Seppälä EH - Search Results

1

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.

Farias FH, Zeng R, Johnson GS, Wininger FA, Taylor JF, Schnabel RD, McKay SD, Sanders DN, Lohi H, Seppälä EH, Wade CM, Lindblad-Toh K, O'Brien DP, Katz ML. Farias FH, et al. Among authors: seppala eh. Neurobiol Dis. 2011 Jun;42(3):468-74. doi: 10.1016/j.nbd.2011.02.009. Epub 2011 Feb 26. Neurobiol Dis. 2011. PMID: 21362476

2

Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex.

Wilbe M, Jokinen P, Truvé K, Seppala EH, Karlsson EK, Biagi T, Hughes A, Bannasch D, Andersson G, Hansson-Hamlin H, Lohi H, Lindblad-Toh K. Wilbe M, et al. Among authors: seppala eh. Nat Genet. 2010 Mar;42(3):250-4. doi: 10.1038/ng.525. Epub 2010 Jan 31. Nat Genet. 2010. PMID: 20101241

3

Segregation of point mutation heteroplasmy in the control region of dog mtDNA studied systematically in deep generation pedigrees.

Klütsch CF, Seppälä EH, Uhlén M, Lohi H, Savolainen P. Klütsch CF, et al. Among authors: seppala eh. Int J Legal Med. 2011 Jul;125(4):527-35. doi: 10.1007/s00414-010-0524-7. Epub 2010 Nov 4. Int J Legal Med. 2011. PMID: 21049272 Free PMC article. Review.

4

Assessment of the functionality of genome-wide canine SNP arrays and implications for canine disease association studies.

Ke X, Kennedy LJ, Short AD, Seppälä EH, Barnes A, Clements DN, Wood SH, Carter SD, Happ GM, Lohi H, Ollier WE. Ke X, et al. Among authors: seppala eh. Anim Genet. 2011 Apr;42(2):181-90. doi: 10.1111/j.1365-2052.2010.02132.x. Epub 2010 Nov 11. Anim Genet. 2011. PMID: 21070295

5

LGI2 truncation causes a remitting focal epilepsy in dogs.

Seppälä EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen SK, Steffen F, Dietschi E, Leeb T, Eklund R, Zhao X, Rilstone JJ, Lindblad-Toh K, Minassian BA, Lohi H. Seppälä EH, et al. PLoS Genet. 2011 Jul;7(7):e1002194. doi: 10.1371/journal.pgen.1002194. Epub 2011 Jul 28. PLoS Genet. 2011. PMID: 21829378 Free PMC article.

6

Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs.

Seppälä EH, Koskinen LL, Gulløv CH, Jokinen P, Karlskov-Mortensen P, Bergamasco L, Baranowska Körberg I, Cizinauskas S, Oberbauer AM, Berendt M, Fredholm M, Lohi H. Seppälä EH, et al. PLoS One. 2012;7(3):e33549. doi: 10.1371/journal.pone.0033549. Epub 2012 Mar 23. PLoS One. 2012. PMID: 22457775 Free PMC article.

7

A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery.

Kyöstilä K, Cizinauskas S, Seppälä EH, Suhonen E, Jeserevics J, Sukura A, Syrjä P, Lohi H. Kyöstilä K, et al. Among authors: seppala eh. PLoS Genet. 2012;8(6):e1002759. doi: 10.1371/journal.pgen.1002759. Epub 2012 Jun 14. PLoS Genet. 2012. PMID: 22719266 Free PMC article.

8

A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.

Seppälä EH, Reuser AJ, Lohi H. Seppälä EH, et al. PLoS One. 2013;8(2):e56825. doi: 10.1371/journal.pone.0056825. Epub 2013 Feb 14. PLoS One. 2013. PMID: 23457621 Free PMC article.

9

Phenotype, inheritance characteristics, and risk factors for idiopathic epilepsy in Finnish Spitz dogs.

Viitmaa R, Cizinauskas S, Orro T, Niilo-Rämä M, Gordin E, Lohi H, Seppälä EH, Bragge H, Snellman M. Viitmaa R, et al. Among authors: seppala eh. J Am Vet Med Assoc. 2013 Oct 1;243(7):1001-9. doi: 10.2460/javma.243.7.1001. J Am Vet Med Assoc. 2013. PMID: 24050567 Free article.

10

Breed differences in natriuretic peptides in healthy dogs.

Sjöstrand K, Wess G, Ljungvall I, Häggström J, Merveille AC, Wiberg M, Gouni V, Lundgren Willesen J, Hanås S, Lequarré AS, Mejer Sørensen L, Wolf J, Tiret L, Kierczak M, Forsberg S, McEntee K, Battaille G, Seppälä E, Lindblad-Toh K, Georges M, Lohi H, Chetboul V, Fredholm M, Höglund K. Sjöstrand K, et al. J Vet Intern Med. 2014 Mar-Apr;28(2):451-7. doi: 10.1111/jvim.12310. Epub 2014 Feb 3. J Vet Intern Med. 2014. PMID: 24495256 Free PMC article.

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