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Journal of Neurology, ISSN 0340-5354, 3/2012, Volume 259, Issue 3, pp. 474 - 481
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 10/2015, Volume 290, Issue 44, pp. 26790 - 26800
Journal Article
Experimental Neurology, ISSN 0014-4886, 10/2013, Volume 248, pp. 286 - 298
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2011, Volume 45, Issue 3, pp. 851 - 861
Abstract We have generated a new mouse model for congenital myasthenic syndromes by inserting the missense mutation L221F into the ε subunit of the... 
Neurology | Slow channel congenital myasthenic syndrome | Mouse model | Neuromuscular junction | Homologous recombination | Acetylcholine receptor | M2 DOMAIN | ACTIVATION | UNDERLIES | MUSCLE | NICOTINIC RECEPTOR | NEUROSCIENCES | TRANSMISSION | ACETYLCHOLINESTERASE KNOCKOUT MICE | NEUROMUSCULAR-JUNCTION | SUBUNIT | PLASTICITY | Humans | Diaphragm - ultrastructure | Miniature Postsynaptic Potentials - drug effects | Aminophenols | Time Factors | Myasthenic Syndromes, Congenital - pathology | Miniature Postsynaptic Potentials - genetics | Neuromuscular Junction - pathology | Diaphragm - physiopathology | Disease Models, Animal | Synaptophysin - metabolism | Myasthenic Syndromes, Congenital - genetics | Microscopy, Electron, Transmission | Genetic Predisposition to Disease | Receptors, Nicotinic - metabolism | Gene Expression Regulation - genetics | Mutagenesis - genetics | Mice, Transgenic | S100 Proteins - metabolism | Biophysics | Neuromuscular Junction - physiopathology | Neuromuscular Junction - ultrastructure | Isoleucine - genetics | Patch-Clamp Techniques | Animals | Phenylalanine - genetics | Motor Endplate - ultrastructure | Mice | In Vitro Techniques | Neurofilament Proteins - metabolism | Hand Strength - physiology | Receptors, Nicotinic - genetics | Acetylcholinesterase - metabolism | Motor Endplate - physiopathology
Journal Article
Journal of Molecular Neuroscience, ISSN 0895-8696, 1/2010, Volume 40, Issue 1, pp. 143 - 153
Journal Article