threonine and Congenital Myasthenia

threonine has been researched along with Congenital Myasthenia in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (66.67)29.6817
2010's1 (33.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Ginsberg, M; Lerman-Sagie, T; Leshinsky-Silver, E; Lev, D; Shapira, D; Yosovitz, K1
Abicht, A; Bufler, J; Huebner, A; Krampfl, K; Lochmüller, H; Mildner, G; Mortier, W; Petrova, S; Schara, U; Schmidt, C; Stucka, R; Voss, W1
Brewer, D; Dobransky, T; Doherty-Kirby, A; Kim, AR; Lajoie, G; Rylett, RJ1

Other Studies

3 other study(ies) available for threonine and Congenital Myasthenia

ArticleYear
A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.
    Journal of the neurological sciences, 2012, May-15, Volume: 316, Issue:1-2

    Topics: Amino Acid Sequence; Female; Genetic Carrier Screening; Humans; Infant; Male; Molecular Sequence Data; Muscle Proteins; Mutation; Myasthenic Syndromes, Congenital; Pedigree; Protein Structure, Tertiary; Threonine

2012
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase.
    Neuromuscular disorders : NMD, 2003, Volume: 13, Issue:3

    Topics: Adolescent; Apnea; Child; Choline O-Acetyltransferase; DNA Mutational Analysis; Female; Genetic Linkage; Haplotypes; Homozygote; Humans; Isoleucine; Lod Score; Mutation, Missense; Myasthenic Syndromes, Congenital; Pedigree; Restriction Mapping; Sequence Alignment; Threonine

2003
Protein kinase C isoforms differentially phosphorylate human choline acetyltransferase regulating its catalytic activity.
    The Journal of biological chemistry, 2004, Dec-10, Volume: 279, Issue:50

    Topics: Amino Acid Sequence; Binding Sites; Catalytic Domain; Cell Line; Choline O-Acetyltransferase; Enzyme Activation; Humans; In Vitro Techniques; Isoenzymes; Mutagenesis, Site-Directed; Myasthenic Syndromes, Congenital; Neurons; Phosphorylation; Protein Kinase C; Recombinant Proteins; Serine; Spectrometry, Mass, Electrospray Ionization; Threonine

2004