Synaptic dysfunction in congenital myasthenic syndromes
Author:
Publisher
Wiley
Subject
History and Philosophy of Science,General Biochemistry, Genetics and Molecular Biology,General Neuroscience
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/nyas.12000/fullpdf
Reference29 articles.
1. Current status of the congenital myasthenic syndromes;Engel;Neuromuscul. Disord.,2012
2. 186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands;Chaouch;Neuromuscul. Disord.,2012
3. The therapy of congenital myasthenic syndromes;Engel;Neurotherapeutics,2007
4. A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin;Abicht;Neurology,1999
5. The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa;Richard;Neurology,2008
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1. Muscle magnetic resonance imaging in congenital myasthenic syndromes;Muscle & Nerve;2016-02-22
2. Assessment of the functionality and stability of detergent purified nAChR from Torpedo using lipidic matrixes and macroscopic electrophysiology;Biochimica et Biophysica Acta (BBA) - Biomembranes;2016-01
3. Defective fast inactivation recovery of Nav1.4 in congenital myasthenic syndrome;Annals of Neurology;2015-03-27
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