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Journal Abstract Search

272 related items for PubMed ID: 30945774

  • 1.
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  • 2. PMP22 expression in dermal nerve myelin from patients with CMT1A.
    Katona I, Wu X, Feely SM, Sottile S, Siskind CE, Miller LJ, Shy ME, Li J.
    Brain; 2009 Jul; 132(Pt 7):1734-40. PubMed ID: 19447823
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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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  • 5. Pathogenesis of Charcot-Marie-Tooth 1A (CMT1A) neuropathy.
    Hanemann CO, Müller HW.
    Trends Neurosci; 1998 Jul 01; 21(7):282-6. PubMed ID: 9683317
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  • 6. PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker.
    Nobbio L, Visigalli D, Radice D, Fiorina E, Solari A, Lauria G, Reilly MM, Santoro L, Schenone A, Pareyson D, CMT-TRIAAL Group.
    Brain; 2014 Jun 01; 137(Pt 6):1614-20. PubMed ID: 24812204
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  • 8. PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells.
    Prior R, Silva A, Vangansewinkel T, Idkowiak J, Tharkeshwar AK, Hellings TP, Michailidou I, Vreijling J, Loos M, Koopmans B, Vlek N, Agaser C, Kuipers TB, Michiels C, Rossaert E, Verschoren S, Vermeire W, de Laat V, Dehairs J, Eggermont K, van den Biggelaar D, Bademosi AT, Meunier FA, vandeVen M, Van Damme P, Mei H, Swinnen JV, Lambrichts I, Baas F, Fluiter K, Wolfs E, Van Den Bosch L.
    Brain; 2024 Sep 03; 147(9):3113-3130. PubMed ID: 38743588
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  • 9. Charcot-Marie-Tooth disease and related inherited neuropathies.
    Murakami T, Garcia CA, Reiter LT, Lupski JR.
    Medicine (Baltimore); 1996 Sep 03; 75(5):233-50. PubMed ID: 8862346
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  • 11. Improved culture methods to expand Schwann cells with altered growth behaviour from CMT1A patients.
    Hanemann CO, Rosenbaum C, Kupfer S, Wosch S, Stoegbauer F, Müller HW.
    Glia; 1998 Jun 03; 23(2):89-98. PubMed ID: 9600378
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  • 12. 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 03; 188(3):728-738. PubMed ID: 29246495
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  • 13. 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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  • 15. A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice.
    Stavrou M, Kagiava A, Choudury SG, Jennings MJ, Wallace LM, Fowler AM, Heslegrave A, Richter J, Tryfonos C, Christodoulou C, Zetterberg H, Horvath R, Harper SQ, Kleopa KA.
    J Clin Invest; 2022 Jul 01; 132(13):. PubMed ID: 35579942
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