{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T16:02:42Z","timestamp":1770220962583,"version":"3.49.0"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Vet Res"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Leukoencephalomyelopathy is an inherited neurodegenerative disorder that affects the white matter of the spinal cord and brain and is known to occur in the Rottweiler breed. Due to the lack of a genetic test for this disorder, post mortem neuropathological examinations are required to confirm the diagnosis. Leukoencephalopathy with brain stem and spinal cord involvement and elevated lactate levels is a rare, autosomal recessive disorder in humans that was recently described to have clinical features and magnetic resonance imaging (MRI) findings that are similar to the histopathologic lesions that define leukoencephalomyelopathy in Rottweilers. Leukoencephalopathy with brain stem and spinal cord involvement is caused by mutations in the <jats:italic>DARS2<\/jats:italic> gene, which encodes a mitochondrial aspartyl-tRNA synthetase. The objective of this case report is to present the results of MRI and candidate gene analysis of a case of Rottweiler leukoencephalomyelopathy to investigate the hypothesis that leukoencephalomyelopathy in Rottweilers could serve as an animal model of human leukoencephalopathy with brain stem and spinal cord involvement.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Case presentation<\/jats:title>\n            <jats:p>A two-and-a-half-year-old male purebred Rottweiler was evaluated for generalised progressive ataxia with hypermetria that was most evident in the thoracic limbs. MRI (T2-weighted) demonstrated well-circumscribed hyperintense signals within both lateral funiculi that extended from the level of the first to the sixth cervical vertebral body. A neurodegenerative disorder was suspected based on the progressive clinical course and MRI findings, and Rottweiler leukoencephalomyelopathy was subsequently confirmed via histopathology. The <jats:italic>DARS2<\/jats:italic> gene was investigated as a causative candidate, but a sequence analysis failed to identify any disease-associated variants in the DNA sequence.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>It was concluded that MRI may aid in the pre-mortem diagnosis of suspected cases of leukoencephalomyelopathy. Genes other than <jats:italic>DARS2<\/jats:italic> may be involved in Rottweiler leukoencephalomyelopathy and may also be relevant in human leukoencephalopathy with brain stem and spinal cord involvement.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1746-6148-9-57","type":"journal-article","created":{"date-parts":[[2013,3,26]],"date-time":"2013-03-26T21:19:14Z","timestamp":1364332754000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Magnetic resonance imaging and genetic investigation of a case of rottweiler leukoencephalomyelopathy"],"prefix":"10.1186","volume":"9","author":[{"given":"Katrin","family":"Hirschvogel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaspar","family":"Matiasek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katharina","family":"Flatz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michaela","family":"Dr\u00f6gem\u00fcller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cord","family":"Dr\u00f6gem\u00fcller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e4rbel","family":"Reiner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,3,26]]},"reference":[{"issue":"3","key":"617_CR1","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1177\/030098588402100302","volume":"21","author":"DA Gamble","year":"1984","unstructured":"Gamble DA, Chrisman CL: A leukoencephalomyelopathy of rottweiler dogs. Vet Pathol. 1984, 21 (3): 274-280.","journal-title":"Vet Pathol"},{"issue":"2","key":"617_CR2","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1080\/01652176.1986.9694028","volume":"8","author":"W Wouda","year":"1986","unstructured":"Wouda W, van Nes JJ: Progressive ataxia due to central demyelination in rottweiler dogs. Vet Q. 1986, 8 (2): 89-97. 