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A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony.
Wijnberg ID, Owczarek-Lipska M, Sacchetto R, Mascarello F, Pascoli F, Grünberg W, van der Kolk JH, Drögemüller C. Wijnberg ID, et al. Among authors: drogemuller c. Neuromuscul Disord. 2012 Apr;22(4):361-7. doi: 10.1016/j.nmd.2011.10.001. Epub 2011 Dec 23. Neuromuscul Disord. 2012. PMID: 22197188 Free article.
A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease.
Kyöstilä K, Syrjä P, Jagannathan V, Chandrasekar G, Jokinen TS, Seppälä EH, Becker D, Drögemüller M, Dietschi E, Drögemüller C, Lang J, Steffen F, Rohdin C, Jäderlund KH, Lappalainen AK, Hahn K, Wohlsein P, Baumgärtner W, Henke D, Oevermann A, Kere J, Lohi H, Leeb T. Kyöstilä K, et al. Among authors: drogemuller c, drogemuller m. PLoS Genet. 2015 Apr 15;11(4):e1005169. doi: 10.1371/journal.pgen.1005169. eCollection 2015 Apr. PLoS Genet. 2015. PMID: 25875846 Free PMC article.
Genetic Abnormalities in a Calf with Congenital Increased Muscular Tonus.
Wiedemar N, Riedi AK, Jagannathan V, Drögemüller C, Meylan M. Wiedemar N, et al. Among authors: drogemuller c. J Vet Intern Med. 2015 Sep-Oct;29(5):1418-21. doi: 10.1111/jvim.13599. Epub 2015 Aug 20. J Vet Intern Med. 2015. PMID: 26289121 Free PMC article. No abstract available.
TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs.
Hahn K, Rohdin C, Jagannathan V, Wohlsein P, Baumgärtner W, Seehusen F, Spitzbarth I, Grandon R, Drögemüller C, Jäderlund KH. Hahn K, et al. Among authors: drogemuller c. PLoS One. 2015 Nov 10;10(11):e0141824. doi: 10.1371/journal.pone.0141824. eCollection 2015. PLoS One. 2015. PMID: 26555167 Free PMC article.
A COL2A1 de novo variant in a Holstein bulldog calf.
Häfliger IM, Behn H, Freick M, Jagannathan V, Drögemüller C. Häfliger IM, et al. Among authors: drogemuller c. Anim Genet. 2019 Feb;50(1):113-114. doi: 10.1111/age.12735. Epub 2018 Oct 31. Anim Genet. 2019. PMID: 30378686 No abstract available.
398 results