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A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs.
Mhlanga-Mutangadura T, Johnson GS, Schnabel RD, Taylor JF, Johnson GC, Katz ML, Shelton GD, Lever TE, Giuliano E, Granger N, Shomper J, O'Brien DP. Mhlanga-Mutangadura T, et al. Neurobiol Dis. 2016 Feb;86:75-85. doi: 10.1016/j.nbd.2015.11.016. Epub 2015 Nov 25. Neurobiol Dis. 2016. PMID: 26607784 Free article.
Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies.
Kolicheski A, Johnson GS, O'Brien DP, Mhlanga-Mutangadura T, Gilliam D, Guo J, Anderson-Sieg TD, Schnabel RD, Taylor JF, Lebowitz A, Swanson B, Hicks D, Niman ZE, Wininger FA, Carpentier MC, Katz ML. Kolicheski A, et al. J Vet Intern Med. 2016 Jul;30(4):1149-58. doi: 10.1111/jvim.13971. Epub 2016 May 20. J Vet Intern Med. 2016. PMID: 27203721 Free PMC article.
Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas.
Ashwini A, D'Angelo A, Yamato O, Giordano C, Cagnotti G, Harcourt-Brown T, Mhlanga-Mutangadura T, Guo J, Johnson GS, Katz ML. Ashwini A, et al. Mol Genet Metab. 2016 Aug;118(4):326-32. doi: 10.1016/j.ymgme.2016.05.008. Epub 2016 May 13. Mol Genet Metab. 2016. PMID: 27211611 Free article.
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