Compounds > isoleucine

isoleucine and Charcot-Marie-Tooth Disease

isoleucine has been researched along with Charcot-Marie-Tooth Disease in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's4 (80.00)29.6817
2010's1 (20.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Baloh, RH; Fahrner, T; Le, N; Milbrandt, J; Nagarajan, R; Ryu, E; Strickland, A; Yang, M1
Blake, J; Bremner, F; Laurá, M; Murphy, SM; Polke, J; Reilly, MM1
Fajkusova, L; Hermanova, M; Seeman, P; Vondracek, P1
Drac, H; Goryunov, D; Hausmanowa-Petrusewicz, I; Kabzińska, D; Kochański, A; Liem, RK; Perez-Olle, R; Ryniewicz, B1
Matsuyama, W; Nakagawa, M; Osame, M; Takashima, H1

Other Studies

5 other study(ies) available for isoleucine and Charcot-Marie-Tooth Disease

ArticleYear
Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation.
    The Journal of neuroscience : the official journal of the Society for Neuroscience, 2009, Feb-25, Volume: 29, Issue:8

    Topics: Animals; Asparagine; Cell Line, Transformed; Cell Proliferation; Charcot-Marie-Tooth Disease; Cranial Nerve Diseases; Disease Models, Animal; Early Growth Response Protein 2; Humans; Immunoprecipitation; Isoleucine; Mice; Mice, Transgenic; Microscopy, Electron, Transmission; Myelin Proteins; Neoplasm Proteins; Neural Conduction; Ranvier's Nodes; Repressor Proteins; Schwann Cells; Sciatic Nerve

2009
Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.
    Neuromuscular disorders : NMD, 2011, Volume: 21, Issue:3

    Topics: Adult; Charcot-Marie-Tooth Disease; Humans; Isoleucine; Male; Mutation; Myelin P0 Protein; Neural Conduction; Pupil; Threonine

2011
X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene.
    Muscle & nerve, 2005, Volume: 31, Issue:2

    Topics: Adolescent; Adult; Charcot-Marie-Tooth Disease; Chromosomes, Human, X; Connexins; Female; Gap Junction beta-1 Protein; Gene Expression Regulation; Genetic Linkage; Humans; Isoleucine; Male; Middle Aged; Mutation; Pedigree; Phenotype; Serine

2005
Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.
    Journal of the peripheral nervous system : JPNS, 2006, Volume: 11, Issue:3

    Topics: Adolescent; Biological Transport; Blotting, Western; Carcinoma; Cell Line, Tumor; Charcot-Marie-Tooth Disease; Child; DNA Mutational Analysis; Family Health; Female; Humans; Isoleucine; Male; Methionine; Models, Molecular; Mutation; Neurofilament Proteins; Transfection; Vimentin

2006
Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B.
    Acta neuropathologica, 2002, Volume: 103, Issue:5

    Topics: Adult; Amino Acid Sequence; Animals; Cell Adhesion; Charcot-Marie-Tooth Disease; Child; DNA; Female; Gene Expression; Humans; Immunohistochemistry; Isoleucine; Molecular Sequence Data; Mutagenesis, Site-Directed; Mutation; Myelin P0 Protein; PC12 Cells; Phenotype; Phenylalanine; Protein Folding; Protein Structure, Tertiary; Protein Transport; Rats; Transfection

2002