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Journal Abstract Search

450 related items for PubMed ID: 9633821

  • 1. 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]

  • 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
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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. 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
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  • 5. 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]

  • 6. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.
    Nelis E, Haites N, Van Broeckhoven C.
    Hum Mutat; 1999 Sep 14; 13(1):11-28. PubMed ID: 9888385
    [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 14; 21(1):100. PubMed ID: 12497641
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  • 9. 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 14; 99(6):746-54. PubMed ID: 9187667
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  • 14. Molecular basis of hereditary neuropathies.
    Chance PF.
    Phys Med Rehabil Clin N Am; 2001 May 14; 12(2):277-91. PubMed ID: 11345007
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  • 16. [Mutation of the myelin Po gene in hereditary motor and sensory neuropathy].
    Hayasaka K.
    Rinsho Shinkeigaku; 1995 Dec 14; 35(12):1444-6. PubMed ID: 8752425
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  • 17. Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.
    Latour P, Blanquet F, Nelis E, Bonnebouche C, Chapon F, Diraison P, Ollagnon E, Dautigny A, Pham-Dinh D, Chazot G.
    Hum Mutat; 1995 Dec 14; 6(1):50-4. PubMed ID: 7550231
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  • 18. 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 14; 30(4):379-88. PubMed ID: 22131320
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  • 19. 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 14; 16(2):177-8. PubMed ID: 10923043
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  • 20. Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1.
    Numakura C, Lin C, Oka N, Akiguchi I, Hayasaka K.
    Ann Neurol; 2000 Jan 14; 47(1):101-3. PubMed ID: 10632107
    [Abstract] [Full Text] [Related]

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