Page last updated: 2024-08-17

histidine and Charcot-Marie-Tooth Disease

histidine has been researched along with Charcot-Marie-Tooth Disease in 13 studies

Research

Studies (13)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's3 (23.08)18.2507
2000's3 (23.08)29.6817
2010's3 (23.08)24.3611
2020's4 (30.77)2.80

Authors

AuthorsStudies
Lin, P; Lv, X; Wang, G; Xu, L; Yan, C; Zhang, D1
Attarian, S; Behin, A; Beze-Beyrie, P; Bonello-Palot, N; Boyer, A; Campana-Salort, E; Delague, V; Esselin, F; Latour, P; Levy, N; Lia, AS; Magdelaine, C; Morel, V; Querin, G; Stojkovic, T; Walther-Louvier, U1
Beharry, A; Duennwald, M; Heinemann, IU; Hsu, SY; Kenana, R; Qiu, Y; Siu, VM; Wilhelm, SDP1
Heinemann, IU; Kenana, R; O'Donoghue, P; Qiu, Y; Wilhelm, SDP1
Calderon, JLC; King, LE; King, SJ; Ledray, AP; Love, R; Nandini, S; Pasos, J; Sabblah, TT1
Bereznai, B; Gál, A; Inczédy-Farkas, G; Karcagi, V; Mechler, F; Molnár, MJ; Pál, Z; Reményi, V1
Antonellis, A; Biesecker, L; Giblin, W; Hou, YM; Kennerson, M; Lee, YC; Lupski, JR; McLaughlin, HM; Nicholson, G; Sakaguchi, R; Talbot, K; Vance, JM; Wilson, TE; Züchner, S1
Ammar, N; Amouri, R; Barisić, N; Ceuterick, C; De Jonghe, P; Hentati, F; Martin, JJ; Merlini, L; Nelis, E; Timmerman, V1
Battaloglu, E; Ciftci, F; Deymeer, F; Eraksoy, M; Halefoglu, AM; Oge, AE; Parman, Y; Poyraz, M; Saruhan-Direskeneli, G1
Brannagan, TH; Chin, RL; Sander, HW; Seltzer, WK; Souayah, N1
Hashimoto, T; Hayasaka, K; Ikegami, T; Kashiwada, E; Murai, Y; Ohashi, H; Ohnishi, A; Sudo, K; Yamamori, S; Yamamoto, T1
MacMillan, J; Sorour, E; Upadhyaya, M1
Fukushima, Y; Ikeda, M; Ohnishi, A; Sudo, K; Yamamori, S; Yamamoto, T1

Reviews

3 review(s) available for histidine and Charcot-Marie-Tooth Disease

ArticleYear
A novel mutation in HINT1 gene causes autosomal recessive axonal neuropathy with neuromyotonia, effective treatment with carbamazepine and review of the literature.
    Acta neurologica Belgica, 2022, Volume: 122, Issue:5

    Topics: Adolescent; Carbamazepine; Charcot-Marie-Tooth Disease; Histidine; Humans; Isaacs Syndrome; Muscle Cramp; Mutation; Nerve Tissue Proteins; Nucleotides; Peripheral Nervous System Diseases

2022
HINT1 neuropathy: Expanding the genotype and phenotype spectrum.
    Clinical genetics, 2022, Volume: 102, Issue:5

    Topics: Charcot-Marie-Tooth Disease; Genotype; Histidine; Humans; Isaacs Syndrome; Mutation; Nerve Tissue Proteins; Nucleotides; Peripheral Nervous System Diseases; Phenotype

2022
Towards a Cure for HARS Disease.
    Genes, 2023, 01-18, Volume: 14, Issue:2

    Topics: Aminoacylation; Charcot-Marie-Tooth Disease; Histidine; Histidine-tRNA Ligase; Humans; Mutation

2023

Other Studies

10 other study(ies) available for histidine and Charcot-Marie-Tooth Disease

ArticleYear
Histidine supplementation can escalate or rescue HARS deficiency in a Charcot-Marie-Tooth disease model.
    Human molecular genetics, 2023, 02-19, Volume: 32, Issue:5