10.1080\/01652176.1986.9694028.","journal-title":"Vet Q"},{"issue":"5","key":"617_CR3","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1111\/j.1751-0813.1989.tb09782.x","volume":"66","author":"RF Slocombe","year":"1989","unstructured":"Slocombe RF, Mitten R, Mason TA: Leucoencephalomyelopathy in Australian rottweiler dogs. Aust Vet J. 1989, 66 (5): 147-150. 10.1111\/j.1751-0813.1989.tb09782.x.","journal-title":"Aust Vet J"},{"issue":"9","key":"617_CR4","doi-asserted-by":"publisher","first-page":"388","DOI":"10.1111\/j.1748-5827.2003.tb00173.x","volume":"44","author":"DR Davies","year":"2003","unstructured":"Davies DR, Irwin PJ: Degenerative neurological and neuromuscular disease in young rottweilers. J Small Anim Pract. 2003, 44 (9): 388-394. 10.1111\/j.1748-5827.2003.tb00173.x.","journal-title":"J Small Anim Pract"},{"issue":"10","key":"617_CR5","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1111\/j.1748-5827.1992.tb01033.x","volume":"33","author":"CL Chrisman","year":"1992","unstructured":"Chrisman CL: Neurological diseases of rottweilers: neuroaxonal dystrophy and leukoencephalomalacia. J Small Anim Pract. 1992, 33 (10): 500-504. 10.1111\/j.1748-5827.1992.tb01033.x.","journal-title":"J Small Anim Pract"},{"issue":"12","key":"617_CR6","doi-asserted-by":"publisher","first-page":"1178","DOI":"10.1111\/j.1748-5827.1987.tb01342.x","volume":"28","author":"DG Lewis","year":"1987","unstructured":"Lewis DG, Newsholme SJ: Pseudo cervical spondylopathy in the rottweiler (letter). J Small Anim Pract. 1987, 28 (12): 1178-10.1111\/j.1748-5827.1987.tb01342.x.","journal-title":"J Small Anim Pract"},{"issue":"2","key":"617_CR7","doi-asserted-by":"publisher","first-page":"328","DOI":"10.3174\/ajnr.A1354","volume":"30","author":"J Sundblom","year":"2009","unstructured":"Sundblom J, Melberg A, Kalimo H, Smits A, Raininko R: MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. AJNR Am J Neuroradiol. 2009, 30 (2): 328-335.","journal-title":"AJNR Am J Neuroradiol"},{"issue":"3","key":"617_CR8","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1159\/000345303","volume":"4","author":"T Yonezu","year":"2012","unstructured":"Yonezu T, Ito S, Kanai K, Masuda S, Shibuya K, Kuwabara S: A case of adult-onset alexander disease featuring severe atrophy of the medulla oblongata and upper cervical cord on magnetic resonance imaging. Case Rep Neurol. 2012, 4 (3): 202-206. 10.1159\/000345303.","journal-title":"Case Rep Neurol"},{"issue":"2","key":"617_CR9","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1007\/s00234-005-0016-5","volume":"48","author":"N Kumar","year":"2006","unstructured":"Kumar N, Ahlskog JE, Klein CJ, Port JD: Imaging features of copper deficiency myelopathy: a study of 25 cases. Neuroradiology. 2006, 48 (2): 78-83. 10.1007\/s00234-005-0016-5.","journal-title":"Neuroradiology"},{"issue":"3","key":"617_CR10","doi-asserted-by":"publisher","first-page":"515","DOI":"10.2214\/ajr.165.3.7645462","volume":"165","author":"DP Friedman","year":"1995","unstructured":"Friedman DP, Tartaglino LM, Fisher AR, Flanders AE: MR imaging in the diagnosis of intramedullary spinal cord diseases that involve specific neural pathways or vascular territories. AJR Am J Roentgenol. 1995, 165 (3): 515-523. 10.2214\/ajr.165.3.7645462.","journal-title":"AJR Am J Roentgenol"},{"issue":"4","key":"617_CR11","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1212\/01.wnl.0000198770.80743.37","volume":"66","author":"MS van der Knaap","year":"2006","unstructured":"van der Knaap MS, Ramesh V, Schiffmann R, Blaser S, Kyllerman M, Gholkar A, Ellison DW, van der Voorn JP, van Dooren SJ, Jakobs C: Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. Neurology. 2006, 66 (4): 494-498. 10.1212\/01.wnl.0000198770.80743.37.","journal-title":"Neurology"},{"issue":"3","key":"617_CR12","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1111\/j.1399-0004.2011.01644.x","volume":"80","author":"N Miyake","year":"2011","unstructured":"Miyake N, Yamashita S, Kurosawa K, Miyatake S, Tsurusaki Y, Doi H, Saitsu H, Matsumoto N: A novel homozygous mutation of DARS2 may cause a severe LBSL variant. Clin Genet. 