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

This publication has 28 references indexed in Scilit:

• Mutation in the Human Acetylcholinesterase-Associated Collagen Gene, COLQ, Is Responsible for Congenital Myasthenic Syndrome with End-Plate Acetylcholinesterase Deficiency (Type Ic)
  American Journal of Human Genetics, 1998
• Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme
  Proceedings of the National Academy of Sciences, 1998
• Nonmyogenic Factors Bind Nicotinic Acetylcholine Receptor Promoter Elements Required for Response to Denervation
  Published by Elsevier ,1998
• REVIEW ■ : Molecular Basis of Congenital Myasthenic Syndromes: Mutations in the Acetylcholine Receptor
  The Neuroscientist, 1998
• Congenital myasthenic syndromes: Experiments of nature
  Journal of Physiology-Paris, 1998
• Agrin orchestrates synaptic differentiation at the vertebrate neuromuscular junction
  Trends in Neurosciences, 1998
• Identification and Characterization of a 47 Base Pair Activity-Dependent Enhancer of the Rat Nicotinic Acetylcholine Receptor δ-Subunit Promoter
  Journal of Neuroscience, 1996
• In vivo and in vitro analysis of electricalactivity-dependent expression of muscle acetylcholine receptor genes usingadenovirus.
  Proceedings of the National Academy of Sciences, 1994
• Synaptic structure and development: The neuromuscular junction
  Cell, 1993
• Identification of a myocyte nuclear factor that binds to the muscle-specific enhancer of the mouse muscle creatine kinase gene.
  Molecular and Cellular Biology, 1989