proline has been researched along with Congenital Myasthenia in 5 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 4 (80.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 1 (20.00) | 2.80 |
| Authors | Studies |
|---|---|
| Govindarajan, R; Singh, S | 1 |
| Abicht, A; Abuzeid, HA; El-Sadig, SM; Guergueltcheva, V; Huebner, A; Lochmüller, H; Mihaylova, V; Mukhtar, MM; Müller, JS; Nürnberg, G; Salih, MA; von der Hagen, M | 1 |
| Brengman, JM; De Vivo, DC; Engel, AG; Fukudome, T; Ohno, K; Packer, RJ; Shen, XM; Tsujino, A | 1 |
| Colquhoun, D; Shelley, C | 1 |
| Korngreen, A; Peter, C; Witzemann, V | 1 |
5 other study(ies) available for proline and Congenital Myasthenia
| Article | Year |
|---|---|
Presentation and management of congenital myasthenic syndrome with a homozygous Agrin variant (Pro1448Leu).
Topics: Adolescent; Agrin; Cholinesterase Inhibitors; Diagnosis, Differential; Disease Management; Female; Genetic Variation; Homozygote; Humans; Leucine; Myasthenic Syndromes, Congenital; Proline; Pyridostigmine Bromide | 2020 |
Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.
Topics: Adolescent; Arginine; Cholinesterase Inhibitors; DNA Mutational Analysis; Family Health; Female; Humans; Longitudinal Studies; Male; Mutation; Myasthenic Syndromes, Congenital; Phenotype; Proline; Pyridostigmine Bromide; Receptor Protein-Tyrosine Kinases; Receptors, Cholinergic; Young Adult | 2009 |
Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.
Topics: Acetylcholine; Acetylcholinesterase; Adolescent; Adult; Amino Acid Sequence; Amino Acid Substitution; Bungarotoxins; Cell Line; Child; DNA Mutational Analysis; Electrophysiology; Female; Humans; Kinetics; Male; Membrane Potentials; Molecular Sequence Data; Motor Endplate; Muscle, Skeletal; Mutation, Missense; Myasthenic Syndromes, Congenital; Patch-Clamp Techniques; Proline; Receptors, Cholinergic | 2002 |
A human congenital myasthenia-causing mutation (epsilon L78P) of the muscle nicotinic acetylcholine receptor with unusual single channel properties.
Topics: Acetylcholine; Binding Sites; Cell Line; Dose-Response Relationship, Drug; Humans; Leucine; Likelihood Functions; Mutation; Myasthenic Syndromes, Congenital; Proline; Receptors, Nicotinic | 2005 |
Mutation of single murine acetylcholine receptor subunits reveals differential contribution of P121 to acetylcholine binding and channel opening.
Topics: Acetylcholine; Animals; Bungarotoxins; Humans; Mice; Myasthenic Syndromes, Congenital; Oocytes; Patch-Clamp Techniques; Point Mutation; Proline; Receptors, Nicotinic; Recombinant Proteins; Xenopus laevis | 2005 |