alanine has been researched along with Myasthenic Syndromes, Congenital in 1 studies
Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.
alanine : An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2.
Myasthenic Syndromes, Congenital: A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
| Excerpt | Relevance | Reference |
|---|---|---|
| "We identified two new cases of congenital myasthenic syndromes with endplate acetylcholinesterase deficiency." | 1.32 | Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency. ( Eymard, B; Fardeau, M; Hantaï, D; Ishigaki, K; Koenig, J; Krejci, E; Leroy, JP; Nicolle, D, 2003) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Ishigaki, K | 1 |
| Nicolle, D | 1 |
| Krejci, E | 1 |
| Leroy, JP | 1 |
| Koenig, J | 1 |
| Fardeau, M | 1 |
| Eymard, B | 1 |
| Hantaï, D | 1 |
1 other study available for alanine and Myasthenic Syndromes, Congenital
| Article | Year |
|---|---|
Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.
Topics: Acetylcholinesterase; Adult; Alanine; Animals; Bungarotoxins; Collagen; DNA Mutational Analysis; Exo | 2003 |