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Journal Abstract Search

454 related items for PubMed ID: 9888385

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. 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; 15(4):340-7. PubMed ID: 10737979
    [Abstract] [Full Text] [Related]

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

  • 4. Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
    Mostacciuolo ML, Righetti E, Zortea M, Bosello V, Schiavon F, Vallo L, Merlini L, Siciliano G, Fabrizi GM, Rizzuto N, Milani M, Baratta S, Taroni F.
    Hum Mutat; 2001; 18(1):32-41. PubMed ID: 11438991
    [Abstract] [Full Text] [Related]

  • 5. Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
    Numakura C, Lin C, Ikegami T, Guldberg P, Hayasaka K.
    Hum Mutat; 2002 Nov; 20(5):392-8. PubMed ID: 12402337
    [Abstract] [Full Text] [Related]

  • 6. Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
    Silander K, Meretoja P, Juvonen V, Ignatius J, Pihko H, Saarinen A, Wallden T, Herrgård E, Aula P, Savontaus ML.
    Hum Mutat; 1998 Nov; 12(1):59-68. PubMed ID: 9633821
    [Abstract] [Full Text] [Related]

  • 7. Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
    Huehne K, Benes V, Thiel C, Kraus C, Kress W, Hoeltzenbein M, Ploner CJ, Kotzian J, Reis A, Rott HD, Rautenstrauss BW.
    Hum Mutat; 2003 Jan; 21(1):100. PubMed ID: 12497641
    [Abstract] [Full Text] [Related]

  • 8.
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  • 9. Genetic basis of inherited peripheral neuropathies.
    Suter U, Patel PI.
    Hum Mutat; 1994 Jan; 3(2):95-102. PubMed ID: 7515304
    [Abstract] [Full Text] [Related]

  • 10. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
    Nelis E, Van Broeckhoven C, De Jonghe P, Löfgren A, Vandenberghe A, Latour P, Le Guern E, Brice A, Mostacciuolo ML, Schiavon F, Palau F, Bort S, Upadhyaya M, Rocchi M, Archidiacono N, Mandich P, Bellone E, Silander K, Savontaus ML, Navon R, Goldberg-Stern H, Estivill X, Volpini V, Friedl W, Gal A.
    Eur J Hum Genet; 1996 Jan; 4(1):25-33. PubMed ID: 8800924
    [Abstract] [Full Text] [Related]

  • 11. [Molecular genetics of inherited neuropathies].
    Takashima H.
    Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
    [Abstract] [Full Text] [Related]

  • 12. Inherited peripheral neuropathy.
    Keller MP, Chance PF.
    Semin Neurol; 1999 Jan; 19(4):353-62. PubMed ID: 10716658
    [Abstract] [Full Text] [Related]

  • 13. [Genetics of peripheral neuropathies and hereditary ataxias].
    Palau F, Sevilla T.
    Neurologia; 1995 Dec; 10 Suppl 1():32-43. PubMed ID: 8838557
    [Abstract] [Full Text] [Related]

  • 14. [Mutation of the myelin Po gene in hereditary motor and sensory neuropathy].
    Hayasaka K.
    Rinsho Shinkeigaku; 1995 Dec; 35(12):1444-6. PubMed ID: 8752425
    [Abstract] [Full Text] [Related]

  • 15. Charcot-Marie-Tooth disease and related peripheral neuropathies.
    De Jonghe P, Timmerman V, Nelis E, Martin JJ, Van Broeckhoven C.
    J Peripher Nerv Syst; 1997 Dec; 2(4):370-87. PubMed ID: 10975746
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 01; 99(6):746-54. PubMed ID: 9187667
    [Abstract] [Full Text] [Related]

  • 18. Charcot-Marie-Tooth disease and related inherited neuropathies.
    Murakami T, Garcia CA, Reiter LT, Lupski JR.
    Medicine (Baltimore); 1996 Sep 01; 75(5):233-50. PubMed ID: 8862346
    [Abstract] [Full Text] [Related]

  • 19. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
    Choi BO, Lee MS, Shin SH, Hwang JH, Choi KG, Kim WK, Sunwoo IN, Kim NK, Chung KW.
    Hum Mutat; 2004 Aug 01; 24(2):185-6. PubMed ID: 15241803
    [Abstract] [Full Text] [Related]

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