2011, 80 (3): 293-296. 10.1111\/j.1399-0004.2011.01644.x.","journal-title":"Clin Genet"},{"issue":"2","key":"617_CR13","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1002\/ana.10456","volume":"53","author":"MS van der Knaap","year":"2003","unstructured":"van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krageloh-Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ: A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol. 2003, 53 (2): 252-258. 10.1002\/ana.10456.","journal-title":"Ann Neurol"},{"issue":"4","key":"617_CR14","doi-asserted-by":"publisher","first-page":"534","DOI":"10.1038\/ng2013","volume":"39","author":"GC Scheper","year":"2007","unstructured":"Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M: Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet. 2007, 39 (4): 534-539. 10.1038\/ng2013.","journal-title":"Nat Genet"},{"issue":"3","key":"617_CR15","doi-asserted-by":"publisher","first-page":"955","DOI":"10.1042\/BJ20110795","volume":"441","author":"L van Berge","year":"2012","unstructured":"van Berge L, Dooves S, van Berkel CG, Polder E, van der Knaap MS, Scheper GC: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA. Biochem J. 2012, 441 (3): 955-962. 10.1042\/BJ20110795.","journal-title":"Biochem J"},{"issue":"4","key":"617_CR16","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1177\/030098589703400405","volume":"34","author":"GD Kortz","year":"1997","unstructured":"Kortz GD, Meier WA, Higgins RJ, French RA, McKiernan BC, Fatzer R, Zachary JF: Neuronal vacuolation and spinocerebellar degeneration in young rottweiler dogs. Vet Pathol. 1997, 34 (4): 296-302. 10.1177\/030098589703400405.","journal-title":"Vet Pathol"},{"issue":"4","key":"617_CR17","doi-asserted-by":"publisher","first-page":"316","DOI":"10.5326\/0400316","volume":"40","author":"KL Cherrone","year":"2004","unstructured":"Cherrone KL, Dewey CW, Coates JR, Bergman RL: A retrospective comparison of cervical intervertebral disk disease in nonchondrodystrophic large dogs versus small dogs. J Am Anim Hosp Assoc. 2004, 40 (4): 316-320.","journal-title":"J Am Anim Hosp Assoc"},{"issue":"1","key":"617_CR18","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1111\/j.1748-5827.2004.tb00188.x","volume":"45","author":"K Jurina","year":"2004","unstructured":"Jurina K, Grevel V: Spinal arachnoid pseudocysts in 10 rottweilers. J Small Anim Pract. 2004, 45 (1): 9-15. 10.1111\/j.1748-5827.2004.tb00188.x.","journal-title":"J Small Anim Pract"},{"issue":"3","key":"617_CR19","doi-asserted-by":"publisher","first-page":"271","DOI":"10.5326\/0390271","volume":"39","author":"TM Skeen","year":"2003","unstructured":"Skeen TM, Olby NJ, Munana KR, Sharp NJ: Spinal arachnoid cysts in 17 dogs. J Am Anim Hosp Assoc. 2003, 39 (3): 271-282.","journal-title":"J Am Anim Hosp Assoc"},{"issue":"3","key":"617_CR20","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1097\/00005072-198305000-00006","volume":"42","author":"LC Cork","year":"1983","unstructured":"Cork LC, Troncoso JC, Price DL, Stanley EF, Griffin JW: Canine neuroaxonal dystrophy. J Neuropathol Exp Neurol. 1983, 42 (3): 286-296. 10.1097\/00005072-198305000-00006.","journal-title":"J Neuropathol Exp Neurol"},{"issue":"1","key":"617_CR21","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1179\/016164101101198181","volume":"23","author":"W Yin","year":"2001","unstructured":"Yin W, Tibbs R, Aoki K, Badr A, Zhang J: Metabolic alterations in cerebrospinal fluid from double hemorrhage model of dogs. Neurol Res. 2001, 23 (1): 87-92. 10.1179\/016164101101198181.","journal-title":"Neurol Res"},{"key":"617_CR22","volume-title":"Etablierung von laktat- und pyruvatmessung im plasma und liquor cerebrospinalis zur diagnostik von mitochondrialen erkrankungen beim hund. Inaugural-dissertation","author":"V L\u00f6bert","year":"2003","unstructured":"L\u00f6bert V: Etablierung von laktat- und pyruvatmessung im plasma und liquor cerebrospinalis zur diagnostik von mitochondrialen erkrankungen beim hund. Inaugural-dissertation. University of veterinary medicine Hannover: Department of Small Animal Medicine and Surgery; 2003."