"10.2460\/ajvr.1991.52.06.873","article-title":"Frequency and severity of osteochondrosis in horses with cervical stenotic myelopathy","volume":"52","author":"Stewart","year":"1991","journal-title":"Am J Vet Res"},{"issue":"11","key":"10.1016\/j.cveq.2020.03.006_bib99","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.2460\/ajvr.1995.56.11.1433","article-title":"Epidemiologic evidence for clustering of equine motor-neuron disease in the United-States","volume":"56","author":"Delaruadomenech","year":"1995","journal-title":"Am J Vet Res"},{"issue":"2","key":"10.1016\/j.cveq.2020.03.006_bib100","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1159\/000109779","article-title":"Incidence and risk-factors of equine motor-neuron disease - an ambidirectional study","volume":"14","author":"de la Rua-Domenech","year":"1995","journal-title":"Neuroepidemiology"},{"issue":"1\u20132","key":"10.1016\/j.cveq.2020.03.006_bib101","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/0378-1119(96)00339-3","article-title":"Equine motor neuron disease is not linked to Cu\/Zn superoxide dismutase mutations: sequence analysis of the equine Cu\/Zn superoxide dismutase cDNA","volume":"178","author":"de la Rua-Domenech","year":"1996","journal-title":"Gene"},{"issue":"3","key":"10.1016\/j.cveq.2020.03.006_bib102","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1111\/j.1939-1676.2005.tb02711.x","article-title":"Semilobar holoprosencephaly in a Morgan horse","volume":"19","author":"Koch","year":"2005","journal-title":"J\u00a0Vet Intern Med"},{"issue":"1\u20132","key":"10.1016\/j.cveq.2020.03.006_bib103","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/0006-8993(93)90963-N","article-title":"Deficit of inhibitory glycine receptors in spinal cord from Peruvian Pasos: evidence for an equine form of inherited myoclonus","volume":"628","author":"Gundlach","year":"1993","journal-title":"Brain Res"},{"issue":"5","key":"10.1016\/j.cveq.2020.03.006_bib104","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1111\/j.2042-3306.1991.tb03746.x","article-title":"Congenital encephalomyelopathy in a quarter horse","volume":"23","author":"Seahorn","year":"1991","journal-title":"Equine Vet J"},{"issue":"6","key":"10.1016\/j.cveq.2020.03.006_bib105","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1111\/j.2042-3306.1993.tb02998.x","article-title":"Familial occurrence of narcolepsy in miniature horses","volume":"25","author":"Lunn","year":"1993","journal-title":"Equine Vet J"},{"issue":"2","key":"10.1016\/j.cveq.2020.03.006_bib106","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1080\/01652176.2012.714089","article-title":"Familial narcolepsy in the Lipizzaner horse: a report of three fillies born to the same sire","volume":"32","author":"Ludvikova","year":"2012","journal-title":"Vet Q"},{"key":"10.1016\/j.cveq.2020.03.006_bib107","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/S0368-1742(24)80015-2","article-title":"Fainting in foals","volume":"37","author":"Sheather","year":"1924","journal-title":"J\u00a0Comp Pathol Ther"},{"issue":"2","key":"10.1016\/j.cveq.2020.03.006_bib108","doi-asserted-by":"crossref","first-page":"131","DOI":"10.2460\/javma.1984.184.02.131","article-title":"Narcolepsy in a horse","volume":"184","author":"Dreifuss","year":"1984","journal-title":"J\u00a0Am Vet Med Assoc"},{"issue":"1","key":"10.1016\/j.cveq.2020.03.006_bib109","doi-asserted-by":"crossref","first-page":"126","DOI":"10.2460\/javma.1983.183.01.126","article-title":"Narcolepsy in a horse","volume":"183","author":"Sweeney","year":"1983","journal-title":"J\u00a0Am Vet Med Assoc"},{"issue":"6","key":"10.1016\/j.cveq.2020.03.006_bib110","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1111\/j.1939-1676.2009.0400.x","article-title":"Hypocretin measurement in an Icelandic foal with narcolepsy","volume":"23","author":"Bathen-Nothen","year":"2009","journal-title":"J\u00a0Vet Intern Med"},{"issue":"4","key":"10.1016\/j.cveq.2020.03.006_bib111","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1007\/s004010000298","article-title":"Equine neuronal ceroid lipofuscinosis","volume":"101","author":"Url","year":"2001","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.cveq.2020.03.006_bib112","doi-asserted-by":"crossref","DOI":"10.1002\/9781118522158","author":"Chowdhary","year":"2013","journal-title":"Equine Genomics"},{"issue":"2","key":"10.1016\/j.cveq.2020.03.006_bib113","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1111\/evj.12296","article-title":"Epidemiology of shivering (shivers) in horses","volume":"47","author":"Draper","year":"2015","journal-title":"Equine Vet J"},{"issue":"6","key":"10.1016\/j.cveq.2020.03.006_bib114","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1177\/0300985815571668","article-title":"The equine movement disorder \"shivers\" is associated with selective cerebellar purkinje cell axonal degeneration","volume":"52","author":"Valberg","year":"2015","journal-title":"Vet Pathol"},{"issue":"2","key":"10.1016\/j.cveq.2020.03.006_bib115","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1111\/evj.12259","article-title":"Posture and movement characteristics of forward and backward walking in horses with shivering and acquired bilateral stringhalt","volume":"47","author":"Draper","year":"2015","journal-title":"Equine Vet J"},{"key":"10.1016\/j.cveq.2020.03.006_bib116","unstructured":"Baird JD, Firshman AM, Valberg SJ. Shivers (Shivering) in the horse: a review. In: Proceedings of the Annual Convention of the American Asssociation of equine Practitioners. San Antonia, TX, 2006;359-64."}],"container-title":["Veterinary Clinics of North America: Equine Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0749073920300171?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0749073920300171?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T04:19:58Z","timestamp":1760069998000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0749073920300171"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8]]},"references-count":116,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,8]]}},"alternative-id":["S0749073920300171"],"URL":"https:\/\/doi.org\/10.1016\/j.cveq.2020.03.006","relation":{},"ISSN":["0749-0739"],"issn-type":[{"value":"0749-0739","type":"print"}],"subject":[],"published":{"date-parts":[[2020,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetics of Equine Neurologic Disease","name":"articletitle","label":"Article Title"},{"value":"Veterinary Clinics of North America: Equine Practice","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cveq.2020.03.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}