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Journal Abstract Search

413 related items for PubMed ID: 19830275

  • 1. A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies.
    Moszyńska I, Kabzińska D, Sinkiewicz-Darol E, Kochański A.
    Acta Biochim Pol; 2009; 56(4):627-30. PubMed ID: 19830275
    [Abstract] [Full Text] [Related]

  • 2. [Hereditary neuropathy with liability to pressure palsies: study of six Spanish families].
    Pou Serradell A, Monells J, Téllez MJ, Fossas P, Löfgren A, Meuleman J, Timmerman V, De Jonghe P, Ceuterick C, Martin JJ.
    Rev Neurol (Paris); 2002 May; 158(5 Pt 1):579-88. PubMed ID: 12072826
    [Abstract] [Full Text] [Related]

  • 3. A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies.
    Zéphir H, Stojkovic T, Latour P, Hurtevent JF, Blankaert F, Vermersch P.
    Neuromuscul Disord; 2005 Jul; 15(7):493-7. PubMed ID: 15955700
    [Abstract] [Full Text] [Related]

  • 4. A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.
    Muglia M, Patitucci A, Rizzi R, Ungaro C, Conforti FL, Gabriele AL, Magariello A, Mazzei R, Motti L, Sabadini R, Sprovieri T, Marcello N, Quattrone A.
    J Neurol Sci; 2007 Dec 15; 263(1-2):194-7. PubMed ID: 17707409
    [Abstract] [Full Text] [Related]

  • 5. Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.
    Li J, Ghandour K, Radovanovic D, Shy RR, Krajewski KM, Shy ME, Nicholson GA.
    Arch Neurol; 2007 Jul 15; 64(7):974-8. PubMed ID: 17620487
    [Abstract] [Full Text] [Related]

  • 6. 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 15; 30(4):379-88. PubMed ID: 22131320
    [Abstract] [Full Text] [Related]

  • 7. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.
    Roa BB, Garcia CA, Pentao L, Killian JM, Trask BJ, Suter U, Snipes GJ, Ortiz-Lopez R, Shooter EM, Patel PI, Lupski JR.
    Nat Genet; 1993 Oct 15; 5(2):189-94. PubMed ID: 8252046
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  • 9. Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies.
    Sutton IJ, Mocroft AP, Lindley VH, Barber RM, Bryon RJ, Winer JB, MacDonald F.
    Neuromuscul Disord; 2004 Dec 15; 14(12):804-9. PubMed ID: 15564036
    [Abstract] [Full Text] [Related]

  • 10. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.
    Nelis E, Haites N, Van Broeckhoven C.
    Hum Mutat; 1999 Dec 15; 13(1):11-28. PubMed ID: 9888385
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  • 11. Inherited peripheral neuropathy.
    Keller MP, Chance PF.
    Semin Neurol; 1999 Dec 15; 19(4):353-62. PubMed ID: 10716658
    [Abstract] [Full Text] [Related]

  • 12. Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.
    Brožková D, Mazanec R, Rychlý Z, Haberlová J, Böhm J, Staněk J, Plevová P, Lisoňová J, Sabová J, Sakmaryová I, Seeman P.
    Muscle Nerve; 2011 Nov 15; 44(5):819-22. PubMed ID: 22006697
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  • 14. Overview of hereditary neuropathy with liability to pressure palsies.
    Chance PF.
    Ann N Y Acad Sci; 1999 Sep 14; 883():14-21. PubMed ID: 10586225
    [Abstract] [Full Text] [Related]

  • 15. Molecular basis of hereditary neuropathies.
    Chance PF.
    Phys Med Rehabil Clin N Am; 2001 May 14; 12(2):277-91. PubMed ID: 11345007
    [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 14; 1(2):495-501. PubMed ID: 9852256
    [Abstract] [Full Text] [Related]

  • 17. Genetic basis of inherited peripheral neuropathies.
    Suter U, Patel PI.
    Hum Mutat; 1994 Feb 14; 3(2):95-102. PubMed ID: 7515304
    [Abstract] [Full Text] [Related]

  • 18. Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice.
    Adlkofer K, Martini R, Aguzzi A, Zielasek J, Toyka KV, Suter U.
    Nat Genet; 1995 Nov 14; 11(3):274-80. PubMed ID: 7581450
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  • 19. Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene.
    Fusco C, Spagnoli C, Salerno GG, Pavlidis E, Frattini D, Pisani F.
    Ital J Pediatr; 2017 Oct 27; 43(1):97. PubMed ID: 29078790
    [Abstract] [Full Text] [Related]

  • 20. Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
    Mersiyanova IV, Ismailov SM, Polyakov AV, Dadali EL, Fedotov VP, Nelis E, Löfgren A, Timmerman V, van Broeckhoven C, Evgrafov OV.
    Hum Mutat; 2000 Oct 27; 15(4):340-7. PubMed ID: 10737979
    [Abstract] [Full Text] [Related]

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