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161 related items for PubMed ID: 35501275

  • 1. Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies.
    Koike H, Furukawa S, Mouri N, Fukami Y, Iijima M, Katsuno M.
    Neuromuscul Disord; 2022 Jun; 32(6):503-511. PubMed ID: 35501275
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. A dual role for Integrin α6β4 in modulating hereditary neuropathy with liability to pressure palsies.
    Poitelon Y, Matafora V, Silvestri N, Zambroni D, McGarry C, Serghany N, Rush T, Vizzuso D, Court FA, Bachi A, Wrabetz L, Feltri ML.
    J Neurochem; 2018 May 27; 145(3):245-257. PubMed ID: 29315582
    [Abstract] [Full Text] [Related]

  • 4. Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
    Taioli F, Cabrini I, Cavallaro T, Acler M, Fabrizi GM.
    Brain; 2011 Feb 27; 134(Pt 2):608-17. PubMed ID: 21252112
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Targeting PI3K/Akt/mTOR signaling in rodent models of PMP22 gene-dosage diseases.
    Krauter D, Stausberg D, Hartmann TJ, Volkmann S, Kungl T, Rasche DA, Saher G, Fledrich R, Stassart RM, Nave KA, Goebbels S, Ewers D, Sereda MW.
    EMBO Mol Med; 2024 Mar 27; 16(3):616-640. PubMed ID: 38383802
    [Abstract] [Full Text] [Related]

  • 7. 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 27; 94(4):310-5. PubMed ID: 9341930
    [Abstract] [Full Text] [Related]

  • 8. 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 27; 132(Pt 7):1734-40. PubMed ID: 19447823
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies.
    Choi JR, Lee WH, Sunwoo IN, Lee EK, Lee CH, Lim JB.
    Yonsei Med J; 2005 Jun 30; 46(3):347-52. PubMed ID: 15988805
    [Abstract] [Full Text] [Related]

  • 11. PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.
    van Paassen BW, van der Kooi AJ, van Spaendonck-Zwarts KY, Verhamme C, Baas F, de Visser M.
    Orphanet J Rare Dis; 2014 Mar 19; 9():38. PubMed ID: 24646194
    [Abstract] [Full Text] [Related]

  • 12. Nonmyelinating Schwann cell involvement with well-preserved unmyelinated axons in Charcot-Marie-Tooth disease type 1A.
    Koike H, Iijima M, Mori K, Yamamoto M, Hattori N, Katsuno M, Tanaka F, Watanabe H, Doyu M, Yoshikawa H, Sobue G.
    J Neuropathol Exp Neurol; 2007 Nov 19; 66(11):1027-36. PubMed ID: 17984684
    [Abstract] [Full Text] [Related]

  • 13. Analysis of PMP22 duplication and deletion using a panel of six dinucleotide tandem repeats.
    Gagic M, Markovic MK, Kecmanovic M, Keckarevic D, Mladenovic J, Dackovic J, Milic-Rasic V, Romac S.
    Clin Chem Lab Med; 2016 May 19; 54(5):773-80. PubMed ID: 26479344
    [Abstract] [Full Text] [Related]

  • 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 19; 30(4):379-88. PubMed ID: 22131320
    [Abstract] [Full Text] [Related]

  • 15. Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease.
    Mathis S, Corcia P, Tazir M, Camu W, Magdelaine C, Latour P, Biberon J, Guennoc AM, Richard L, Magy L, Funalot B, Vallat JM.
    Neuromuscul Disord; 2014 Jun 19; 24(6):524-8. PubMed ID: 24792522
    [Abstract] [Full Text] [Related]

  • 16. Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation.
    Leonardis L, Zidar J, Ekici A, Peterlin B, Rautenstrauss B.
    Int J Mol Med; 1998 Feb 19; 1(2):495-501. PubMed ID: 9852256
    [Abstract] [Full Text] [Related]

  • 17. Clinical implications of peripheral myelin protein 22 for nerve compression and neural regeneration: a review.
    Hui-Chou HG, Hashemi SS, Hoke A, Dellon AL.
    J Reconstr Microsurg; 2011 Jan 19; 27(1):67-74. PubMed ID: 20976668
    [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. Screening for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsy in archival nerve biopsy samples by direct-double-differential PCR.
    Beckmann A, Schröder JM.
    Acta Neuropathol; 2000 Nov 01; 100(5):459-63. PubMed ID: 11045666
    [Abstract] [Full Text] [Related]

  • 20. Rapid detection of duplication/deletion of the PMP22 gene in patients with Charcot-Marie-Tooth disease Type 1A and hereditary neuropathy with liability to pressure palsy by real-time quantitative PCR using SYBR Green I dye.
    Kim SW, Lee KS, Jin HS, Lee TM, Koo SK, Lee YJ, Jung SC.
    J Korean Med Sci; 2003 Oct 01; 18(5):727-32. PubMed ID: 14555828
    [Abstract] [Full Text] [Related]


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