glycine has been researched along with Congenital Myasthenia in 6 studies
| Excerpt | Relevance | Reference |
|---|---|---|
| "While most congenital myasthenic syndromes are caused by defects in postsynaptic proteins, VAChT deficiency is a presynaptic myasthenic syndrome." | 1.46 | Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome. ( Aran, A; Gulsuner, S; Hershkovitz, Y; Kaneshige, K; King, MC; Lee, MK; Levy-Lahad, E; Meirson, T; Oliphant, S; Parsons, SM; Renbaum, P; Samson, AO; Segel, R; Walsh, T; Weinberg-Shukron, A; Zeligson, S, 2017) |
| "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) |
| "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 | 3 (50.00) | 29.6817 |
| 2010's | 3 (50.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Aran, A | 1 |
| Segel, R | 1 |
| Kaneshige, K | 1 |
| Gulsuner, S | 1 |
| Renbaum, P | 1 |
| Oliphant, S | 1 |
| Meirson, T | 1 |
| Weinberg-Shukron, A | 1 |
| Hershkovitz, Y | 1 |
| Zeligson, S | 1 |
| Lee, MK | 1 |
| Samson, AO | 1 |
| Parsons, SM | 1 |
| King, MC | 1 |
| Levy-Lahad, E | 1 |
| Walsh, T | 1 |
| Schara, U | 1 |
| Christen, HJ | 1 |
| Durmus, H | 1 |
| Hietala, M | 1 |
| Krabetz, K | 1 |
| Rodolico, C | 1 |
| Schreiber, G | 1 |
| Topaloglu, H | 1 |
| Talim, B | 1 |
| Voss, W | 1 |
| Pihko, H | 1 |
| Abicht, A | 1 |
| Müller, JS | 1 |
| Lochmüller, H | 1 |
| Witoonpanich, R | 1 |
| Pulkes, T | 1 |
| Dejthevaporn, C | 1 |
| Yodnopklao, P | 1 |
| Witoonpanich, P | 1 |
| Wetchaphanphesat, S | 1 |
| Brengman, JM | 1 |
| Engel, AG | 2 |
| Ishigaki, K | 1 |
| Nicolle, D | 1 |
| Krejci, E | 1 |
| Leroy, JP | 1 |
| Koenig, J | 2 |
| Fardeau, M | 1 |
| Eymard, B | 2 |
| Hantaï, D | 2 |
| Richard, P | 1 |
| Gaudon, K | 1 |
| Fournier, E | 1 |
| Jackson, C | 1 |
| Bauché, S | 1 |
| Haddad, H | 1 |
| Echenne, B | 1 |
| Shapira, YA | 1 |
| Sadeh, ME | 1 |
| Bergtraum, MP | 1 |
| Tsujino, A | 1 |
| Ohno, K | 1 |
| Shen, XM | 1 |
| Brengman, J | 1 |
| Edwardson, S | 1 |
| Matoth, I | 1 |
6 other studies available for glycine and Congenital Myasthenia
| Article | Year |
|---|---|
Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.
Topics: Adult; Animals; Arginine; Family Health; Glycine; Humans; Male; Mice; Mice, Transgenic; Mutation; My | 2017 |
Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.
Topics: Arginine; Choline O-Acetyltransferase; Electric Stimulation; Electroencephalography; Enzyme Inhibito | 2010 |
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 |
Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.
Topics: Acetylcholinesterase; Adult; Alanine; Animals; Bungarotoxins; Collagen; DNA Mutational Analysis; Exo | 2003 |
A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome.
Topics: Adolescent; Bungarotoxins; DNA Mutational Analysis; Female; Glycine; Humans; Mutation; Myasthenic Sy | 2007 |
Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.
Topics: Acetylcholinesterase; Action Potentials; Adolescent; Adult; Amino Acid Substitution; Animals; Child; | 2002 |