Hosseinibarkooie, S., Peters, M., Torres-Benito, L., Rastetter, R.H., Hupperich, K., Hoffmann, A., Mendoza-Ferreira, N., Kaczmarek, A., Janzen, E., Milbradt, J., Lamkemeyer, T., Rigo, F., Bennett, C.F., Guschlbauer, C., Büschges, A., Hammerschmidt, M., Riessland, M., Kye, M.J., Clemen, C.S., Wirth, B. (2016) The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype. American journal of human genetics. 99(3):647-65
|
van Dijk, F.S., Zillikens, M.C., Micha, D., Riessland, M., Marcelis, C.L., de Die-Smulders, C.E., Milbradt, J., Franken, A.A., Harsevoort, A.J., Lichtenbelt, K.D., Pruijs, H.E., Rubio-Gozalbo, M.E., Zwertbroek, R., Moutaouakil, Y., Egthuijsen, J., Hammerschmidt, M., Bijman, R., Semeins, C.M., Bakker, A.D., Everts, V., Klein-Nulend, J., Campos-Obando, N., Hofman, A., te Meerman, G.J., Verkerk, A.J., Uitterlinden, A.G., Maugeri, A., Sistermans, E.A., Waisfisz, Q., Meijers-Heijboer, H., Wirth, B., Simon, M.E., and Pals, G. (2013) PLS3 mutations in X-linked osteoporosis with fractures. New. Engl. J. Med.. 369(16):1529-1536
|
