Congenital Myasthenic Syndromes: Multiple Molecular Targets at the Neuromuscular Junction

COLLAGENS: Molecular Biology, Diseases, and Potentials for Therapy

1995 • 1,599 citations

A study of the ‘desensitization’ produced by acetylcholine at the motor end‐plate

1957 • 1,457 citations

Defective Neuromuscular Synaptogenesis in Agrin-Deficient Mutant Mice

1996 • 915 citations

Agrin Acts via a MuSK Receptor Complex

1996 • 653 citations

The binding of acetylcholine to receptors and its removal from the synaptic cleft

1973 • 576 citations

Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice

1995 • 530 citations

Functional identification of a vesicular acetylcholine transporter and its expression from a “cholinergic” gene locus.

1994 • 383 citations

Identification and characterization of the high-affinity choline transporter

2000 • 323 citations

Maintenance of Acetylcholine Receptor Number by Neuregulins at the Neuromuscular Junction in Vivo

1997 • 272 citations

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

2001 • 265 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

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

1998 • 249 citations

Rapsyn Is Required for MuSK Signaling and Recruits Synaptic Components to a MuSK-Containing Scaffold

1997 • 243 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

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

1996 • 234 citations

Absence of α-Syntrophin Leads to Structurally Aberrant Neuromuscular Synapses Deficient in Utrophin

2000 • 223 citations

Subtle Neuromuscular Defects in Utrophin-deficient Mice

1997 • 216 citations

The Cholinergic Gene Locus

1998 • 201 citations

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

1996 • 190 citations

Molecular Cloning of a Human, Hemicholinium-3-Sensitive Choline Transporter

2000 • 181 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

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

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

Heregulin-stimulated acetylcholine receptor gene expression in muscle: requirement for MAP kinase and evidence for a parallel inhibitory pathway independent of electrical activity

1997 • 130 citations

Treatment of slow-channel congenital myasthenic syndrome with fluoxetine

2003 • 130 citations

Quaternary Associations of Acetylcholinesterase

1997 • 128 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

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

2001 • 122 citations

The Extracellular Linker of Muscle Acetylcholine Receptor Channels Is a Gating Control Element

2000 • 121 citations

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

1999 • 118 citations

Congential Endplate acetylocholinesterase deficiency

1993 • 118 citations

Vesicular neurotransmitter transport and the presynaptic regulation of quantal size

1998 • 118 citations

Synaptic vesicle abnormality in familial infantile myasthenia

1987 • 117 citations

The spectrum of mutations causing end-plate acetylcholinesterase deficiency

2000 • 117 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

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

1996 • 106 citations

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

1999 • 106 citations

Interactions of the Rapsyn RING-H2 Domain with Dystroglycan

2001 • 104 citations

Induction of Acetylcholine Receptor Gene Expression by ARIA Requires Activation of Mitogen-activated Protein Kinase

1996 • 103 citations

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

2003 • 96 citations

Quaternary Associations of Acetylcholinesterase

1997 • 89 citations

Serum choline activates mutant acetylcholine receptors that cause slow channel congenital myasthenic syndromes

1999 • 87 citations

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

1999 • 86 citations

Agrin-induced Activation of Acetylcholine Receptor-bound Src Family Kinases Requires Rapsyn and Correlates with Acetylcholine Receptor Clustering

2001 • 85 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

Effects of the quinoline derivatives quinine, quinidine, and chloroquine on neuromuscular transmission

1996 • 80 citations

Endplates after esterase inactivationin vivo: correlation between esterase concentration, functional response and fine structure

1979 • 80 citations

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?

1999 • 80 citations

Congenital myasthenic syndrome associated with episodic apnea and sudden infant death

2002 • 78 citations

A complementary DNA for human choline acetyltransferase induces two forms of enzyme with different molecular weights in cultured cells

1992 • 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

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

2001 • 70 citations

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

2001 • 69 citations

Congenital Myasthenic Syndrome Associated with Paucity of Synaptic Vesicles and Reduced Quantal Releasea

1993 • 64 citations

Familial Infantile Myasthenia

1980 • 64 citations

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

1998 • 56 citations

End-plate gamma- and varepsilon-subunit mRNA levels in AChR deficiency syndrome due to varepsilon-subunit null mutations

2001 • 56 citations

Analysis of the organophosphate‐induced electromyographic response to repetitive nerve stimulation: Paradoxical response to edrophonium and <scp>D</scp>‐Tubocurarine

1991 • 53 citations

Congenital Myasthenic Syndromes

1988 • 53 citations

Three novel COLQ mutations and variation of phenotypic expressivity due to G240X

2002 • 53 citations

Square-wave jerks induced by pallidotomy in parkinsonian patients

1999 • 52 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

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

2002 • 46 citations

Apraxic agraphia due to thalamic infarction

2000 • 34 citations

A Novel Mechanism for Modulating Synaptic Gene Expression: Differential Localization of α-Dystrobrevin Transcripts in Skeletal Muscle

2001 • 34 citations

Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by ε-AChR subunit truncating mutations

2000 • 29 citations

Congenital myasthenic syndromes

1985 • 27 citations

Severe congenital myasthenic syndrome due to homozygosity of the 1293insG ε-acetylcholine receptor subunit mutation

2000 • 20 citations

Mechanistic Diversity Underlying Fast Channel Congenital Myasthenic Syndromes

2003 • 13 citations

Electrodiagnosis Of Endplate Disease

1999 • 12 citations

Confirmation by immunogold labeling that utrophin is localised to the normal position of dystrophin in dystrophin-negative transgenic mouse muscle

2001 • 2 citations

A 16-bp duplication of splice-acceptor site results in silencing of the downstream copy of the splice-acceptor site How are duplicated splice-acceptor sites selected in pre-mRNA splicing?

2001 • 2 citations

Deleted Work

1955 • 0 citations