A β‐subunit mutation in the acetylcholine receptor channel gate causes severe slow‐channel syndrome
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References (32)
Acetylcholine receptor channel imaged in the open state
1995 • 1,002 citations
Molecular distinction between fetal and adult forms of muscle acetylcholine receptor
1986 • 979 citations
Nicotinic Acetylcholine Receptor an 9 Å Resolution
1993 • 822 citations
Cloning and sequence analysis of calf cDNA and human genomic DNA encoding α-subunit precursor of muscle acetylcholine receptor
1983 • 433 citations
Channel gating governed symmetrically by conserved leucine residues in the M2 domain of nicotinic receptors
1995 • 304 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
Structure of nicotinic acetylcholine receptors
1993 • 234 citations
HISTOMETRIC ANALYSIS OF THE ULTRASTRUCTURE OF THE NEUROMUSCULAR JUNCTION IN MY ASTHENIA GRAVIS AND IN THE MYASTHENIC SYNDROME*
1971 • 210 citations
A mutated acetylcholine receptor subunit causes neuronal degeneration in C. elegans
1995 • 203 citations
A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671
1989 • 186 citations
Maggot's hair and bug's eye: Role of cell interactions and intrinsic factors in cell fate specification
1995 • 180 citations
Isolation of a clone coding for the alpha-subunit of a mouse acetylcholine receptor
1985 • 169 citations
A new stain for quantitative measurement of sprouting at neuromuscular junctions
1978 • 156 citations
Isolation and characterization of a cDNA clone for the complete protein coding region of the delta subunit of the mouse acetylcholine receptor.
1984 • 155 citations
Structure linkage, and sequence of the two genes encoding the delta and gamma subunits of the nicotinic acetylcholine receptor.
1984 • 132 citations
THE SLOW CHANNEL SYNDROME
1987 • 75 citations
Primary structure of the human muscle acetylcholine receptor
1993 • 73 citations
Measurement of junctional acetylcholine receptors in myasthenia gravis: Clinical correlates
1985 • 70 citations
Isolation and characterization of the β and ε subunit genes of mouse muscle acetylcholine receptor
1989 • 69 citations
A leucine‐to‐phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow‐channel syndrome
1995 • 62 citations
Myasthenic Syndromes Attributed to Mutations Affecting the Epsilon Subunit of the Acetylcholine Receptora
1993 • 42 citations
Anconeus muscle: A human muscle preparation suitable for in‐vitro microelectrode studies
1991 • 39 citations
Neuromuscular plasticity following limb immobilization
1984 • 37 citations
Nucleotide sequence of human muscle acetylcholine receptor β-subunit
1989 • 37 citations
Congenital paucity of secondary synaptic clefts (CPSC) syndrome in 2 adult sibs
1989 • 29 citations
A transgenic mouse model of the slow-channel syndrome
1996 • 28 citations
Nucleotide sequence of the ε-subunit of the mouse muscle nicotinic acetylcholine receptor
1990 • 28 citations
Effects of a monoclonal anti‐acetylcholine receptor antibody on the avian end‐plate.
1989 • 28 citations
The kyoto surprise box
1995 • 11 citations
Five Subunit Genes of the Human Muscle Nicotinic Acetylcholine Receptor Are Mapped to Two Linkage Groups on Chromosomes 2 and 17
1993 • 9 citations