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Journal Abstract Search

180 related items for PubMed ID: 11257785

  • 1. [X-Linked Charcot-Marie-Tooth disease with a new mutation (Thr191Ala) in the connexin32].
    Kobari M, Irie J, Takizawa K, Yoshihara T, Sobue G.
    Rinsho Shinkeigaku; 2000 Sep; 40(9):896-9. PubMed ID: 11257785
    [Abstract] [Full Text] [Related]

  • 2. 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; 8(4):461-8. PubMed ID: 11562788
    [Abstract] [Full Text] [Related]

  • 3. Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease.
    Hahn AF, Bolton CF, White CM, Brown WF, Tuuha SE, Tan CC, Ainsworth PJ.
    Ann N Y Acad Sci; 1999 Sep 14; 883():366-82. PubMed ID: 10586261
    [Abstract] [Full Text] [Related]

  • 4. Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease.
    Braathen GJ, Sand JC, Bukholm G, Russell MB.
    BMC Neurol; 2007 Jul 09; 7():19. PubMed ID: 17620124
    [Abstract] [Full Text] [Related]

  • 5. [A family of X-linked motor and sensory neuropathy with a new type of connexin32 mutation].
    Ohnishi A, Yoshimura T, Takazawa A, Hashimoto T, Yamamoto T, Fukushima Y.
    Rinsho Shinkeigaku; 1995 Aug 09; 35(8):843-9. PubMed ID: 8665724
    [Abstract] [Full Text] [Related]

  • 6. X-linked Charcot-Marie-Tooth disease and connexin32.
    Ionasescu VV.
    Cell Biol Int; 1998 Nov 09; 22(11-12):807-13. PubMed ID: 10873293
    [Abstract] [Full Text] [Related]

  • 7. [A pedigree of Charcot-Marie-Tooth disease type 4F (Periaxin mutation)].
    Shimohata M, Hirahara K, Igarashi S, Hara K, Kijima K, Onodera O, Tanaka K, Nishizawa M, Tsuji S, Hayasaka K.
    Rinsho Shinkeigaku; 2005 Mar 09; 45(3):221-5. PubMed ID: 15835292
    [Abstract] [Full Text] [Related]

  • 8. X-linked Charcot-Marie-Tooth disease: molecular analysis of interfamilial variability.
    Niewiadomski LA, Kelly TE.
    Am J Med Genet; 1996 Dec 11; 66(2):175-8. PubMed ID: 8958325
    [Abstract] [Full Text] [Related]

  • 9. X-linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene.
    Ma W, Farrukh Nizam M, Grewal RP.
    Neurol Sci; 2002 Oct 11; 23(4):195-7. PubMed ID: 12536289
    [Abstract] [Full Text] [Related]

  • 10. [Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease].
    Qiao XH, Li YX, Chang XZ, Luan XH, Chen B, Bu DF, Yuan Y.
    Zhonghua Yi Xue Za Zhi; 2009 Dec 22; 89(47):3328-31. PubMed ID: 20193560
    [Abstract] [Full Text] [Related]

  • 11. A family with X-linked dominant Charcot-Marie-Tooth caused by a connexin32 mutation.
    Verhelst HE, Lofgren A, Van Coster RN.
    Eur J Paediatr Neurol; 2000 Dec 22; 4(5):235-8. PubMed ID: 11030070
    [Abstract] [Full Text] [Related]

  • 12. Mutation testing in Charcot-Marie-Tooth neuropathy.
    Nicholson GA.
    Ann N Y Acad Sci; 1999 Sep 14; 883():383-8. PubMed ID: 10586262
    [Abstract] [Full Text] [Related]

  • 13. Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.
    Rouger H, LeGuern E, Birouk N, Gouider R, Tardieu S, Plassart E, Gugenheim M, Vallat JM, Louboutin JP, Bouche P, Agid Y, Brice A.
    Hum Mutat; 1997 Sep 14; 10(6):443-52. PubMed ID: 9401007
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  • 15. Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.
    Ionasescu V, Ionasescu R, Searby C.
    Am J Med Genet; 1996 Jun 14; 63(3):486-91. PubMed ID: 8737658
    [Abstract] [Full Text] [Related]

  • 16. X-linked Charcot-Marie-Tooth disease and connexin32.
    Fischbeck KH, Abel A, Lin GS, Scherer SS.
    Ann N Y Acad Sci; 1999 Sep 14; 883():36-41. PubMed ID: 10586227
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  • 18. Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E. Mutation in brief no 236. Online.
    Karadimas C, Panas M, Chronopoulou P, Avramopoulos D, Vassilopoulos D.
    Hum Mutat; 1999 Sep 14; 13(4):339. PubMed ID: 10220155
    [Abstract] [Full Text] [Related]

  • 19. Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
    Tang B, Liu X, Zhao G, Luo W, Xia K, Pan Q, Cai F, Hu Z, Zhang C, Chen B, Zhang F, Shen L, Zhang R, Jiang H.
    Arch Neurol; 2005 Aug 14; 62(8):1201-7. PubMed ID: 16087758
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