Carss, K.J., Stevens, E., Foley, A.R., Cirak, S., Riemersma, M., Torelli, S., Hoischen, A., Willer, T., van Scherpenzeel, M., Moore, S.A., Messina, S., Bertini, E., Bönnemann, C.G., Abdenur, J.E., Grosmann, C.M., Kesari, A., Punetha, J., Quinlivan, R., Waddell, L.B., Young, H.K., Wraige, E., Yau, S., Brodd, L., Feng, L., Sewry, C., Macarthur, D.G., North, K.N., Hoffman, E., Stemple, D.L., Hurles, M.E., van Bokhoven, H., Campbell, K.P., Lefeber, D.J., Lin, Y.Y., and Muntoni, F. (2013) Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of alpha-Dystroglycan. American journal of human genetics. 93(1):29-41

Carss, K.J., Stevens, E., Foley, A.R., Cirak, S., Riemersma, M., Torelli, S., Hoischen, A., Willer, T., van Scherpenzeel, M., Moore, S.A., Messina, S., Bertini, E., Bönnemann, C.G., Abdenur, J.E., Grosmann, C.M., Kesari, A., Punetha, J., Quinlivan, R., Waddell, L.B., Young, H.K., Wraige, E., Yau, S., Brodd, L., Feng, L., Sewry, C., Macarthur, D.G., North, K.N., Hoffman, E., Stemple, D.L., Hurles, M.E., van Bokhoven, H., Campbell, K.P., Lefeber, D.J., Lin, Y.Y., and Muntoni, F. (2013) Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of alpha-Dystroglycan. American journal of human genetics. 93(1):29-41