Compounds > threonine

threonine and Atrophy, Muscular, Peroneal

threonine has been researched along with Atrophy, Muscular, Peroneal in 18 studies

Research

Studies (18)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's3 (16.67)18.2507
2000's11 (61.11)29.6817
2010's4 (22.22)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
Amr, SS; Hedley-Whyte, ET; Kamakura, T; Nadol, JB; O Apos Malley, JT1
Choi, BO; Chung, KW; Kim, YJ; Koo, H; Nakhro, K; Park, JM; Yoo, JH; Yoon, BR1
Blake, J; Bremner, F; Laurá, M; Murphy, SM; Polke, J; Reilly, MM1
Adachi, A; Adachi, Y; Kurihara, S; Nakashima, K; Ohama, E; Wada, K1
Arne-Bes, MC; de Seze, J; Dubourg, O; Hache, JC; Stojkovic, T; Tardieu, S; Vermersch, P1
Drac, H; Hausmanowa-Petrusewicz, I; Kabzińska, D; Kochanski, A1
Huh, K; Joo, IS; Joo, SY; Ki, CS; Kim, JW1
Ginsberg, L; Houlden, H; King, RH; Muddle, JR; Orrell, RW; Reilly, MM; Warner, TT1
Abbott, RJ; Rajabally, YA1
Drac, H; Hausmanowa-Petrusewicz, I; Kabzińska, D; Kochański, A; Palau, F; Pedrola, L; Rowińska-Marcińska, K; Ryniewicz, B1
Beauvais, K; Furby, A; Latour, P1
Clark, A; Fischer, RA; Kamholz, J; Kolodny, E; Krajewski, KM; Li, J; Lupski, JR; Saifi, GM; Scavina, MT; Scherer, SS; Shy, ME; Szigeti, K1
Gotow, T; Hisanaga, S; Julien, JP; Saito, T; Sakaue, F; Sasaki, T; Shiozaki, M; Uchiyama, Y1
Drac, H; Drechsler, H; Hausmanowa-Petrusewicz, I; Kabzińska, D; Kochański, A; Korwin-Piotrowska, T1
Adolfsson, R; Holmberg, B; Holmgren, G; Nelis, E; van Broeckhoven, C1
Ekici, A; Leonardis, L; Peterlin, B; Rautenstrauss, B; Zidar, J1
Ceuterick, C; De Jonghe, P; De Vriendt, E; Löfgren, A; Martin, JJ; Nelis, E; Timmerman, V; Van Broeckhoven, C; Van Maldergem, L; Vercruyssen, A; Verellen, C1

Other Studies

18 other study(ies) available for threonine and Atrophy, Muscular, Peroneal

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
Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.
    Audiology & neuro-otology, 2018, Volume: 23, Issue:6

    Topics: Aged; Alanine; Charcot-Marie-Tooth Disease; Chromosome Aberrations; Cochlear Nerve; Ear, Inner; Exome Sequencing; Facial Nerve; Genes, Dominant; Genetic Variation; Humans; Male; Mutation, Missense; Myelin P0 Protein; Myelin Sheath; Threonine; Vestibular Nerve

2018
A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L.
    Neuromuscular disorders : NMD, 2013, Volume: 23, Issue:8

    Topics: Adult; Charcot-Marie-Tooth Disease; DNA Mutational Analysis; Heat-Shock Proteins; Humans; Lysine; Magnetic Resonance Imaging; Male; Median Nerve; Muscle, Skeletal; Mutation; Neural Conduction; Republic of Korea; Sural Nerve; Threonine

2013
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
Axonal and demyelinating forms of the MPZ Thr124Met mutation.
    Acta neurologica Scandinavica, 2003, Volume: 108, Issue:3

    Topics: Adult; Aged; Aged, 80 and over; Autopsy; Axons; Charcot-Marie-Tooth Disease; Consanguinity; Demyelinating Diseases; DNA Mutational Analysis; Female; Humans; Japan; Male; Methionine; Middle Aged; Mutation; Myelin P0 Protein; Pedigree; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Threonine

2003
Autonomic and respiratory dysfunction in Charcot-Marie-Tooth disease due to Thr124Met mutation in the myelin protein zero gene.
    Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 2003, Volume: 114, Issue:9

    Topics: Adult; Aged; Autonomic Nervous System Diseases; Charcot-Marie-Tooth Disease; DNA Mutational Analysis; Evoked Potentials; Family Health; Female; France; Genetic Linkage; Humans; Male; Methionine; Middle Aged; Muscles; Myelin P0 Protein; Neural Conduction; Point Mutation; Polymerase Chain Reaction; Pupil; Respiration Disorders; Respiratory Tract Diseases; Threonine; Urinary Bladder

