Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes

Crystal structure of an ACh-binding protein reveals the ligand-binding domain of nicotinic receptors

2001 • 1,736 citations

Nicotinic Receptors at the Amino Acid Level

2000 • 795 citations

Fitting and Statistical Analysis of Single-Channel Records

1995 • 333 citations

Mutation of the acetylcholine receptor α subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity

1995 • 263 citations

A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine‐induced ion channel

1982 • 259 citations

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.

1995 • 252 citations

Congenital Myasthenic Syndrome Caused by Decreased Agonist Binding Affinity Due to a Mutation in the Acetylcholine Receptor ε Subunit

1996 • 234 citations

Single‐channel activations and concentration jumps: comparison of recombinant NR1a/NR2A and NR1a/NR2D NMDA receptors

1998 • 231 citations

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome

1996 • 190 citations

Identification of Acetylcholine Receptor Channel-Lining Residues in the M1 Segment of the .alpha.-Subunit

1995 • 179 citations

Mutations in Different Functional Domains of the Human Muscle Acetylcholine Receptor Subunit in Patients with the Slow-Channel congenital Myasthenic Syndrome

1997 • 148 citations

Mutation in the M1 Domain of the Acetylcholine Receptor α Subunit Decreases the Rate of Agonist Dissociation

1997 • 137 citations

Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.

1997 • 135 citations

Slow-Channel Myasthenic Syndrome Caused By Enhanced Activation, Desensitization, and Agonist Binding Affinity Attributable to Mutation in the M2 Domain of the Acetylcholine Receptor α Subunit

1997 • 122 citations

A β‐subunit mutation in the acetylcholine receptor channel gate causes severe slow‐channel syndrome

1996 • 106 citations

Mechanisms of Activation of Muscle Nicotinic Acetylcholine Receptors and the Time Course of Endplate Currents

1995 • 82 citations

THE SLOW CHANNEL SYNDROME

1987 • 75 citations

Primary structure of the human muscle acetylcholine receptor

1993 • 73 citations

Novel delta subunit mutation in slow‐channel syndrome causes severe weakness by novel mechanisms

2001 • 69 citations

A leucine‐to‐phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow‐channel syndrome

1995 • 62 citations

Properties of single ion channel currents elicted by a pulse of agonist concentration or voltage

1997 • 39 citations

Deactivation and desensitization of mouse embryonic- and adult-type nicotinic receptor channel currents

2001 • 21 citations

Congenital myasthenic Syndromes

1999 • 20 citations

Mutations affecting muscle nicotinic acetylcholine receptors and their role in congenital myasthenic syndromes

2000 • 10 citations