Compounds > arginine

arginine and Myasthenic Syndromes, Congenital

arginine has been researched along with Myasthenic Syndromes, Congenital in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (25.00)29.6817
2010's3 (75.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Brengman, JM; Deymeer, F; Durmus, H; Engel, AG; Nalini, A; Preethish-Kumar, V; Shen, S; Shen, XM; Sine, SM; Vengalil, S; Yuceyar, N1
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, S1
Abicht, A; Christen, HJ; Durmus, H; Hietala, M; Krabetz, K; Lochmüller, H; Müller, JS; Pihko, H; Rodolico, C; Schara, U; Schreiber, G; Talim, B; Topaloglu, H; Voss, W1
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, M1

Other Studies

4 other study(ies) available for arginine and Myasthenic Syndromes, Congenital

ArticleYear
Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit.
    JCI insight, 2018, 01-25, Volume: 3, Issue:2

    Topics: Adult; Arginine; Consanguinity; DNA Mutational Analysis; Evoked Potentials, Motor; Female; Glutamic Acid; HEK293 Cells; Homozygote; Humans; Muscle, Skeletal; Mutation; Myasthenic Syndromes, Congenital; Patch-Clamp Techniques; Receptors, Nicotinic; Recombinant Proteins

2018
Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.
    Neurology, 2017, Mar-14, Volume: 88, Issue:11

    Topics: Adult; Animals; Arginine; Family Health; Glycine; Humans; Male; Mice; Mice, Transgenic; Mutation; Myasthenic Syndromes, Congenital; PC12 Cells; Protein Processing, Post-Translational; Rats; RNA, Messenger; Transfection; Vesicular Acetylcholine Transport Proteins

2017
Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2010, Volume: 14, Issue:4

    Topics: Arginine; Choline O-Acetyltransferase; Electric Stimulation; Electroencephalography; Enzyme Inhibitors; Female; Genetic Predisposition to Disease; Genetic Testing; Glycine; Histidine; Humans; Longitudinal Studies; Magnetic Resonance Imaging; Male; Muscle, Skeletal; Mutation; Myasthenic Syndromes, Congenital; Receptor Protein-Tyrosine Kinases; Receptors, Cholinergic

2010
Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.
    Neurology, 2009, Dec-01, Volume: 73, Issue:22

    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