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Journal Abstract Search

205 related items for PubMed ID: 7505151

  • 1. New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1.
    Himoro M, Yoshikawa H, Matsui T, Mitsui Y, Takahashi M, Kaido M, Nishimura T, Sawaishi Y, Takada G, Hayasaka K.
    Biochem Mol Biol Int; 1993 Sep; 31(1):169-73. PubMed ID: 7505151
    [Abstract] [Full Text] [Related]

  • 2. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
    Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird TD, Conneally PM, Chance PF.
    Nat Genet; 1993 Sep; 5(1):31-4. PubMed ID: 7693129
    [Abstract] [Full Text] [Related]

  • 3. Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B.
    Kulkens T, Bolhuis PA, Wolterman RA, Kemp S, te Nijenhuis S, Valentijn LJ, Hensels GW, Jennekens FG, de Visser M, Hoogendijk JE.
    Nat Genet; 1993 Sep; 5(1):35-9. PubMed ID: 7693130
    [Abstract] [Full Text] [Related]

  • 4. Mutations in demyelinating peripheral neuropathies support molecular model of myelin P0-glycoprotein extracellular domain.
    Kirschner DA, Saavedra RA.
    J Neurosci Res; 1994 Sep 01; 39(1):63-9. PubMed ID: 7528817
    [Abstract] [Full Text] [Related]

  • 5. Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1.
    Hayasaka K, Ohnishi A, Takada G, Fukushima Y, Murai Y.
    Biochem Biophys Res Commun; 1993 Aug 16; 194(3):1317-22. PubMed ID: 7688964
    [Abstract] [Full Text] [Related]

  • 6. 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 Aug 16; 6(1):50-4. PubMed ID: 7550231
    [Abstract] [Full Text] [Related]

  • 7. Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.
    Kochański A, Kabzińska D, Drac H, Ryniewicz B, Rowińska-Marcińska K, Hausmanowa-Petrusewicz I.
    Eur J Paediatr Neurol; 2004 Aug 16; 8(4):221-4. PubMed ID: 15261887
    [Abstract] [Full Text] [Related]

  • 8. 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 Aug 16; 12(1):59-68. PubMed ID: 9633821
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.
    Hayasaka K, Takada G, Ionasescu VV.
    Hum Mol Genet; 1993 Sep 14; 2(9):1369-72. PubMed ID: 7694726
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. [A familial Charcot-Marie-Tooth disease type 1B (CMTD1B) manifesting a new mutation of myelin P0 gene].
    Mitsui Y, Matsui T, Nakamura Y, Takahashi M, Yoshikawa H, Hayasaka K.
    Rinsho Shinkeigaku; 1994 Nov 14; 34(11):1162-7. PubMed ID: 7537189
    [Abstract] [Full Text] [Related]

  • 13. Peripheral myelin protein 22 kDa and protein zero: domain specific trans-interactions.
    Hasse B, Bosse F, Hanenberg H, Müller HW.
    Mol Cell Neurosci; 2004 Dec 14; 27(4):370-8. PubMed ID: 15555916
    [Abstract] [Full Text] [Related]

  • 14. Regulation of myelin-specific gene expression. Relevance to CMT1.
    Kamholz J, Awatramani R, Menichella D, Jiang H, Xu W, Shy M.
    Ann N Y Acad Sci; 1999 Sep 14; 883():91-108. PubMed ID: 10586235
    [Abstract] [Full Text] [Related]

  • 15. 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 14; 20(5):392-8. PubMed ID: 12402337
    [Abstract] [Full Text] [Related]

  • 16. 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 Nov 14; 15(4):340-7. PubMed ID: 10737979
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.
    Nelis E, Timmerman V, De Jonghe P, Muylle L, Martin JJ, Van Broeckhoven C.
    J Med Genet; 1994 Oct 15; 31(10):811-5. PubMed ID: 7530774
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 47(1):101-3. PubMed ID: 10632107
    [Abstract] [Full Text] [Related]

  • 20. [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]

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