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Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.
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Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.
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1.92
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3
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Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.
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2001
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1.90
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4
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New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
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1996
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5
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Hum Mol Genet
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1995
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1.42
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7
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Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome.
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J Gen Physiol
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2000
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1.18
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8
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Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit.
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1998
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1.17
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9
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Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?
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1999
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1.08
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10
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The spectrum of mutations causing end-plate acetylcholinesterase deficiency.
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2000
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1.07
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11
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Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly.
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J Clin Invest
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1999
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0.99
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12
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Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.
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13
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0.95
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14
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Immunohistochemical investigation of cerebral ischemia during recirculation.
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0.93
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15
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Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor.
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0.92
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16
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Differential vulnerability of microtubule components in cerebral ischemia.
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0.89
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17
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Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.
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2002
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0.87
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18
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AChR channel blockade by quinidine sulfate reduces channel open duration in the slow-channel congenital myasthenic syndrome.
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1998
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0.84
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19
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The spectrum of congenital end-plate acetylcholinesterase deficiency.
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0.83
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20
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Paraneoplastic cerebellar degeneration with a circulating antibody against neurons and non-neuronal cells.
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0.79
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21
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Prediction of stroke before and after unilateral occlusion of the common carotid artery in gerbils.
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0.78
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22
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Frameshifting and splice-site mutations in the acetylcholine receptor epsilon subunit gene in three Turkish kinships with congenital myasthenic syndromes.
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1998
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0.76
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