TY - JOUR AU - McKay, O. M. AU - Krishnan, A. V. AU - Davis, M. AU - Kiernan, M. C. PY - 2006 DA - 2006// TI - Activity-induced weakness in recessive myotonia congenita with a novel (696+1G>a) mutation JO - Clin Neurophysiol VL - 117 UR - https://doi.org/10.1016/j.clinph.2006.05.014 DO - 10.1016/j.clinph.2006.05.014 ID - McKay2006 ER - TY - JOUR AU - Ulzi, G. AU - Lecchi, M. AU - Sansone, V. AU - Redaelli, E. AU - Corti, E. AU - Saccomanno, D. PY - 2012 DA - 2012// TI - Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients JO - J Neurol Sci VL - 318 UR - https://doi.org/10.1016/j.jns.2012.03.024 DO - 10.1016/j.jns.2012.03.024 ID - Ulzi2012 ER - TY - JOUR AU - Cheng, W. AU - Tian, J. AU - Burgunder, J. M. AU - Hunziker, W. AU - Eng, H. L. PY - 2014 DA - 2014// TI - Myotonia congenita-associated mutations in chloride channel-1 affect zebrafish body wave swimming kinematics JO - PLoS One VL - 9 UR - https://doi.org/10.1371/journal.pone.0103445 DO - 10.1371/journal.pone.0103445 ID - Cheng2014 ER - TY - JOUR AU - Meyer-Kleine, C. AU - Steinmeyer, K. AU - Ricker, K. AU - Jentsch, T. J. AU - Koch, M. C. PY - 1995 DA - 1995// TI - Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia JO - Am J Hum Genet VL - 57 ID - Meyer-Kleine1995 ER - TY - JOUR AU - Ulzi, G. AU - Sansone, V. A. AU - Magri, F. AU - Corti, S. AU - Bresolin, N. AU - Comi, G. P. PY - 2014 DA - 2014// TI - In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay JO - Mol Biol Rep VL - 41 UR - https://doi.org/10.1007/s11033-014-3142-5 DO - 10.1007/s11033-014-3142-5 ID - Ulzi2014 ER - TY - JOUR AU - Burgunder, J. M. AU - Huifang, S. AU - Beguin, P. AU - Baur, R. AU - Eng, C. S. AU - Seet, R. C. PY - 2008 DA - 2008// JO - Novel chloride channel mutations leading to mild myotonia among ChineseNeuromuscul Disord VL - 18 ID - Burgunder2008 ER - TY - JOUR AU - Andersen, G. AU - Hedermann, G. AU - Witting, N. AU - Duno, M. AU - Andersen, H. AU - Vissing, J. PY - 2017 DA - 2017// TI - The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study JO - Brain VL - 140 UR - https://doi.org/10.1093/brain/awx192 DO - 10.1093/brain/awx192 ID - Andersen2017 ER -