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Journal Abstract Search

889 related items for PubMed ID: 10737979

  • 1. 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]

  • 2.
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  • 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. 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; 12(1):59-68. PubMed ID: 9633821
    [Abstract] [Full Text] [Related]

  • 5. 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; 24(2):185-6. PubMed ID: 15241803
    [Abstract] [Full Text] [Related]

  • 6. 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; 99(6):746-54. PubMed ID: 9187667
    [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. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.
    Nelis E, Haites N, Van Broeckhoven C.
    Hum Mutat; 1999 Jan; 13(1):11-28. PubMed ID: 9888385
    [Abstract] [Full Text] [Related]

  • 9. 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 Jan; 18(1):32-41. PubMed ID: 11438991
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Charcot-Marie-Tooth disease and related inherited neuropathies.
    Murakami T, Garcia CA, Reiter LT, Lupski JR.
    Medicine (Baltimore); 1996 Sep 14; 75(5):233-50. PubMed ID: 8862346
    [Abstract] [Full Text] [Related]

  • 12. Mutational analysis of GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in Serbian Charcot-Marie-Tooth patients.
    Keckarevic-Markovic M, Milic-Rasic V, Mladenovic J, Dackovic J, Kecmanovic M, Keckarevic D, Savic-Pavicevic D, Romac S.
    J Peripher Nerv Syst; 2009 Jun 14; 14(2):125-36. PubMed ID: 19691535
    [Abstract] [Full Text] [Related]

  • 13. Inherited peripheral neuropathy.
    Keller MP, Chance PF.
    Semin Neurol; 1999 Jun 14; 19(4):353-62. PubMed ID: 10716658
    [Abstract] [Full Text] [Related]

  • 14. [PCR in the gene diagnosis of Charcot-Marie-Tooth disease].
    Xiao J, Tang B, Xia J.
    Zhonghua Yi Xue Za Zhi; 2001 Feb 10; 81(3):138-41. PubMed ID: 11798863
    [Abstract] [Full Text] [Related]

  • 15. Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.
    Yoshihara T, Yamamoto M, Doyu M, Mis KI, Hattori N, Hasegawa Y, Mokuno K, Mitsuma T, Sobue G.
    Hum Mutat; 2000 Aug 10; 16(2):177-8. PubMed ID: 10923043
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  • 17. [Genetics of peripheral neuropathies and hereditary ataxias].
    Palau F, Sevilla T.
    Neurologia; 1995 Dec 10; 10 Suppl 1():32-43. PubMed ID: 8838557
    [Abstract] [Full Text] [Related]

  • 18. Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.
    Lee YC, Soong BW, Lin KP, Lee HY, Wu ZA, Kao KP.
    J Neurol Sci; 2004 Apr 15; 219(1-2):95-100. PubMed ID: 15050444
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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 15; 2(4):370-87. PubMed ID: 10975746
    [Abstract] [Full Text] [Related]

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