P. Young
Institute for Cell Biology
ETH Hönggerberg
Zürich
Switzerland
Name/email consistency: high
- Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity. Young, P., Grote, K., Kuhlenbäumer, G., Debus, O., Kurlemann, H., Halfter, H., Funke, H., Ringelstein, E.B., Stögbauer, F. J. Neurol. (2001)
- PMP22 Thr118Met is not a clinically relevant CMT1 marker. Young, P., Stögbauer, F., Eller, B., de Jonghe, P., Löfgren, A., Timmerman, V., Rautenstrauss, B., Oexle, K., Grehl, H., Kuhlenbäumer, G., Van Broeckhoven, C., Ringelstein, E.B., Funke, H. J. Neurol. (2000)