valine and Congenital Myasthenia

valine has been researched along with Congenital Myasthenia in 2 studies

Research

Studies (2)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	1 (50.00)	29.6817
2010's	1 (50.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Engel, AG; Giles, E; Komaki, H; Milone, M; Ohno, K; Okuno, T; Otsuka, K; Shen, XM; Takahashi, K	1
Engel, AG; Fidzianska, A; Ryniewicz, B; Shen, XM	1

Other Studies

2 other study(ies) available for valine and Congenital Myasthenia

Article	Year
Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating. Human mutation, 2016, Volume: 37, Issue:10 Topics: Amino Acid Substitution; Child; Female; Humans; Infant, Newborn; Male; Myasthenic Syndromes, Congenital; Pedigree; Protein Domains; Receptors, Nicotinic; Sequence Analysis, DNA; Valine; Young Adult	2016
IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit. Neuromuscular disorders : NMD, 2005, Volume: 15, Issue:11 Topics: Acetylcholine; Adult; Bungarotoxins; Cell Line; DNA Mutational Analysis; Dose-Response Relationship, Drug; Female; Humans; Iodine Isotopes; Membrane Potentials; Microscopy, Electron, Transmission; Molecular Sequence Data; Muscle, Skeletal; Mutation; Myasthenic Syndromes, Congenital; Myositis, Inclusion Body; Patch-Clamp Techniques; Protein Binding; Radioligand Assay; Receptors, Nicotinic; Transfection; Valine	2005

Article

Year

Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating.

Human mutation, 2016, Volume: 37, Issue:10

Topics: Amino Acid Substitution; Child; Female; Humans; Infant, Newborn; Male; Myasthenic Syndromes, Congenital; Pedigree; Protein Domains; Receptors, Nicotinic; Sequence Analysis, DNA; Valine; Young Adult

2016

IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit.

Neuromuscular disorders : NMD, 2005, Volume: 15, Issue:11

Topics: Acetylcholine; Adult; Bungarotoxins; Cell Line; DNA Mutational Analysis; Dose-Response Relationship, Drug; Female; Humans; Iodine Isotopes; Membrane Potentials; Microscopy, Electron, Transmission; Molecular Sequence Data; Muscle, Skeletal; Mutation; Myasthenic Syndromes, Congenital; Myositis, Inclusion Body; Patch-Clamp Techniques; Protein Binding; Radioligand Assay; Receptors, Nicotinic; Transfection; Valine

2005