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Journal Abstract Search

273 related items for PubMed ID: 29771329

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  • 2. Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves.
    Pantera H, Hu B, Moiseev D, Dunham C, Rashid J, Moran JJ, Krentz K, Rubinstein CD, Won S, Li J, Svaren J.
    Hum Mol Genet; 2020 Jun 27; 29(10):1689-1699. PubMed ID: 32356557
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  • 4. Targeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice.
    Lee JS, Lee JY, Song DW, Bae HS, Doo HM, Yu HS, Lee KJ, Kim HK, Hwang H, Kwak G, Kim D, Kim S, Hong YB, Lee JM, Choi BO.
    Nucleic Acids Res; 2020 Jan 10; 48(1):130-140. PubMed ID: 31713617
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  • 10. Schwann cell transcript biomarkers for hereditary neuropathy skin biopsies.
    Svaren J, Moran JJ, Wu X, Zuccarino R, Bacon C, Bai Y, Ramesh R, Gutmann L, Anderson DM, Pavelec D, Shy ME.
    Ann Neurol; 2019 Jun 10; 85(6):887-898. PubMed ID: 30945774
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  • 11. Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs.
    Hanemann CO, Gabreëls-Festen AA, Stoll G, Müller HW.
    Acta Neuropathol; 1997 Oct 10; 94(4):310-5. PubMed ID: 9341930
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  • 12. Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22.
    Jones EA, Brewer MH, Srinivasan R, Krueger C, Sun G, Charney KN, Keles S, Antonellis A, Svaren J.
    Hum Mol Genet; 2012 Apr 01; 21(7):1581-91. PubMed ID: 22180461
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  • 16. Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.
    Kim SM, Lee J, Yoon BR, Kim YJ, Choi BO, Chung KW.
    J Hum Genet; 2015 Feb 01; 60(2):103-6. PubMed ID: 25500726
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  • 18. Impairment of PMP22 transgenic Schwann cells differentiation in culture: implications for Charcot-Marie-Tooth type 1A disease.
    Nobbio L, Vigo T, Abbruzzese M, Levi G, Brancolini C, Mantero S, Grandis M, Benedetti L, Mancardi G, Schenone A.
    Neurobiol Dis; 2004 Jun 01; 16(1):263-73. PubMed ID: 15207283
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  • 19. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ.
    Acta Neurol Scand Suppl; 2012 Jun 01; (193):iv-22. PubMed ID: 23106488
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  • 20. PMP22 overexpression causes dysmyelination in mice.
    Robaglia-Schlupp A, Pizant J, Norreel JC, Passage E, Sabéran-Djoneidi D, Ansaldi JL, Vinay L, Figarella-Branger D, Lévy N, Clarac F, Cau P, Pellissier JF, Fontés M.
    Brain; 2002 Oct 01; 125(Pt 10):2213-21. PubMed ID: 12244079
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