Current understanding of congenital myasthenic syndromes

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

2001 • 1,736 citations

Refined Structure of the Nicotinic Acetylcholine Receptor at 4Å Resolution

2004 • 1,626 citations

Structure and gating mechanism of the acetylcholine receptor pore

2003 • 1,261 citations

Safety factor at the neuromuscular junction

2001 • 398 citations

Distribution of Na+ channels and ankyrin in neuromuscular junctions is complementary to that of acetylcholine receptors and the 43 kd protein

1989 • 274 citations

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

2001 • 265 citations

Coupling of agonist binding to channel gating in an ACh-binding protein linked to an ion channel

2004 • 264 citations

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

1995 • 263 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

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

1998 • 249 citations

Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome

2002 • 237 citations

A new myasthenic syndrome with end‐plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release

1977 • 236 citations

The vertebrate neuromuscular junction

1986 • 235 citations

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

1996 • 234 citations

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

1996 • 190 citations

MUSK, a new target for mutations causing congenital myasthenic syndrome

2004 • 186 citations

Myasthenic syndrome caused by mutation of the SCN4A sodium channel

2003 • 171 citations

Mutation in the Human Acetylcholinesterase-Associated Collagen Gene, COLQ, Is Responsible for Congenital Myasthenic Syndrome with End-Plate Acetylcholinesterase Deficiency (Type Ic)

1998 • 161 citations

Congenital Myasthenic Syndromes due to Heteroallelic Nonsense/Missense Mutations in the Acetylcholine Receptor Subunit Gene: Identification and Functional Characterization of Six New Mutations

1997 • 158 citations

Absence of acetylcholinesterase at the neuromuscular junctions of perlecan-null mice

2002 • 157 citations

Implication of a multisubunit Ets-related transcription factor in synaptic expression of the nicotinic acetylcholine receptor

1998 • 153 citations

Mechanism of nicotinic acetylcholine receptor cluster formation by rapsyn

1998 • 153 citations

End‐plate acetylcholine receptor deficiency due to nonsense mutations in the ε subunit

1996 • 150 citations

MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction

2004 • 149 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

Congenital myasthenic syndromes: Progress over the past decade

2002 • 138 citations

Rapsyn mutations in hereditary myasthenia

2003 • 137 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

Treatment of slow-channel congenital myasthenic syndrome with fluoxetine

2003 • 130 citations

Quaternary Associations of Acetylcholinesterase

1997 • 128 citations

Role of Rapsyn Tetratricopeptide Repeat and Coiled-coil Domains in Self-association and Nicotinic Acetylcholine Receptor Clustering

2001 • 122 citations

Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating

1999 • 118 citations

The spectrum of mutations causing end-plate acetylcholinesterase deficiency

2000 • 117 citations

Sodium channel slow inactivation and the distribution of sodium channels on skeletal muscle fibres enable the performance properties of different skeletal muscle fibre types

1996 • 116 citations

Quinidine sulfate therapy for the slow‐channel congenital myasthenic syndrome

1998 • 114 citations

Mode Switching Kinetics Produced by a Naturally Occurring Mutation in the Cytoplasmic Loop of the Human Acetylcholine Receptor ε Subunit

1998 • 114 citations

Synapse-specific and neuregulin-induced transcription require an Ets site that binds GABPα/GABPβ

1998 • 112 citations

The synaptic acetylcholinesterase tetramer assembles around a polyproline II helix

2004 • 110 citations

A common mutation (ε1267delG) in congenital myasthenic patients of Gypsy ethnic origin

1999 • 106 citations

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

1996 • 106 citations

Interactions of the Rapsyn RING-H2 Domain with Dystroglycan

2001 • 104 citations

Identification of an Element Crucial for the Sub-synaptic Expression of the Acetylcholine Receptor ε-Subunit Gene

1996 • 96 citations

E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome

2003 • 96 citations

Properties of the human muscle nicotinic receptor, and of the slow-channel myasthenic syndrome mutant epsilonL221F, inferred from maximum likelihood fits

2003 • 89 citations

Mutation of the acetylcholine receptor ?-subunit promoter in congenital myasthenic syndrome

1999 • 86 citations

Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor ϵ subunit gene

1999 • 85 citations

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

2002 • 82 citations

Fundamental Gating Mechanism of Nicotinic Receptor Channel Revealed by Mutation Causing a Congenital Myasthenic Syndrome

2000 • 82 citations

Mutation causing congenital myasthenia reveals acetylcholine receptor β/δ subunit interaction essential for assembly

1999 • 81 citations

C-terminal and Heparin-binding Domains of Collagenic Tail Subunit Are Both Essential for Anchoring Acetylcholinesterase at the Synapse

2004 • 80 citations

Congenital myasthenic syndrome associated with episodic apnea and sudden infant death

2002 • 78 citations

Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor

1998 • 78 citations

Acetylcholine receptor δ subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita

2001 • 76 citations

Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating

2003 • 75 citations

Two Heparin-binding Domains Are Present on the Collagenic Tail of Asymmetric Acetylcholinesterase

1995 • 73 citations

Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis

2002 • 70 citations

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

2001 • 69 citations

Naturally Occurring Mutations at the Acetylcholine Receptor Binding Site Independently Alter ACh Binding and Channel Gating

2002 • 66 citations

Choline acetyltransferase structure reveals distribution of mutations that cause motor disorders

2004 • 63 citations

Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor

1998 • 56 citations

Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes

2003 • 52 citations

Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase

2003 • 51 citations

Novel functional ?-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome

1999 • 50 citations

Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor ε-subunit gene

1999 • 48 citations

Congenital myasthenic syndrome caused by low-expressor fast-channel AChR δ subunit mutation

2002 • 47 citations

A newly identified chromosomal microdeletion and an N‐box mutation of the AChRϵ gene cause a congenital myasthenic syndrome

2002 • 46 citations

Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine

2004 • 44 citations

Mutations in congenital myasthenic syndromes reveal an varepsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR

2002 • 44 citations

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome

2004 • 38 citations

Congenital

2003 • 34 citations

A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition

2004 • 34 citations

Structural insights and functional implications of choline acetyltransferase

2004 • 31 citations

Congenital Myasthenic Syndromes

2003 • 24 citations

Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders

2004 • 23 citations

Frameshifting and Splice‐Site Mutations in the Acetylcholine Receptor ɛ Subunit Gene in Three Turkish Kinships with Congenital Myasthenic Syndromes^a

1998 • 16 citations

Deleted Work

1955 • 0 citations