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Items: 19


Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported CLN8 nonsense variant.

Guo J, Johnson GS, Cook J, Harris OK, Mhlanga-Mutangadura T, Schnabel RD, Jensen CA, Katz ML.

Mol Genet Metab Rep. 2019 Oct 21;21:100521. doi: 10.1016/j.ymgmr.2019.100521. eCollection 2019 Dec.


A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility.

Jaffey JA, Bullock G, Teplin E, Guo J, Villani NA, Mhlanga-Mutangadura T, Schnabel RD, Cohn LA, Johnson GS.

Anim Genet. 2019 Oct;50(5):543-545. doi: 10.1111/age.12825. Epub 2019 Jul 11.


A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs.

Villani NA, Bullock G, Michaels JR, Yamato O, O'Brien DP, Mhlanga-Mutangadura T, Johnson GS, Katz ML.

Mol Genet Metab. 2019 May;127(1):107-115. doi: 10.1016/j.ymgme.2019.04.003. Epub 2019 Apr 17.


GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB.

Kolicheski A, Johnson GS, Villani NA, O'Brien DP, Mhlanga-Mutangadura T, Wenger DA, Mikoloski K, Eagleson JS, Taylor JF, Schnabel RD, Katz ML.

J Vet Intern Med. 2017 Sep;31(5):1520-1526. doi: 10.1111/jvim.14794. Epub 2017 Aug 20.


Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis.

Kolicheski A, Barnes Heller HL, Arnold S, Schnabel RD, Taylor JF, Knox CA, Mhlanga-Mutangadura T, O'Brien DP, Johnson GS, Dreyfus J, Katz ML.

J Vet Intern Med. 2017 Jan;31(1):149-157. doi: 10.1111/jvim.14632. Epub 2016 Dec 23.


A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia.

Kolicheski AL, Johnson GS, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, Kinoshita T, Murakami Y, O'Brien DP.

Neurogenetics. 2017 Jan;18(1):39-47. doi: 10.1007/s10048-016-0502-4. Epub 2016 Nov 28.


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.

Mol Genet Metab. 2016 Aug;118(4):326-32. doi: 10.1016/j.ymgme.2016.05.008. Epub 2016 May 13.


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.

J Vet Intern Med. 2016 Jul;30(4):1149-58. doi: 10.1111/jvim.13971. Epub 2016 May 20.


A Homozygous RAB3GAP1:c.743delC Mutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration.

Mhlanga-Mutangadura T, Johnson GS, Ashwini A, Shelton GD, Wennogle SA, Johnson GC, Kuroki K, O'Brien DP.

J Vet Intern Med. 2016 May;30(3):813-8. doi: 10.1111/jvim.13921. Epub 2016 Mar 10.


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.

Neurobiol Dis. 2016 Feb;86:75-85. doi: 10.1016/j.nbd.2015.11.016. Epub 2015 Nov 25.


Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5.

Gilliam D, Kolicheski A, Johnson GS, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, Katz ML.

Mol Genet Metab. 2015 Jun-Jul;115(2-3):101-9. doi: 10.1016/j.ymgme.2015.04.001. Epub 2015 Apr 23.


A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis.

Guo J, O'Brien DP, Mhlanga-Mutangadura T, Olby NJ, Taylor JF, Schnabel RD, Katz ML, Johnson GS.

BMC Vet Res. 2015 Jan 3;10:960. doi: 10.1186/s12917-014-0181-z.


Genome Sequence of Actinobacillus suis Type Strain ATCC 33415T.

Calcutt MJ, Foecking MF, Mhlanga-Mutangadura T, Reilly TJ.

Genome Announc. 2014 Sep 18;2(5). pii: e00926-14. doi: 10.1128/genomeA.00926-14.


Draft Genome Sequence of Moraxella bovoculi Strain 237T (ATCC BAA-1259T) Isolated from a Calf with Infectious Bovine Keratoconjunctivitis.

Calcutt MJ, Foecking MF, Martin NT, Mhlanga-Mutangadura T, Reilly TJ.

Genome Announc. 2014 Jun 26;2(3). pii: e00612-14. doi: 10.1128/genomeA.00612-14.


A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry.

Guo J, Johnson GS, Brown HA, Provencher ML, da Costa RC, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, O'Brien DP, Katz ML.

Mol Genet Metab. 2014 Aug;112(4):302-9. doi: 10.1016/j.ymgme.2014.05.014. Epub 2014 Jun 4.


A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both.

Gilliam D, O'Brien DP, Coates JR, Johnson GS, Johnson GC, Mhlanga-Mutangadura T, Hansen L, Taylor JF, Schnabel RD.

J Vet Intern Med. 2014 May-Jun;28(3):871-7. doi: 10.1111/jvim.12355. Epub 2014 Apr 7.


Male terminalia variation in the rainforest dwelling Drosophila teissieri contrasts with the sperm pattern and species stability.

Joly D, Cariou ML, Mhlanga-Mutangadura T, Lachaise D.

Genetica. 2010 Jan;138(1):139-52. doi: 10.1007/s10709-009-9423-6.


Characterization of genetic and phenotypic diversity of invasive nontypeable Haemophilus influenzae.

Erwin AL, Nelson KL, Mhlanga-Mutangadura T, Bonthuis PJ, Geelhood JL, Morlin G, Unrath WC, Campos J, Crook DW, Farley MM, Henderson FW, Jacobs RF, Mühlemann K, Satola SW, van Alphen L, Golomb M, Smith AL.

Infect Immun. 2005 Sep;73(9):5853-63.


Evolution of the major pilus gene cluster of Haemophilus influenzae.

Mhlanga-Mutangadura T, Morlin G, Smith AL, Eisenstark A, Golomb M.

J Bacteriol. 1998 Sep;180(17):4693-703.

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