BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

140 related articles for article (PubMed ID: 32047472)

  • 21. Novel GJB1 mutation causing adult-onset Charcot-Marie-Tooth disease in a female patient.
    Martikainen MH; Majamaa K
    Neuromuscul Disord; 2013 Nov; 23(11):899-901. PubMed ID: 23838279
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Aberrant Splicing in
    Boso F; Taioli F; Cabrini I; Cavallaro T; Fabrizi GM
    Brain Sci; 2020 Dec; 11(1):. PubMed ID: 33375465
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Episodic Neurological Dysfunction in X-Linked Charcot-Marie-Tooth Disease: Expansion of the Phenotypic and Genetic Spectrum.
    Zhan F; Tian W; Cao Y; Wu J; Ni R; Liu T; Yuan Y; Luan X; Cao L
    J Clin Neurol; 2024 Jan; 20(1):59-66. PubMed ID: 38179633
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ
    Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
    [TBL] [Abstract][Full Text] [Related]  

  • 25.
    Niu J; Dai Y; Liu M; Li Y; Ding Q; Guan Y; Cui L; Jin L
    Front Neurol; 2019; 10():1406. PubMed ID: 32010055
    [No Abstract]   [Full Text] [Related]  

  • 26. Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth disease.
    Rosser T; Muir J; Panigrahy A; Baldwin EE; Boles RG
    J Child Neurol; 2010 Aug; 25(8):1013-6. PubMed ID: 20472869
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.
    Hong YB; Park JM; Yu JS; Yoo DH; Nam DE; Park HJ; Lee JS; Hwang SH; Chung KW; Choi BO
    J Peripher Nerv Syst; 2017 Sep; 22(3):172-181. PubMed ID: 28448691
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement.
    Karadima G; Koutsis G; Raftopoulou M; Floroskufi P; Karletidi KM; Panas M
    J Neurol Sci; 2014 Jun; 341(1-2):158-61. PubMed ID: 24768312
    [TBL] [Abstract][Full Text] [Related]  

  • 29. CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction.
    Xie C; Zhou X; Zhu D; Liu W; Wang X; Yang H; Li Z; Hao Y; Zhang GX; Guan Y
    Neurol Sci; 2016 Jul; 37(7):1063-70. PubMed ID: 27098243
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.
    Berciano J; García A; Gallardo E; Peeters K; Pelayo-Negro AL; Álvarez-Paradelo S; Gazulla J; Martínez-Tames M; Infante J; Jordanova A
    J Neurol; 2017 Aug; 264(8):1655-1677. PubMed ID: 28364294
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1.
    Grosz BR; Svaren J; Perez-Siles G; Nicholson GA; Kennerson ML
    Neurogenetics; 2021 Jul; 22(3):149-160. PubMed ID: 34089394
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease.
    Huttner IG; Kennerson ML; Reddel SW; Radovanovic D; Nicholson GA
    Neurology; 2006 Dec; 67(11):2016-21. PubMed ID: 17159110
    [TBL] [Abstract][Full Text] [Related]  

  • 33. X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association.
    Koutsis G; Breza M; Velonakis G; Tzartos J; Kasselimis D; Kartanou C; Karavasilis E; Tzanetakos D; Anagnostouli M; Andreadou E; Evangelopoulos ME; Kilidireas C; Potagas C; Panas M; Karadima G
    J Neurol Neurosurg Psychiatry; 2019 Feb; 90(2):187-194. PubMed ID: 30196252
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Novel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease.
    Chu F; Xu J; Wang Y; Li Y; Wang Y; Liu Z; Li C
    Front Neurosci; 2022; 16():972288. PubMed ID: 36225735
    [TBL] [Abstract][Full Text] [Related]  

  • 35.
    Kovale S; Terauda R; Millere E; Taurina G; Murmane D; Isakova J; Kenina V; Gailite L
    Case Rep Neurol; 2021; 13(2):422-428. PubMed ID: 34326750
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.
    Lu YY; Lyu H; Jin SQ; Zuo YH; Liu J; Wang ZX; Zhang W; Yuan Y
    Chin Med J (Engl); 2017 May; 130(9):1049-1054. PubMed ID: 28469099
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients.
    Sun B; Chen ZH; Ling L; Li YF; Liu LZ; Yang F; Huang XS
    Chin Med J (Engl); 2016 May; 129(9):1011-6. PubMed ID: 27098783
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Clinical and biophysical characterization of 19
    Tsai PC; Yang DM; Liao YC; Chiu TY; Kuo HC; Su YP; Guo YC; Soong BW; Lin KP; Liu YT; Lee YC
    Ann Clin Transl Neurol; 2016 Nov; 3(11):854-865. PubMed ID: 27844031
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Substitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot-Marie-tooth disease: A computational study.
    Agrahari AK; Kumar A; R S; Zayed H; C GPD
    J Theor Biol; 2018 Jan; 437():305-317. PubMed ID: 29111421
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Diffusion tensor imaging and magnetic resonance spectroscopy of transient cerebral white matter lesions in X-linked Charcot-Marie-Tooth disease.
    Sato K; Kubo S; Fujii H; Okamoto M; Takahashi K; Takamatsu K; Tanaka A; Kuriyama M
    J Neurol Sci; 2012 May; 316(1-2):178-80. PubMed ID: 22341131
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.