Tuschl, K., Meyer, E., Valdivia, L.E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C.Y., Simpson, M.A., Chong, W.K., Jacques, T.S., Woltjer, R.L., Eaton, S., Gregory, A., Sanford, L., Kara, E., Houlden, H., Cuno, S.M., Prokisch, H., Valletta, L., Tiranti, V., Younis, R., Maher, E.R., Spencer, J., Straatman-Iwanowska, A., Gissen, P., Selim, L.A., Pintos-Morell, G., Coroleu-Lletget, W., Mohammad, S.S., Yoganathan, S., Dale, R.C., Thomas, M., Rihel, J., Bodamer, O.A., Enns, C.A., Hayflick, S.J., Clayton, P.T., Mills, P.B., Kurian, M.A., Wilson, S.W. (2016) Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nature communications. 7:11601
|
Zech, M., Lam, D.D., Francescatto, L., Schormair, B., Salminen, A.V., Jochim, A., Wieland, T., Lichtner, P., Peters, A., Gieger, C., Lochmüller, H., Strom, T.M., Haslinger, B., Katsanis, N., Winkelmann, J. (2015) Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia. American journal of human genetics. 96(6):883-93
|