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Journal Abstract Search

262 related items for PubMed ID: 25370202

  • 1. GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems.
    Abrams CK, Freidin M.
    Cell Tissue Res; 2015 Jun; 360(3):659-73. PubMed ID: 25370202
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  • 2. Connexins, gap junctions and peripheral neuropathy.
    Kleopa KA, Sargiannidou I.
    Neurosci Lett; 2015 Jun 02; 596():27-32. PubMed ID: 25449862
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  • 9. Intrathecal gene therapy in mouse models expressing CMT1X mutations.
    Kagiava A, Karaiskos C, Richter J, Tryfonos C, Lapathitis G, Sargiannidou I, Christodoulou C, Kleopa KA.
    Hum Mol Genet; 2018 Apr 15; 27(8):1460-1473. PubMed ID: 29462293
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  • 10. Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease.
    Olympiou M, Sargiannidou I, Markoullis K, Karaiskos C, Kagiava A, Kyriakoudi S, Abrams CK, Kleopa KA.
    Acta Neuropathol Commun; 2016 Sep 01; 4(1):95. PubMed ID: 27585976
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  • 11. Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.
    Bähr M, Andres F, Timmerman V, Nelis ME, Van Broeckhoven C, Dichgans J.
    J Neurol Neurosurg Psychiatry; 1999 Feb 01; 66(2):202-6. PubMed ID: 10071100
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  • 12. CMT1X phenotypes represent loss of GJB1 gene function.
    Shy ME, Siskind C, Swan ER, Krajewski KM, Doherty T, Fuerst DR, Ainsworth PJ, Lewis RA, Scherer SS, Hahn AF.
    Neurology; 2007 Mar 13; 68(11):849-55. PubMed ID: 17353473
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  • 14. A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32.
    Sargiannidou I, Kim GH, Kyriakoudi S, Eun BL, Kleopa KA.
    Neurogenetics; 2015 Jul 13; 16(3):193-200. PubMed ID: 25771809
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  • 15. 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 05; 130(9):1049-1054. PubMed ID: 28469099
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  • 17. GJB1 mutations c.212T>G and c.311A>C induce apoptosis and inwardly rectifying potassium current changes in X-linked Charcot-Marie-Tooth type 1.
    Guo H, Liu Y, Gu J, Luo J, Ma Y, Xiao F.
    Biochem Biophys Res Commun; 2021 Dec 10; 582():8-15. PubMed ID: 34678594
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  • 18. Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
    Kleopa KA, Zamba-Papanicolaou E, Alevra X, Nicolaou P, Georgiou DM, Hadjisavvas A, Kyriakides T, Christodoulou K.
    Neurology; 2006 Feb 14; 66(3):396-402. PubMed ID: 16476939
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  • 19. [Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease].
    Qiao XH, Li YX, Chang XZ, Luan XH, Chen B, Bu DF, Yuan Y.
    Zhonghua Yi Xue Za Zhi; 2009 Dec 22; 89(47):3328-31. PubMed ID: 20193560
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  • 20. Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.
    Stancanelli C, Taioli F, Testi S, Fabrizi GM, Arena MG, Granata F, Russo M, Gentile L, Vita G, Mazzeo A.
    J Peripher Nerv Syst; 2012 Dec 22; 17(4):407-11. PubMed ID: 23279342
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