Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

(2011) Jan Senderek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ligand-binding domain of an α7-nicotinic receptor chimera and its complex with agonist

(2011) Shu-Xing Li et al.   NATURE NEUROSCIENCE

Myasthenic syndrome caused by plectinopathy

(2011) D. Selcen et al.   NEUROLOGY

Current status of the congenital myasthenic syndromes

(2011) Andrew G. Engel   NEUROMUSCULAR DISORDERS

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

(2009) Caroline Huzé et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Single-Channel Current Through Nicotinic Receptor Produced by Closure of Binding Site C-Loop

(2009) Hai-Long Wang et al.   BIOPHYSICAL JOURNAL

Binding to Gating Transduction in Nicotinic Receptors: Cys-Loop Energetically Couples to Pre-M1 and M2-M3 Regions

(2009) W. Y. Lee et al.   JOURNAL OF NEUROSCIENCE

Detection and trapping of intermediate states priming nicotinic receptor channel opening

(2009) Nuriya Mukhtasimova et al.   NATURE

Congenital myasthenia–related AChR δ subunit mutation interferes with intersubunit communication essential for channel gating

(2008) Xin-Ming Shen et al.   JOURNAL OF CLINICAL INVESTIGATION

Nicotinic Receptor Interloop Proline Anchors β1-β2 and Cys loops in Coupling Agonist Binding to Channel Gating

(2008) Won Yong Lee et al.   JOURNAL OF GENERAL PHYSIOLOGY