glutamine and Charcot-Marie-Tooth Disease

glutamine 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's4 (57.14)29.6817
2010's3 (42.86)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Alberti, JM; Baloh, RH; Biris, N; Dorn, GW; Franco, A; Gavathiotis, E; Janetka, JW; Kitsis, RN; Knight, WC; Krezel, AM; Mochly-Rosen, D; Rocha, AG; Rumsey, JM; Townsend, RR; Zacharioudakis, E1
Berciano, J; De Vriendt, E; Gallardo, E; García, A; Infante, J; Jordanova, A; Peeters, K; Pelayo-Negro, AL1
Arnaud, E; Cartoni, R; Chrast, R; Courvoisier, DS; Martinou, JC; Médard, JJ; Poirot, O1
Azzedine, H; Brice, A; Dubourg, O; Ente, D; Gilardeau, C; LeGuern, E; Périé, S; Ruberg, M; Wechsler, B1
Inoue, H; Kanazawa, H; Matsushita, M; Nakamura, N; Tanaka, S1
Baránková, L; Horácek, O; Hühne, K; Mazanec, R; Mikesová, E; Rautenstrauss, B; Seeman, P; Vyhnálek, M1
Conforti, FL; Gabriele, AL; Gambardella, A; Magariello, A; Mazzei, R; Muglia, M; Patitucci, A; Quattrone, A; Rodolico, C; Toscano, A1

Other Studies

7 other study(ies) available for glutamine and Charcot-Marie-Tooth Disease

ArticleYear
MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A.
    Science (New York, N.Y.), 2018, 04-20, Volume: 360, Issue:6386

    Topics: Amino Acid Substitution; Animals; Arginine; Axons; Charcot-Marie-Tooth Disease; Disease Models, Animal; Drug Design; Glutamine; GTP Phosphohydrolases; Humans; Methionine; Mice; Mice, Inbred C57BL; Mitochondria; Mitochondrial Diseases; Mitochondrial Proteins; Oligopeptides; Phosphorylation; Protein Kinases; Sciatic Nerve; Small Molecule Libraries; Threonine

2018
NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.
    Journal of neurology, 2015, Volume: 262, Issue:5

    Topics: Action Potentials; Adult; Charcot-Marie-Tooth Disease; Creatine Kinase; DNA Mutational Analysis; Electrophysiology; Evoked Potentials; Family Health; Female; Follow-Up Studies; Glutamine; Humans; Lysine; Magnetic Resonance Imaging; Male; Middle Aged; Mutation; Neural Conduction; Neurofilament Proteins; Tomography, X-Ray Computed

2015
Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A.
    Brain : a journal of neurology, 2010, Volume: 133, Issue:Pt 5

    Topics: Aging; Animals; Arginine; Axons; Charcot-Marie-Tooth Disease; DNA, Complementary; Glutamine; GTP Phosphohydrolases; Humans; Membrane Transport Proteins; Mice; Mice, Transgenic; Microscopy, Electron; Mitochondria; Mitochondrial Membrane Transport Proteins; Mitochondrial Proteins; Mutation; Nerve Fibers, Myelinated; Neurons; Peripheral Nerves; Phenotype; Sciatic Nerve

2010
Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.
    Neuromuscular disorders : NMD, 2003, Volume: 13, Issue:4

    Topics: Adult; Arginine; Charcot-Marie-Tooth Disease; Disease Progression; DNA Mutational Analysis; Electrophysiology; Family; Female; Genes, Recessive; Glutamine; Humans; Male; Mutation; Nerve Tissue Proteins; Pedigree; Phenotype; Serine

2003
A novel kinesin-like protein, KIF1Bbeta3 is involved in the movement of lysosomes to the cell periphery in non-neuronal cells.
    Traffic (Copenhagen, Denmark), 2004, Volume: 5, Issue:3

    Topics: Animals; Antigens, CD; Base Sequence; Cell Nucleus; Charcot-Marie-Tooth Disease; Chlorocebus aethiops; Cloning, Molecular; COS Cells; Cytoplasm; Endosomes; Glutamine; Humans; Kidney; Kinesins; Lysosomal Membrane Proteins; Lysosomes; Molecular Motor Proteins; Molecular Sequence Data; Mutation; Nerve Tissue Proteins; Protein Isoforms; Protein Structure, Tertiary; Protein Transport; Rats; Sequence Alignment; Subcellular Fractions

2004
Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.
    Neuromuscular disorders : NMD, 2005, Volume: 15, Issue:11

    Topics: Adolescent; Arginine; Charcot-Marie-Tooth Disease; DNA Mutational Analysis; DNA-Binding Proteins; Female; Glutamine; Humans; Male; Mutation; Neural Conduction; Neurologic Examination; Peripheral Nerves; Radiography; Scoliosis; Trans-Activators; Transcriptional Regulator ERG

2005
Identification of a new polymorphism (c134G>A) in the exon 2 of the myelin protein zero gene.
    Human mutation, 2000, Volume: 15, Issue:3

    Topics: Amino Acid Substitution; Arginine; Charcot-Marie-Tooth Disease; Glutamine; Humans; Male; Middle Aged; Molecular Sequence Data; Myelin P0 Protein; Polymerase Chain Reaction; Polymorphism, Genetic; Polymorphism, Single-Stranded Conformational

2000