arginine and Autosomal Dominant Myotubular Myopathy

arginine has been researched along with Autosomal Dominant Myotubular Myopathy 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's0 (0.00)24.3611
2020's1 (33.33)2.80

Authors

AuthorsStudies
Aguayo, D; Araya-Duran, I; Canan, J; Cárdenas, AM; González-Nilo, FD; Hinostroza, F; Latorre, R; Marabolí, V; Neely, A; Rojas, M1
Darin, N; Oldfors, A; Tajsharghi, H; Tulinius, M1
Dondaine, N; Kretz, C; Laporte, J; Mandel, JL; Monroy, N; Payrastre, B; Rohde, HM; Tosch, V; Tronchère, H; Zanoteli, E1

Other Studies

3 other study(ies) available for arginine and Autosomal Dominant Myotubular Myopathy

ArticleYear
Dynamin-2 R465W mutation induces long range perturbation in highly ordered oligomeric structures.
    Scientific reports, 2020, 10-23, Volume: 10, Issue:1

    Topics: Arginine; Crystallography, X-Ray; Dynamin II; Humans; Molecular Dynamics Simulation; Mutation, Missense; Myopathies, Structural, Congenital; Protein Conformation, alpha-Helical; Protein Domains; Protein Multimerization; Tryptophan

2020
Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1).
    Neuromuscular disorders : NMD, 2005, Volume: 15, Issue:4

    Topics: Adolescent; Arginine; Child; Child, Preschool; DNA Mutational Analysis; Humans; Infant; Male; Muscle Fibers, Skeletal; Muscle Proteins; Mutation; Myopathies, Structural, Congenital; Selenoproteins

2005
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.
    Human molecular genetics, 2006, Nov-01, Volume: 15, Issue:21

    Topics: Amino Acid Sequence; Animals; Arginine; Catalytic Domain; Cell Line; Chlorocebus aethiops; Chromosomes, Human, Pair 3; COS Cells; Female; Genetic Variation; Humans; Male; Molecular Sequence Data; Muscle, Skeletal; Mutation, Missense; Myopathies, Structural, Congenital; Pedigree; Phosphatidylinositol Phosphates; Phosphoric Monoester Hydrolases; Protein Structure, Tertiary; Protein Tyrosine Phosphatases; Protein Tyrosine Phosphatases, Non-Receptor; Sequence Alignment; Transfection

2006