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Items: 1 to 20 of 94

1.

Sensory ataxic neuropathy in golden retriever dogs is caused by a deletion in the mitochondrial tRNATyr gene.

Baranowska I, Jäderlund KH, Nennesmo I, Holmqvist E, Heidrich N, Larsson NG, Andersson G, Wagner EG, Hedhammar A, Wibom R, Andersson L.

PLoS Genet. 2009 May;5(5):e1000499. doi: 10.1371/journal.pgen.1000499. Epub 2009 May 29.

2.

A neurologic syndrome in Golden Retrievers presenting as a sensory ataxic neuropathy.

Jäderlund KH, Orvind E, Johnsson E, Matiasek K, Hahn CN, Malm S, Hedhammar A.

J Vet Intern Med. 2007 Nov-Dec;21(6):1307-15.

3.

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.

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Hereditary spectrin deficiency in Golden Retriever dogs.

Slappendel RJ, van Zwieten R, van Leeuwen M, Schneijdenberg CT.

J Vet Intern Med. 2005 Mar-Apr;19(2):187-92.

6.

CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene.

Raffelsberger T, Rossmanith W, Thaller-Antlanger H, Bittner RE.

Neurology. 2001 Dec 26;57(12):2298-301.

PMID:
11756614
7.

A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance.

Pulkes T, Siddiqui A, Morgan-Hughes JA, Hanna MG.

Neurology. 2000 Oct 24;55(8):1210-2.

PMID:
11071502
8.

Decreased aminoacylation in pathology-related mutants of mitochondrial tRNATyr is associated with structural perturbations in tRNA architecture.

Bonnefond L, Florentz C, Giegé R, Rudinger-Thirion J.

RNA. 2008 Apr;14(4):641-8. doi: 10.1261/rna.938108. Epub 2008 Feb 11.

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10.

Canine limbal melanoma: 30 cases (1992-2004). Part 1. Signalment, clinical and histological features and pedigree analysis.

Donaldson D, Sansom J, Scase T, Adams V, Mellersh C.

Vet Ophthalmol. 2006 Mar-Apr;9(2):115-9.

PMID:
16497236
11.

SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system.

Brons AK, Henthorn PS, Raj K, Fitzgerald CA, Liu J, Sewell AC, Giger U.

J Vet Intern Med. 2013 Nov-Dec;27(6):1400-8. doi: 10.1111/jvim.12176. Epub 2013 Sep 3.

12.

A deletion in the N-myc downstream regulated gene 1 (NDRG1) gene in Greyhounds with polyneuropathy.

Drögemüller C, Becker D, Kessler B, Kemter E, Tetens J, Jurina K, Jäderlund KH, Flagstad A, Perloski M, Lindblad-Toh K, Matiasek K.

PLoS One. 2010 Jun 22;5(6):e11258. doi: 10.1371/journal.pone.0011258.

13.

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

Taylor RW, Giordano C, Davidson MM, d'Amati G, Bain H, Hayes CM, Leonard H, Barron MJ, Casali C, Santorelli FM, Hirano M, Lightowlers RN, DiMauro S, Turnbull DM.

J Am Coll Cardiol. 2003 May 21;41(10):1786-96.

14.

Evaluation of the dynactin 1 gene in Leonbergers and Labrador Retrievers with laryngeal paralysis.

Holt DE, Brown DC, Henthorn PS.

Am J Vet Res. 2016 Oct;77(10):1114-20. doi: 10.2460/ajvr.77.10.1114.

PMID:
27668583
15.
16.

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.

Beggs AH, Böhm J, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hitte C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, Shelton GD.

Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14697-702. doi: 10.1073/pnas.1003677107. Epub 2010 Aug 3.

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cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog.

Petersen-Jones SM, Entz DD, Sargan DR.

Invest Ophthalmol Vis Sci. 1999 Jul;40(8):1637-44.

PMID:
10393029
20.

A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM).

Gerber M, Fischer A, Jagannathan V, Drögemüller M, Drögemüller C, Schmidt MJ, Bernardino F, Manz E, Matiasek K, Rentmeister K, Leeb T.

PLoS One. 2015 Feb 10;10(2):e0108917. doi: 10.1371/journal.pone.0108917. eCollection 2015.

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