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228 related items for PubMed ID: 22180461

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
    Taioli F, Cabrini I, Cavallaro T, Acler M, Fabrizi GM.
    Brain; 2011 Feb 01; 134(Pt 2):608-17. PubMed ID: 21252112
    [Abstract] [Full Text] [Related]

  • 3. Regulation of the PMP22 gene through an intronic enhancer.
    Jones EA, Lopez-Anido C, Srinivasan R, Krueger C, Chang LW, Nagarajan R, Svaren J.
    J Neurosci; 2011 Mar 16; 31(11):4242-50. PubMed ID: 21411665
    [Abstract] [Full Text] [Related]

  • 4. Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development.
    Lopez-Anido C, Poitelon Y, Gopinath C, Moran JJ, Ma KH, Law WD, Antonellis A, Feltri ML, Svaren J.
    Hum Mol Genet; 2016 Jul 15; 25(14):3055-3069. PubMed ID: 27288457
    [Abstract] [Full Text] [Related]

  • 5. Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer.
    Pantera H, Moran JJ, Hung HA, Pak E, Dutra A, Svaren J.
    Hum Mol Genet; 2018 Aug 15; 27(16):2830-2839. PubMed ID: 29771329
    [Abstract] [Full Text] [Related]

  • 6. Identification of the regulatory region of the peripheral myelin protein 22 (PMP22) gene that directs temporal and spatial expression in development and regeneration of peripheral nerves.
    Maier M, Berger P, Nave KA, Suter U.
    Mol Cell Neurosci; 2002 May 15; 20(1):93-109. PubMed ID: 12056842
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Charcot-Marie-Tooth disease and related inherited neuropathies.
    Murakami T, Garcia CA, Reiter LT, Lupski JR.
    Medicine (Baltimore); 1996 Sep 27; 75(5):233-50. PubMed ID: 8862346
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  • 10. Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
    Bort S, Nelis E, Timmerman V, Sevilla T, Cruz-Martínez A, Martínez F, Millán JM, Arpa J, Vílchez JJ, Prieto F, Van Broeckhoven C, Palau F.
    Hum Genet; 1997 Jun 27; 99(6):746-54. PubMed ID: 9187667
    [Abstract] [Full Text] [Related]

  • 11. Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies.
    Gabriel JM, Erne B, Pareyson D, Sghirlanzoni A, Taroni F, Steck AJ.
    Neurology; 1997 Dec 27; 49(6):1635-40. PubMed ID: 9409359
    [Abstract] [Full Text] [Related]

  • 12. The 5' regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease.
    Sinkiewicz-Darol E, Kabzińska D, Moszyńska I, Kochański A.
    Acta Biochim Pol; 2010 Dec 27; 57(3):373-7. PubMed ID: 20842290
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  • 14. Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
    Resko P, Radvansky J, Odnogova Z, Baldovic M, Minarik G, Polakova H, Palffy R, Kadasi L.
    Gen Physiol Biophys; 2011 Dec 27; 30(4):379-88. PubMed ID: 22131320
    [Abstract] [Full Text] [Related]

  • 15. Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies.
    Aarskog NK, Vedeler CA.
    Hum Genet; 2000 Nov 27; 107(5):494-8. PubMed ID: 11140948
    [Abstract] [Full Text] [Related]

  • 16. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ.
    Acta Neurol Scand Suppl; 2012 Nov 27; (193):iv-22. PubMed ID: 23106488
    [Abstract] [Full Text] [Related]

  • 17. 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 27; 55(3):290-9. PubMed ID: 8786387
    [Abstract] [Full Text] [Related]

  • 18. Many facets of the peripheral myelin protein PMP22 in myelination and disease.
    Naef R, Suter U.
    Microsc Res Tech; 1998 Jun 01; 41(5):359-71. PubMed ID: 9672419
    [Abstract] [Full Text] [Related]

  • 19. The modifying effect a PMP22 deletion in a family with Charcot-Marie-Tooth type 1 neuropathy due to an EGR2 mutation.
    Reményi V, Inczédy-Farkas G, Gál A, Bereznai B, Pál Z, Karcagi V, Mechler F, Molnár MJ.
    Ideggyogy Sz; 2014 Nov 30; 67(11-12):420-5. PubMed ID: 25720245
    [Abstract] [Full Text] [Related]

  • 20. Distinct elements of the peripheral myelin protein 22 (PMP22) promoter regulate expression in Schwann cells and sensory neurons.
    Maier M, Castagner F, Berger P, Suter U.
    Mol Cell Neurosci; 2003 Nov 30; 24(3):803-17. PubMed ID: 14664827
    [Abstract] [Full Text] [Related]

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