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Journal Abstract Search

310 related items for PubMed ID: 22771394

  • 1. How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
    Kleopa KA, Abrams CK, Scherer SS.
    Brain Res; 2012 Dec 03; 1487():198-205. PubMed ID: 22771394
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  • 2. X-linked Charcot-Marie-Tooth disease.
    Scherer SS, Kleopa KA.
    J Peripher Nerv Syst; 2012 Dec 03; 17 Suppl 3(0 3):9-13. PubMed ID: 23279425
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  • 3. Molecular genetics of X-linked Charcot-Marie-Tooth disease.
    Kleopa KA, Scherer SS.
    Neuromolecular Med; 2006 Dec 03; 8(1-2):107-22. PubMed ID: 16775370
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  • 4. Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice.
    Scherer SS, Xu YT, Messing A, Willecke K, Fischbeck KH, Jeng LJ.
    J Neurosci; 2005 Feb 09; 25(6):1550-9. PubMed ID: 15703409
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  • 5. 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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  • 6. 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. Two new mouse models of Gjb1-associated Charcot-Marie-Tooth disease type 1X.
    Tadenev ALD, Hatton CL, Pattavina B, Mullins T, Schneider R, Bogdanik LP, Burgess RW.
    J Peripher Nerv Syst; 2023 Sep 02; 28(3):317-328. PubMed ID: 37551045
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  • 10. Gene expression profiling studies in regenerating nerves in a mouse model for CMT1X: uninjured Cx32-knockout peripheral nerves display expression profile of injured wild type nerves.
    Freidin M, Asche-Godin S, Abrams CK.
    Exp Neurol; 2015 Jan 02; 263():339-49. PubMed ID: 25447941
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  • 11. Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.
    Kyriakoudi S, Sargiannidou I, Kagiava A, Olympiou M, Kleopa KA.
    Hum Mol Genet; 2017 May 01; 26(9):1622-1633. PubMed ID: 28334782
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  • 12. Gap junction disorders of myelinating cells.
    Kleopa KA, Orthmann-Murphy J, Sargiannidou I.
    Rev Neurosci; 2010 May 01; 21(5):397-419. PubMed ID: 21280457
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  • 15. AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy.
    Kagiava A, Karaiskos C, Richter J, Tryfonos C, Jennings MJ, Heslegrave AJ, Sargiannidou I, Stavrou M, Zetterberg H, Reilly MM, Christodoulou C, Horvath R, Kleopa KA.
    Gene Ther; 2021 Nov 01; 28(10-11):659-675. PubMed ID: 33692503
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  • 18. Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.
    Huang Y, Sirkowski EE, Stickney JT, Scherer SS.
    J Neurosci; 2005 Aug 03; 25(31):7111-20. PubMed ID: 16079393
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  • 19. Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects.
    Sargiannidou I, Vavlitou N, Aristodemou S, Hadjisavvas A, Kyriacou K, Scherer SS, Kleopa KA.
    J Neurosci; 2009 Apr 15; 29(15):4736-49. PubMed ID: 19369543
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  • 20. Connexin32-null mice develop demyelinating peripheral neuropathy.
    Scherer SS, Xu YT, Nelles E, Fischbeck K, Willecke K, Bone LJ.
    Glia; 1998 Sep 15; 24(1):8-20. PubMed ID: 9700485
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