Found: 15
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Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating.
- Published in:
- Journal of Clinical Investigation, 2012, v. 122, n. 7, p. 2613, doi. 10.1172/JCI63415
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- Publication type:
- Article
Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating.
- Published in:
- 2012
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- Publication type:
- journal article
AChR Channel Blockade by Quinidine Sulfate Reduces Channel Open Duration in the Slow-Channel Congenital Myasthenic Syndrome<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1998, v. 841, n. 1, p. 199, doi. 10.1111/j.1749-6632.1998.tb10928.x
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- Article
Frameshifting and Splice-Site Mutations in the Acetylcholine Receptor ɛ Subunit Gene in Three Turkish Kinships with Congenital Myasthenic Syndromes<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1998, v. 841, n. 1, p. 189, doi. 10.1111/j.1749-6632.1998.tb10926.x
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- Article
Paraneoplastic cerebellar degeneration with a circulating antibody against neurons and non-neuronal cells.
- Published in:
- Acta Neuropathologica, 1993, v. 86, n. 2, p. 206, doi. 10.1007/BF00334892
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- Publication type:
- Article
Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome.
- Published in:
- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 2, p. 130, doi. 10.1002/acn3.387
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- Publication type:
- Article
Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating.
- Published in:
- Nature Neuroscience, 1999, v. 2, n. 5, p. 485, doi. 10.1038/8161
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- Publication type:
- Article
Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating.
- Published in:
- Nature Neuroscience, 1999, v. 2, n. 3, p. 226, doi. 10.1038/6326
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- Publication type:
- Article
FURTHER EVALUATION OF POLYPEPTIDE SYNTHESIS IN CEREBRAL ANOXIA, HYPOXIA AND ISCHEMIA.
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- Journal of Neurochemistry, 1978, v. 31, n. 5, p. 1277, doi. 10.1111/j.1471-4159.1978.tb06252.x
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- Publication type:
- Article
Functional consequences and structural interpretation of mutations of human choline acetyltransferase.
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- Human Mutation, 2011, v. 32, n. 11, p. 1259, doi. 10.1002/humu.21560
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- Publication type:
- Article
E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 7, p. 739, doi. 10.1093/hmg/ddg089
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- Publication type:
- Article
The spectrum of mutations causing end-plate acetylcholinesterase deficiency.
- Published in:
- Annals of Neurology, 2000, v. 47, n. 2, p. 162, doi. 10.1002/1531-8249(200002)47:2<162::AID-ANA5>3.0.CO;2-Q
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- Publication type:
- Article
Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.
- Published in:
- Annals of Neurology, 1998, v. 44, n. 2, p. 234, doi. 10.1002/ana.410440214
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- Publication type:
- Article
Congenital Myasthenic Syndromes due to Heteroallelic Nonsense/Missense Mutations in the Acetylcholine Receptor ε Subunit Gene: Identification and Functional Characterization of Six New Mutations.
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- Human Molecular Genetics, 1997, v. 6, n. 5, p. 753, doi. 10.1093/hmg/6.5.753
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- Publication type:
- Article
New Mutations in Acetylcholine Receptor Subunit Genes Reveal Heterogeneity in the Slow-Channel Congenital Myasthenic Syndrome.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 9, p. 1217, doi. 10.1093/hmg/5.9.1217
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- Publication type:
- Article