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282 related items for PubMed ID: 29246495

  • 1. Elevated Peripheral Myelin Protein 22, Reduced Mitotic Potential, and Proteasome Impairment in Dermal Fibroblasts from Charcot-Marie-Tooth Disease Type 1A Patients.
    Lee S, Bazick H, Chittoor-Vinod V, Al Salihi MO, Xia G, Notterpek L.
    Am J Pathol; 2018 Mar; 188(3):728-738. PubMed ID: 29246495
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  • 3. Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies.
    Hanemann CO, Stoll G, D'Urso D, Fricke W, Martin JJ, Van Broeckhoven C, Mancardi GL, Bartke I, Müller HW.
    J Neurosci Res; 1994 Apr 01; 37(5):654-9. PubMed ID: 8028042
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  • 10. Low affinity NGF receptor expression in CMT1A nerve biopsies of different disease stages.
    Hanemann CO, Gabreëls-Fasten AA, Müller HW, Stoll G.
    Brain; 1996 Oct 01; 119 ( Pt 5)():1461-9. PubMed ID: 8931571
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  • 12. Direct relationship between increased expression and mistrafficking of the Charcot-Marie-Tooth-associated protein PMP22.
    Marinko JT, Carter BD, Sanders CR.
    J Biol Chem; 2020 Aug 21; 295(34):11963-11970. PubMed ID: 32647009
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  • 14. Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A.
    Haney C, Snipes GJ, Shooter EM, Suter U, Garcia C, Griffin JW, Trapp BD.
    J Neuropathol Exp Neurol; 1996 Mar 21; 55(3):290-9. PubMed ID: 8786387
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  • 15. Modeling the Pathogenesis of Charcot-Marie-Tooth Disease Type 1A Using Patient-Specific iPSCs.
    Shi L, Huang L, He R, Huang W, Wang H, Lai X, Zou Z, Sun J, Ke Q, Zheng M, Lu X, Pei Z, Su H, Xiang AP, Li W, Yao X.
    Stem Cell Reports; 2018 Jan 09; 10(1):120-133. PubMed ID: 29276154
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  • 17. Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathy.
    Chumakov I, Milet A, Cholet N, Primas G, Boucard A, Pereira Y, Graudens E, Mandel J, Laffaire J, Foucquier J, Glibert F, Bertrand V, Nave KA, Sereda MW, Vial E, Guedj M, Hajj R, Nabirotchkin S, Cohen D.
    Orphanet J Rare Dis; 2014 Dec 10; 9():201. PubMed ID: 25491744
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  • 18. Generation of one induced pluripotent stem cell line JUCGRMi004-A from a Charcot-Marie-Tooth disease type 1A (CMT1A) patient with PMP22 duplication.
    Liu X, Ishikawa KI, Hattori N, Akamatsu W.
    Stem Cell Res; 2024 Jun 10; 77():103401. PubMed ID: 38537501
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