},{"issue":"8","key":"617_CR23","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1177\/088307380401900801","volume":"19","author":"PB Barker","year":"2004","unstructured":"Barker PB, Horska A: Neuroimaging in leukodystrophies. J Child Neurol. 2004, 19 (8): 559-570. 10.1177\/088307380401900801.","journal-title":"J Child Neurol"},{"issue":"1","key":"617_CR24","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1055\/s-2003-43548","volume":"35","author":"SV Serkov","year":"2004","unstructured":"Serkov SV, Pronin IN, Bykova OV, Maslova OI, Arutyunov NV, Muravina TI, Kornienko VN, Fadeeva LM, Marks H, Bonnemann C: Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate. Neuropediatrics. 2004, 35 (1): 1-5.","journal-title":"Neuropediatrics"},{"issue":"4","key":"617_CR25","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1016\/j.braindev.2012.05.007","volume":"35","author":"S Yamashita","year":"2013","unstructured":"Yamashita S, Miyake N, Matsumoto N, Osaka H, Lai M, Aida N, Tanaka Y: Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2. Brain Dev. 2013, 35 (4): 312-316. 10.1016\/j.braindev.2012.05.007.","journal-title":"Brain Dev"},{"issue":"6","key":"617_CR26","first-page":"1219","volume":"16","author":"RA Kroll","year":"1995","unstructured":"Kroll RA, Pagel MA, Roman-Goldstein S, Barkovich AJ, D\u2019Agostino AN, Neuwelt EA: White matter changes associated with feline GM2 gangliosidosis (sandhoff disease): correlation of MR findings with pathologic and ultrastructural abnormalities. AJNR Am J Neuroradiol. 1995, 16 (6): 1219-1226.","journal-title":"AJNR Am J Neuroradiol"},{"issue":"3","key":"617_CR27","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1016\/j.jfms.2006.11.003","volume":"9","author":"D Hasegawa","year":"2007","unstructured":"Hasegawa D, Yamato O, Kobayashi M, Fujita M, Nakamura S, Takahashi K, Satoh H, Shoda T, Hayashi D, Yamasaki M: Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the japanese domestic cat. J Feline Med Surg. 2007, 9 (3): 232-237. 10.1016\/j.jfms.2006.11.003.","journal-title":"J Feline Med Surg"},{"issue":"8","key":"617_CR28","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1111\/j.1748-5827.1998.tb03741.x","volume":"39","author":"F Cozzi","year":"1998","unstructured":"Cozzi F, Vite CH, Wenger DA, Victoria T, Haskins ME: MRI and electrophysiological abnormalities in a case of canine globoid cell leucodystrophy. J Small Anim Pract. 1998, 39 (8): 401-405. 10.1111\/j.1748-5827.1998.tb03741.x.","journal-title":"J Small Anim Pract"},{"issue":"2","key":"617_CR29","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1111\/j.1939-1676.2008.0068.x","volume":"22","author":"A Oevermann","year":"2008","unstructured":"Oevermann A, Bley T, Konar M, Lang J, Vandevelde M: A novel leukoencephalomyelopathy of leonberger dogs. J Vet Intern Med. 2008, 22 (2): 467-471. 10.1111\/j.1939-1676.2008.0068.x.","journal-title":"J Vet Intern Med"},{"issue":"3","key":"617_CR30","first-page":"275","volume":"46","author":"N Matsuki","year":"2005","unstructured":"Matsuki N, Yamato O, Kusuda M, Maede Y, Tsujimoto H, Ono K: Magnetic resonance imaging of GM2-gangliosidosis in a golden retriever. Can Vet J. 2005, 46 (3): 275-278.","journal-title":"Can Vet J"},{"issue":"5","key":"617_CR31","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.1111\/j.1939-1676.2010.0564.x","volume":"24","author":"S Tamura","year":"2010","unstructured":"Tamura S, Tamura Y, Uchida K, Nibe K, Nakaichi M, Hossain MA, Chang HS, Rahman MM, Yabuki A, Yamato O: GM2 Gangliosidosis variant 0 (sandhoff-like disease) in a family of toy poodles. J Vet Intern Med. 2010, 24 (5): 1013-1019. 