Jan Senderek
Department of Human Genetics
Aachen University of Technology
Aachen
Germany
Name/email consistency: high
- Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Senderek, J., Krieger, M., Stendel, C., Bergmann, C., Moser, M., Breitbach-Faller, N., Rudnik-Schöneborn, S., Blaschek, A., Wolf, N.I., Harting, I., North, K., Smith, J., Muntoni, F., Brockington, M., Quijano-Roy, S., Renault, F., Herrmann, R., Hendershot, L.M., Schröder, J.M., Lochmüller, H., Topaloglu, H., Voit, T., Weis, J., Ebinger, F., Zerres, K. Nat. Genet. (2005)
- Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Senderek, J., Bergmann, C., Weber, S., Ketelsen, U.P., Schorle, H., Rudnik-Schöneborn, S., Büttner, R., Buchheim, E., Zerres, K. Hum. Mol. Genet. (2003)
- Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Senderek, J., Bergmann, C., Stendel, C., Kirfel, J., Verpoorten, N., De Jonghe, P., Timmerman, V., Chrast, R., Verheijen, M.H., Lemke, G., Battaloglu, E., Parman, Y., Erdem, S., Tan, E., Topaloglu, H., Hahn, A., Müller-Felber, W., Rizzuto, N., Fabrizi, G.M., Stuhrmann, M., Rudnik-Schöneborn, S., Züchner, S., Michael Schröder, J., Buchheim, E., Straub, V., Klepper, J., Huehne, K., Rautenstrauss, B., Büttner, R., Nelis, E., Zerres, K. Am. J. Hum. Genet. (2003)