2003
A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.
    Neuromuscular disorders : NMD, 2004, Volume: 14, Issue:3

    Topics: Adult; Alanine; Charcot-Marie-Tooth Disease; DNA Mutational Analysis; Female; Hand Deformities; Humans; Microscopy, Electron; Muscular Atrophy; Mutation; Myelin P0 Protein; Myelin Sheath; Protein Folding; Threonine

2004
A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.
    Neuromuscular disorders : NMD, 2004, Volume: 14, Issue:5

    Topics: Adult; Arginine; Charcot-Marie-Tooth Disease; DNA Mutational Analysis; Exons; Family Health; Female; Hearing Loss, Sensorineural; Humans; Male; Myelin Proteins; Pedigree; Phenotype; Point Mutation; Threonine

2004
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 the Thr124Met mutation in the myelin protein zero gene associated with multiple sclerosis.
    Journal of the peripheral nervous system : JPNS, 2005, Volume: 10, Issue:4

    Topics: Charcot-Marie-Tooth Disease; Female; Humans; Methionine; Middle Aged; Multiple Sclerosis; Mutation; Myelin P0 Protein; Threonine

2005
A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease.
    Journal of the neurological sciences, 2006, Feb-15, Volume: 241, Issue:1-2

    Topics: Adult; Animals; Charcot-Marie-Tooth Disease; Child; Child, Preschool; Chlorocebus aethiops; COS Cells; DNA Mutational Analysis; Family Health; Gene Expression; Green Fluorescent Proteins; Humans; Indoles; Male; Methionine; Microscopy, Electron, Transmission; Mutation; Nerve Tissue Proteins; Pedigree; Poland; Sural Nerve; Threonine; Transfection

2006
Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.
    Neuromuscular disorders : NMD, 2006, Volume: 16, Issue:1

    Topics: Adolescent; Adult; Aged; Charcot-Marie-Tooth Disease; Child; Connexins; DNA Mutational Analysis; Electromyography; Family Health; Female; Gap Junction beta-1 Protein; Humans; Male; Methionine; Mutation; Neural Conduction; Nuclear Proteins; Peripheral Nerves; Polymorphism, Genetic; Promoter Regions, Genetic; Threonine; Transcription Factors

2006
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
    Annals of neurology, 2006, Volume: 59, Issue:2

    Topics: Adult; Charcot-Marie-Tooth Disease; Child; Female; Genotype; Humans; Male; Methionine; Middle Aged; Mutation; Myelin Proteins; Neural Conduction; Peripheral Nerves; Phenotype; Threonine

2006
Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants.
    Human molecular genetics, 2006, Mar-15, Volume: 15, Issue:6

    Topics: Amino Acid Substitution; Animals; Cell Line; Charcot-Marie-Tooth Disease; Cyclic AMP-Dependent Protein Kinases; Humans; Mutagenesis, Site-Directed; Neurofilament Proteins; Phosphorylation; Proline; Protein Structure, Tertiary; Rats; Threonine

2006
Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.
    American journal of medical genetics. Part A, 2007, Sep-15, Volume: 143A, Issue:18

    Topics: Age of Onset; Charcot-Marie-Tooth Disease; Female; Hearing Disorders; Humans; Male; Middle Aged; Mutation; Pedigree; Proline; Threonine

2007
PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?
    Nature genetics, 1997, Volume: 15, Issue:1

    Topics: 3T3 Cells; Animals; Charcot-Marie-Tooth Disease; Female; Humans; Male; Methionine; Mice; Myelin Proteins; Pedigree; Point Mutation; Polymerase Chain Reaction; Polymorphism, Genetic; Polymorphism, Single-Stranded Conformational; Sweden; Threonine

1997
Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation.
    International journal of molecular medicine, 1998, Volume: 1, Issue:2

    Topics: Charcot-Marie-Tooth Disease; Female; Genes, Dominant; Genes, Recessive; Hereditary Sensory and Motor Neuropathy; Humans; Male; Methionine; Myelin Proteins; Pedigree; Point Mutation; Recombination, Genetic; Slovenia; Threonine

1998
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.
    Brain : a journal of neurology, 1999, Volume: 122 ( Pt 2)

    Topics: Aged; Biopsy; Charcot-Marie-Tooth Disease; DNA Mutational Analysis; Electromyography; Family Health; Female; Haplotypes; Humans; Male; Median Nerve; Methionine; Motor Neurons; Myelin P0 Protein; Neurons, Afferent; Pedigree; Phenotype; Point Mutation; Polymorphism, Single-Stranded Conformational; Sural Nerve; Threonine; Ulnar Nerve

1999