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myasthenic syndrome
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SCN4A
Identification of a mutation in the gene causing hyperkalemic periodic paralysis
CHRNB1
Physical map of 17p13 and the genes adjacent to p53
CHRNE
Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits
RAPSN
Overexpression of rapsyn inhibits agrin-induced acetylcholine receptor clustering in muscle cells
Role of rapsyn tetratricopeptide repeat and coiled-coil domains in self-association and nicotinic acetylcholine receptor clustering
Distinct roles of nerve and muscle in postsynaptic differentiation of the neuromuscular synapse
CHAT
Effects of colchicine application to preganglionic axons on choline acetyltransferase activity and acetylcholine content and release in the superior cervical ganglion
Study of subcellular localization of membrane-bound choline acetyltransferase in Drosophila central nervous system and its association with membranes
Studies on detergent released choline acetyltransferase from membrane fractions of rat and human brain.
Membrane-bound choline-O-acetyltransferase in rat hippocampal tissue is associated with synaptic vesicles
Choline acetyltransferase-deficient mutants of the nematode Caenorhabditis elegans
DPAGT1
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij
A sequence-tagged site map of human chromosome 11
CHRNA1
Differential expression of human nicotinic acetylcholine receptor alpha subunit variants in muscle and non-muscle tissues.
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo.
CHRND
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome