asparagine and Charcot-Marie-Tooth Disease

asparagine has been researched along with Charcot-Marie-Tooth Disease in 7 studies

Research

Studies (7)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's6 (85.71)29.6817
2010's1 (14.29)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
Komaki, H; Saito, Y; Sasaki, M; Takashima, H; Yonekawa, T1
Drac, H; Hausmanowa-Petrusewicz, I; Jedrzejowska, H; KochaƄski, A1
Ginsberg, L; Houlden, H; King, RH; Muddle, JR; Orrell, RW; Reilly, MM; Warner, TT1
Baas, F; Bienfait, HM; de Visser, M; Meggouh, F; Weterman, MA1
Grid, D; Lagrange, E; Magdelaine, C; Magy, L; Sturtz, F; Tazir, M; Vallat, JM1
Alifano, P; Bucci, C; De Luca, A; Progida, C; Spinosa, MR1

Other Studies

7 other study(ies) available for asparagine 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
Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.
    Pediatric neurology, 2013, Volume: 48, Issue:1

    Topics: Asparagine; Aspartic Acid; Charcot-Marie-Tooth Disease; Child, Preschool; Humans; Male; Myelin P0 Protein; Sural Nerve

2013
Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.
    European journal of neurology, 2003, Volume: 10, Issue:5

    Topics: Asparagine; Charcot-Marie-Tooth Disease; Child, Preschool; Female; Humans; Lysine; Male; Mutation; Myelin P0 Protein; Myelin Sheath; Pedigree

2003
A novel RAB7 mutation associated with ulcero-mutilating neuropathy.
    Annals of neurology, 2004, Volume: 56, Issue:4

    Topics: Adaptor Proteins, Signal Transducing; Amino Acid Sequence; Animals; Asparagine; Biopsy; Carrier Proteins; Charcot-Marie-Tooth Disease; DNA Mutational Analysis; Family Health; Functional Laterality; Hereditary Sensory and Autonomic Neuropathies; Humans; Immunohistochemistry; In Vitro Techniques; Male; Middle Aged; Mutation; Neural Conduction; rab GTP-Binding Proteins; rab7 GTP-Binding Proteins; Staining and Labeling; Sural Nerve; Threonine

2004
Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.
    Neurology, 2006, Oct-24, Volume: 67, Issue:8

    Topics: Acyltransferases; Adult; Asparagine; Charcot-Marie-Tooth Disease; Cytosine; Foot Ulcer; Genetic Variation; Guanine; Heterozygote; Humans; Lysine; Male; Mutation, Missense; Pedigree; rab GTP-Binding Proteins; rab7 GTP-Binding Proteins; Serine C-Palmitoyltransferase

2006
Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance.
    Acta neuropathologica, 2007, Volume: 113, Issue:4

    Topics: Adult; Asparagine; Charcot-Marie-Tooth Disease; Child; Consanguinity; Demyelinating Diseases; DNA Mutational Analysis; Female; Genes, Recessive; Humans; Microscopy, Electron, Transmission; Mutation; Myelin P0 Protein; Myelin Sheath; Peripheral Nerves; Phenylalanine; Serine; Tyrosine

2007
Characterization of the Rab7K157N mutant protein associated with Charcot-Marie-Tooth type 2B.
    Biochemical and biophysical research communications, 2008, Jul-25, Volume: 372, Issue:2

    Topics: Adaptor Proteins, Signal Transducing; Amino Acid Sequence; Asparagine; Cell Cycle Proteins; Charcot-Marie-Tooth Disease; Conserved Sequence; ErbB Receptors; Guanosine Triphosphate; Humans; Hydrolysis; Lysine; Mutation, Missense; Nuclear Proteins; rab GTP-Binding Proteins; rab7 GTP-Binding Proteins; RNA Interference

2008