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207 related items for PubMed ID: 7694726

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

  • 2. 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
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  • 3. 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 16; 5(1):31-4. PubMed ID: 7693129
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  • 4. 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 16; 5(1):35-9. PubMed ID: 7693130
    [Abstract] [Full Text] [Related]

  • 5. 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 16; 31(10):811-5. PubMed ID: 7530774
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  • 6. Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.
    Su Y, Brooks DG, Li L, Lepercq J, Trofatter JA, Ravetch JV, Lebo RV.
    Proc Natl Acad Sci U S A; 1993 Nov 15; 90(22):10856-60. PubMed ID: 7504284
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  • 7. 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 15; 31(1):169-73. PubMed ID: 7505151
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  • 8. Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene.
    Blanquet-Grossard F, Pham-Dinh D, Dautigny A, Latour P, Bonnebouche C, Corbillon E, Chazot G, Vandenberghe A.
    Clin Genet; 1995 Dec 15; 48(6):281-3. PubMed ID: 8835320
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  • 9. Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met.
    Senderek J, Hermanns B, Lehmann U, Bergmann C, Marx G, Kabus C, Timmerman V, Stoltenburg-Didinger G, Schröder JM.
    Brain Pathol; 2000 Apr 15; 10(2):235-48. PubMed ID: 10764043
    [Abstract] [Full Text] [Related]

  • 10. Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.
    Roa BB, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR.
    Hum Mutat; 1996 Apr 15; 7(1):36-45. PubMed ID: 8664899
    [Abstract] [Full Text] [Related]

  • 11. 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 Apr 15; 6(1):50-4. PubMed ID: 7550231
    [Abstract] [Full Text] [Related]

  • 12. Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.
    Street VA, Meekins G, Lipe HP, Seltzer WK, Carter GT, Kraft GH, Bird TD.
    Neuromuscul Disord; 2002 Oct 15; 12(7-8):643-50. PubMed ID: 12207932
    [Abstract] [Full Text] [Related]

  • 13. De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B.
    Komiyama A, Ohnishi A, Izawa K, Yamamori S, Ohashi H, Hasegawa O.
    J Neurol Sci; 1997 Jul 15; 149(1):103-9. PubMed ID: 9168174
    [Abstract] [Full Text] [Related]

  • 14. Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome.
    Thomas FP, Lebo RV, Rosoklija G, Ding XS, Lovelace RE, Latov N, Hays AP.
    Acta Neuropathol; 1994 Jul 15; 87(1):91-7. PubMed ID: 7511317
    [Abstract] [Full Text] [Related]

  • 15. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ.
    Acta Neurol Scand Suppl; 2012 Jul 15; (193):iv-22. PubMed ID: 23106488
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