Reference table (All references)



References
Year
PubMed Id
Yang, A. C., Ng, B. G., Moore, S. A., Rush, J., Waechter, C. J., Raymond, K. M., Willer, T., Campbell, K. P., Freeze, H. H., Mehta, L. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Molec. Genet. Metab. 110: 345-351, 2013.
2013
Yang, Y., Liu, W., Fang, Z., Shi, J., Che, F., He, C., Yao, L., Wang, E., Wu, Y. A newly identified missense mutation in FARS2 causes autosomal-recessive spastic paraplegia. Hum. Mutat. 37: 165-169, 2016.
2016
Yang, Y., Yang, Y., Liang, B., Liu, J., Li, J., Grunnet, M., Olesen, S.-P., Rasmussen, H. B., Ellinor, P. T., Gao, L., Lin, X., Li, L., and 9 others. Identification of a Kir3.4 mutation in congenital long QT syndrome. Am. J. Hum. Genet. 86: 872-880, 2010.
2010
Yang, Y.; Li, J.; Lin, X.; Yang, Y.; Hong, K.; Wang, L.; Liu, J.; Li, L.; Yan, D.; Liang, D.; Xiao, J.; Jin, H.; Wu, J.; Zhang, Y.; Chen, Y.-H. Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation. J. Hum. Genet. 54: 277-283, 2009.
2009
Ylikallio E, Pöyhönen R, Zimon M, De Vriendt E, Hilander T, Paetau A, Jordanova A, Lönnqvist T, Tyynismaa H. Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy. Hum Mol Genet. 2013 Aug 1;22(15):2975-83. doi: 10.1093/hmg/ddt149. Epub 2013 Apr 4.
2013
Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., Inazu, T., Mitsuhashi, H., Takahashi, S., Takeuchi, M., Herrmann, R., Straub, V., Talim, B., Voit, T., Topaloglu, H., Toda, T., Endo, T. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev. Cell 1: 717-724, 2001.
2001
Young K, Foroud T, Williams P, Jackson CE, Beckmann JS, Cohen D, Conneally PM, Tischfield J, Hodes ME. Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15. Genomics. 1992 Aug;13(4):1370-1.
1992
Yu, G.-Y.; Howell, M. J.; Roller, M. J.; Xie, T.-D.; Gomez, C. M. : Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6. Ann. Neurol. 57: 349-354, 2005.
2005
Yuan, J., Matsuura, E., Higuchi, Y., Hashiguchi, A., Nakamura, T., Nozuma, S., Sakiyama, Y., Yoshimura, A., Izumo, S., Takashima, H. Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation. Neurology 80: 1641-1649, 2013.
2013
Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V.-L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., and 45 others. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J. Clin. Invest. 124: 4693-4708, 2014.
2014