serine has been researched along with Myasthenic Syndromes, Congenital in 2 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
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 |
|---|---|---|
| "The slow-channel congenital myasthenic syndrome (SCCMS) is an autosomal dominant neuromuscular disorder caused by mutations in different subunits of the acetylcholine receptor (AChR)." | 1.37 | Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship. ( Brengman, JM; Dejthevaporn, C; Engel, AG; Pulkes, T; Wetchaphanphesat, S; Witoonpanich, P; Witoonpanich, R; Yodnopklao, P, 2011) |
| 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 | Studies |
|---|---|
| Witoonpanich, R | 1 |
| Pulkes, T | 1 |
| Dejthevaporn, C | 1 |
| Yodnopklao, P | 1 |
| Witoonpanich, P | 1 |
| Wetchaphanphesat, S | 1 |
| Brengman, JM | 1 |
| Engel, AG | 1 |
| Dobransky, T | 1 |
| Doherty-Kirby, A | 1 |
| Kim, AR | 1 |
| Brewer, D | 1 |
| Lajoie, G | 1 |
| Rylett, RJ | 1 |
2 other studies available for serine and Myasthenic Syndromes, Congenital
| Article | Year |
|---|---|
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship.
Topics: Adult; Aged; Child; Child, Preschool; Family Health; Female; Glycine; Humans; Male; Middle Aged; Mut | 2011 |
Protein kinase C isoforms differentially phosphorylate human choline acetyltransferase regulating its catalytic activity.
Topics: Amino Acid Sequence; Binding Sites; Catalytic Domain; Cell Line; Choline O-Acetyltransferase; Enzyme | 2004 |