    Topics: Amino Acyl-tRNA Synthetases; Charcot-Marie-Tooth Disease; Dietary Supplements; Histidine; Humans; Mutation; RNA, Transfer; Saccharomyces cerevisiae

2023
A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease.
    Scientific reports, 2018, 01-29, Volume: 8, Issue:1

    Topics: Amino Acid Substitution; Animals; Animals, Genetically Modified; Arginine; Charcot-Marie-Tooth Disease; Cytoplasmic Dyneins; Disease Models, Animal; Gene Knock-In Techniques; Histidine; Humans; Longitudinal Studies; Male; Mice; Mutant Proteins; Mutation, Missense

2018
The modifying effect a PMP22 deletion in a family with Charcot-Marie-Tooth type 1 neuropathy due to an EGR2 mutation.
    Ideggyogyaszati szemle, 2014, Nov-30, Volume: 67, Issue:11-12

    Topics: Adult; Age of Onset; Amino Acid Substitution; Arginine; Charcot-Marie-Tooth Disease; Early Growth Response Protein 2; Gene Deletion; Histidine; Humans; Male; Median Nerve; Middle Aged; Myelin Proteins; Neural Conduction; Peroneal Nerve; Sural Nerve; Ulnar Nerve

2014
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
    Human mutation, 2012, Volume: 33, Issue:1

    Topics: Alanine-tRNA Ligase; Aminoacylation; Arginine; Australia; Axons; Case-Control Studies; Charcot-Marie-Tooth Disease; CpG Islands; Female; France; Genes, Dominant; Genetic Linkage; Haplotypes; Histidine; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Transfer RNA Aminoacylation; Yeasts

2012
Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.
    Neuromuscular disorders : NMD, 2003, Volume: 13, Issue:9

    Topics: Alleles; Arginine; Charcot-Marie-Tooth Disease; Cysteine; Demyelinating Diseases; DNA Mutational Analysis; Electrophysiology; Family Health; Female; Genetic Predisposition to Disease; Glycine; Histidine; Humans; Male; Microscopy, Electron; Mutation; Nerve Tissue Proteins; Neural Conduction; Pedigree; Peripheral Nerves; Sequence Analysis, DNA; Tryptophan

2003
X-linked Charcot-Marie-Tooth disease and multiple sclerosis.
    Journal of neurology, 2007, Volume: 254, Issue:7

    Topics: Adult; Central Nervous System; Charcot-Marie-Tooth Disease; Chromosomes, Human, X; Connexins; Gap Junction beta-1 Protein; Histidine; Humans; Magnetic Resonance Imaging; Male; Multiple Sclerosis; Mutation; Tyrosine

2007
Rare myelin protein zero sequence variant in late onset CMT1B.
    Journal of the neurological sciences, 2007, Dec-15, Volume: 263, Issue:1-2

    Topics: Aged; Charcot-Marie-Tooth Disease; Family Health; Female; Histidine; Humans; Middle Aged; Mutation; Myelin P0 Protein; Neural Conduction; Proline

2007
[A family of hereditary motor and sensory neuropathy type I with a mutation (Arg98-->His) in myelin Po--report on a second Japanese family].
    Journal of UOEH, 1996, Mar-01, Volume: 18, Issue:1

    Topics: Arginine; Charcot-Marie-Tooth Disease; Family Health; Female; Histidine; Humans; Japan; Male; Middle Aged; Myelin P0 Protein; Pedigree; Point Mutation

1996
Novel mutation of the myelin P0 gene in a CMT1B family.
    Human mutation, 1997, Volume: 9, Issue:1

    Topics: Arginine; Charcot-Marie-Tooth Disease; Female; Genes, Dominant; Histidine; Humans; Male; Mutation; Myelin Proteins; Pedigree

1997
Myelinated fibers in Charcot-Marie-Tooth disease type 1B with Arg98His mutation of Po protein.
    Journal of the neurological sciences, 1999, Dec-15, Volume: 171, Issue:2

    Topics: Adult; Arginine; Charcot-Marie-Tooth Disease; Female; Histidine; Humans; Japan; Male; Middle Aged; Myelin P0 Protein; Nerve Fibers, Myelinated; Neural Conduction; Pedigree; Point Mutation

1999