Page last updated: 2024-08-17

aspartic acid and Batten Turner Congenital Myopathy

aspartic acid 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's1 (33.33)18.2507
2000's2 (66.67)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
Grimm, T; Kress, W; Schoser, BG; Schröder, JM; Sternberg, D1
Fahlke, C; George, AL; Mitrovic, N; Rüdel, R; Zhou, M1

Other Studies

3 other study(ies) available for aspartic acid 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
A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.
    Muscle & nerve, 2007, Volume: 35, Issue:5

    Topics: Adult; Aged; Aged, 80 and over; Alanine; Amino Acid Substitution; Aspartic Acid; Cold Temperature; DNA Mutational Analysis; Female; Germany; Heterozygote; Humans; Male; Middle Aged; Mutation, Missense; Myotonia Congenita; NAV1.4 Voltage-Gated Sodium Channel; Pedigree; Sodium Channels

2007
An aspartic acid residue important for voltage-dependent gating of human muscle chloride channels.
    Neuron, 1995, Volume: 15, Issue:2

    Topics: Action Potentials; Animals; Aspartic Acid; Base Sequence; Cell Line, Transformed; Chloride Channels; DNA, Complementary; Humans; Ion Channel Gating; Kidney; Molecular Sequence Data; Muscle Proteins; Muscle, Skeletal; Mutagenesis, Site-Directed; Myotonia Congenita; Oocytes; Point Mutation; Polymerase Chain Reaction; Protein Conformation; Recombinant Fusion Proteins; Sarcolemma; Structure-Activity Relationship; Transfection; Xenopus laevis

1995