10.1111\/j.1939-1676.2010.0564.x.","journal-title":"J Vet Intern Med"},{"issue":"8","key":"617_CR32","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1111\/j.1748-5827.2006.00304.x","volume":"48","author":"S Tamura","year":"2007","unstructured":"Tamura S, Tamura Y, Uchida K: Magnetic resonance imaging findings of neuroaxonal dystrophy in a papillon puppy. J Small Anim Pract. 2007, 48 (8): 458-461. 10.1111\/j.1748-5827.2006.00304.x.","journal-title":"J Small Anim Pract"},{"issue":"3","key":"617_CR33","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1111\/j.1939-1676.2010.0499.x","volume":"24","author":"G Urkasemsin","year":"2010","unstructured":"Urkasemsin G, Linder KE, Bell JS, de Lahunta A, Olby NJ: Hereditary cerebellar degeneration in scottish terriers. J Vet Intern Med. 2010, 24 (3): 565-570. 10.1111\/j.1939-1676.2010.0499.x.","journal-title":"J Vet Intern Med"},{"issue":"3","key":"617_CR34","doi-asserted-by":"publisher","first-page":"460","DOI":"10.1016\/j.nurt.2007.05.004","volume":"4","author":"C Laule","year":"2007","unstructured":"Laule C, Vavasour IM, Kolind SH, Li DK, Traboulsee TL, Moore GR, MacKay AL: Magnetic resonance imaging of myelin. Neurotherapeutics. 2007, 4 (3): 460-484. 10.1016\/j.nurt.2007.05.004.","journal-title":"Neurotherapeutics"},{"issue":"1","key":"617_CR35","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1055\/s-0032-1306380","volume":"32","author":"DL Renaud","year":"2012","unstructured":"Renaud DL: Inherited leukoencephalopathies. Semin Neurol. 2012, 32 (1): 3-8.","journal-title":"Semin Neurol"},{"issue":"1","key":"617_CR36","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1055\/s-0032-1306387","volume":"32","author":"LJ Wong","year":"2012","unstructured":"Wong LJ: Mitochondrial syndromes with leukoencephalopathies. Semin Neurol. 2012, 32 (1): 55-61.","journal-title":"Semin Neurol"},{"issue":"2","key":"617_CR37","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1007\/s00415-011-6176-9","volume":"259","author":"C Tzoulis","year":"2012","unstructured":"Tzoulis C, Tran GT, Gjerde IO, Aasly J, Neckelmann G, Rydland J, Varga V, Wadel-Andersen P, Bindoff LA: Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene. J Neurol. 2012, 259 (2): 292-296. 10.1007\/s00415-011-6176-9.","journal-title":"J Neurol"},{"issue":"1\u20132","key":"617_CR38","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1016\/j.jns.2008.06.002","volume":"273","author":"K Uluc","year":"2008","unstructured":"Uluc K, Baskan O, Yildirim KA, Ozsahin S, Koseoglu M, Isak B, Scheper GC, Gunal DI, van der Knaap MS: Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings. J Neurol Sci. 2008, 273 (1\u20132): 118-122.","journal-title":"J Neurol Sci"},{"key":"617_CR39","doi-asserted-by":"crossref","unstructured":"Saneto RP, Sedensky MM: Mitochondrial disease in childhood: mtDNA encoded. Neurotherapeutics. 2012, 6: \u2009-10.1007\/s13311-012-0167-0.","DOI":"10.1007\/s13311-012-0167-0"},{"key":"617_CR40","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1186\/1471-2156-13-55","volume":"13","author":"OP Forman","year":"2012","unstructured":"Forman OP, De Risio L, Stewart J, Mellersh CS, Beltran E: Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genet. 2012, 13: 55.","journal-title":"BMC Genet"}],"container-title":["BMC Veterinary Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1746-6148-9-57.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T22:48:45Z","timestamp":1630536525000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcvetres.biomedcentral.com\/articles\/10.1186\/1746-6148-9-57"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,26]]},"references-count":40,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["617"],"URL":"https:\/\/doi.org\/10.1186\/1746-6148-9-57","relation":{},"ISSN":["1746-6148"],"issn-type":[{"value":"1746-6148","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,26]]},"assertion":[{"value":"6 October 2012","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 March 2013","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 March 2013","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"57"}}