Congenital myasthenic syndromes: Genetic defects of the neuromuscular junction
- 1 February 2002
- journal article
- review article
- Published by Springer Nature in Current Neurology and Neuroscience Reports
- Vol. 2 (1) , 78-88
- https://doi.org/10.1007/s11910-002-0057-7
Abstract
No abstract availableKeywords
This publication has 69 references indexed in Scilit:
- Molecular Cloning of a Human, Hemicholinium-3-Sensitive Choline TransporterBiochemical and Biophysical Research Communications, 2000
- Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by ε-AChR subunit truncating mutationsHuman Genetics, 2000
- Quaternary Associations of AcetylcholinesteraseJournal of Biological Chemistry, 1997
- Defective Neuromuscular Synaptogenesis in Agrin-Deficient Mutant MiceCell, 1996
- COLLAGENS: Molecular Biology, Diseases, and Potentials for TherapyAnnual Review of Biochemistry, 1995
- Two Heparin-binding Domains Are Present on the Collagenic Tail of Asymmetric AcetylcholinesterasePublished by Elsevier ,1995
- Congenital Myasthenic Syndrome Associated with Paucity of Synaptic Vesicles and Reduced Quantal ReleaseaAnnals of the New York Academy of Sciences, 1993
- Clinical and Experimental Observations in Patients with Congenital Myasthenic SyndromesaAnnals of the New York Academy of Sciences, 1993
- Myasthenic Syndromes Attributed to Mutations Affecting the Epsilon Subunit of the Acetylcholine ReceptoraAnnals of the New York Academy of Sciences, 1993
- Congenital Lambert-Eaton myasthenic syndrome.Journal of Neurology, Neurosurgery & Psychiatry, 1987