threonine and Batten Turner Congenital Myopathy

threonine has been researched along with Batten Turner Congenital Myopathy in 3 studies

Research

Studies (3)

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

Authors

AuthorsStudies
Chang, LI; Chen, PR; Hsiao, KM; Jou, SB; Pan, H1
Fontaine, B; George, AL; Lhuillier, L; Plassart-Schiess, E; Tabti, N1
Fahlke, C; George, AL; Giger, U; Patterson, DF; Rhodes, TH; Vite, CH1

Other Studies

3 other study(ies) available for threonine and Batten Turner Congenital Myopathy

ArticleYear
Novel CLCN1 mutations in Taiwanese patients with myotonia congenita.
    Journal of neurology, 2004, Volume: 251, Issue:6

    Topics: Adolescent; Adult; Aspartic Acid; Child; Chloride Channels; DNA Mutational Analysis; Female; Glycine; Humans; Isoleucine; Male; Mutation, Missense; Myotonia Congenita; Phenylalanine; Polymorphism, Genetic; Proline; Serine; Taiwan; Threonine

2004
Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line.
    The Journal of physiology, 1998, Mar-15, Volume: 507 ( Pt 3)

    Topics: Cell Line; DNA Primers; Humans; Isoleucine; Kidney; Membrane Potentials; Muscle, Skeletal; Mutagenesis, Site-Directed; Myotonia Congenita; Patch-Clamp Techniques; Point Mutation; Potassium; Recombinant Proteins; Sodium Channels; Temperature; Threonine; Transfection

1998
A missense mutation in canine C1C-1 causes recessive myotonia congenita in the dog.
    FEBS letters, 1999, Jul-30, Volume: 456, Issue:1

    Topics: Amino Acid Sequence; Animals; Blotting, Northern; Chloride Channels; Disease Models, Animal; DNA Primers; Dogs; Electrophysiology; Genes, Recessive; Homozygote; Methionine; Molecular Sequence Data; Muscle, Skeletal; Mutation, Missense; Myotonia Congenita; Pedigree; Polymerase Chain Reaction; Recombinant Proteins; Sequence Homology, Amino Acid; Threonine

1999