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Journal Abstract Search

132 related items for PubMed ID: 8821490

  • 1. [Phenotypic heterogeneity in Japanese Charcot-Marie-Tooth disease type 1A patients with PMP-22 gene duplication].
    Yamamoto M, Sobue G, Yasuda T, Yamamoto K, Kumazawa K, Mitsuma T.
    Rinsho Shinkeigaku; 1995 Oct; 35(10):1085-91. PubMed ID: 8821490
    [Abstract] [Full Text] [Related]

  • 2. [Abnormality of PMP-22 gene in Japanese patients with Charcot-Marie-Tooth disease--comparison between Southern blot and polymerase chain reaction analysis in the detection of PMP-22 gene duplication].
    Yamamoto M, Sobue G, Kumazawa K, Doyu M, Mitsuma T, Hayasaka K.
    No To Shinkei; 1995 Jul; 47(7):687-91. PubMed ID: 7612387
    [Abstract] [Full Text] [Related]

  • 3. Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.
    Roa BB, Greenberg F, Gunaratne P, Sauer CM, Lubinsky MS, Kozma C, Meck JM, Magenis RE, Shaffer LG, Lupski JR.
    Hum Genet; 1996 May; 97(5):642-9. PubMed ID: 8655146
    [Abstract] [Full Text] [Related]

  • 4. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.
    Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, van den Bosch NH, Zorn I, Gabreëls-Festen AW, de Visser M, Bolhuis PA.
    Nat Genet; 1992 Dec; 2(4):288-91. PubMed ID: 1303281
    [Abstract] [Full Text] [Related]

  • 5. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.
    Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO.
    Nat Genet; 1992 Jun; 1(3):171-5. PubMed ID: 1303230
    [Abstract] [Full Text] [Related]

  • 6. [A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation].
    Ohnishi A, Yoshimura T, Kanehisa Y, Fukushima Y.
    Rinsho Shinkeigaku; 1995 Jul; 35(7):788-92. PubMed ID: 8777804
    [Abstract] [Full Text] [Related]

  • 7. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.
    Valentijn LJ, Bolhuis PA, Zorn I, Hoogendijk JE, van den Bosch N, Hensels GW, Stanton VP, Housman DE, Fischbeck KH, Ross DA.
    Nat Genet; 1992 Jun; 1(3):166-70. PubMed ID: 1303229
    [Abstract] [Full Text] [Related]

  • 8. Is the duplication present in all family members affected with Charcot-Marie-Tooth neuropathy type 1 A?
    Ionăşescu V, Ionăşescu G, Searby C, Barker DF.
    Rom J Neurol Psychiatry; 1993 Jun; 31(3-4):179-87. PubMed ID: 8011481
    [Abstract] [Full Text] [Related]

  • 9. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
    Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U.
    Nat Genet; 1992 Jun; 1(3):159-65. PubMed ID: 1303228
    [Abstract] [Full Text] [Related]

  • 10. [Molecular pathology of Charcot-Marie-Tooth disease type 1A: abnormal expression of PMP-22].
    Yoshikawa H, Nishimura T, Yanagihara T.
    Rinsho Shinkeigaku; 1995 Dec; 35(12):1441-3. PubMed ID: 8752424
    [Abstract] [Full Text] [Related]

  • 11. Overview of Charcot-Marie-Tooth disease type 1A.
    Thomas PK.
    Ann N Y Acad Sci; 1999 Sep 14; 883():1-5. PubMed ID: 10586223
    [Abstract] [Full Text] [Related]

  • 12. [Roussy-Lévy syndrome with a duplication on peripheral myelin protein gene (PMP22)].
    Wake Y, Kanzaki A, Shirabe T.
    Rinsho Shinkeigaku; 2000 Jul 14; 40(7):750-2. PubMed ID: 11186918
    [Abstract] [Full Text] [Related]

  • 13. Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A.
    Yoshikawa H, Nishimura T, Nakatsuji Y, Fujimura H, Himoro M, Hayasaka K, Sakoda S, Yanagihara T.
    Ann Neurol; 1994 Apr 14; 35(4):445-50. PubMed ID: 7512319
    [Abstract] [Full Text] [Related]

  • 14. Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease.
    LeGuern E, Gouider R, Mabin D, Tardieu S, Birouk N, Parent P, Bouche P, Brice A.
    Ann Neurol; 1997 Jan 14; 41(1):104-8. PubMed ID: 9005872
    [Abstract] [Full Text] [Related]

  • 15. Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study.
    Bird TD, Kraft GH, Lipe HP, Kenney KL, Sumi SM.
    Ann Neurol; 1997 Apr 14; 41(4):463-9. PubMed ID: 9124803
    [Abstract] [Full Text] [Related]

  • 16. Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.
    Seeman P, Mazanec R, Ctvrtecková M, Smilková D.
    Int J Mol Med; 2001 Oct 14; 8(4):461-8. PubMed ID: 11562788
    [Abstract] [Full Text] [Related]

  • 17. A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3).
    Jedrzejowska M, Ryniewicz B, Kabzińska D, Drac H, Hausmanowa-Petrusewicz I, Kochański A.
    Neuromuscul Disord; 2008 Apr 14; 18(4):339-41. PubMed ID: 18337101
    [Abstract] [Full Text] [Related]

  • 18. Neurophysiology and molecular genetics of Charcot-Marie-Tooth type 1 neuropathy in Croatian children: follow-up study.
    Barisić N, Mihatov I.
    Croat Med J; 2000 Sep 14; 41(3):306-13. PubMed ID: 10962051
    [Abstract] [Full Text] [Related]

  • 19. Charcot-Marie-Tooth neuropathy type 1A with both duplication and non-duplication.
    Ionasescu VV, Ionasescu R, Searby C, Barker DF.
    Hum Mol Genet; 1993 Apr 14; 2(4):405-10. PubMed ID: 8099303
    [Abstract] [Full Text] [Related]

  • 20. Nerve conduction abnormalities in the trembler-j mouse: a model for Charcot-Marie-Tooth disease type 1A?
    Meekins GD, Emery MJ, Weiss MD.
    J Peripher Nerv Syst; 2004 Sep 14; 9(3):177-82. PubMed ID: 15363066
    [Abstract] [Full Text] [Related]

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