1. P 43 A novel deletion in two exons of the SH3TC2 gene with mutation in the DPYD gene in Charcot-Marie-Tooth disease type 4C. Issue 10 (October 2017) Authors: Hopmann, D.; Kivi, A.; Riesch, E.; Alishammat, A.; Schmitz, B.; Abdullah Al-Ajmi, A.; Wissel, J.; Müller, J. Journal: Clinical neurophysiology Issue: Volume 128:Issue 10(2017:Oct.) Page Start: e351 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. V28. KCNA2 mutations cause epileptic encephalopathy by gain- or loss-of channel function. Issue 8 (August 2015) Authors: Hedrich, U.B.S.; Syrbe, S.; Riesch, E.; Djémié, T.; Müller, S.; Møller, R.S.; Maher, B.; Hernandez-Hernandez, L.; Synofzik, M.; Caglayan, H.S.; Arslan, M.; Serratosa, J.; Gonzalez, M.; Züchner, S.; Palotie, A.; Suls, A.; De Jonghe, P.; Helbig, I.; Biskup, S.; Wolff, M. Journal: Clinical neurophysiology Issue: Volume 126:Issue 8(2015:Aug.) Page Start: e80 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