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Journal Abstract Search

153 related items for PubMed ID: 9747038

  • 1. Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein (PLP) gene.
    Nagao M, Kadowaki J.
    J Hum Genet; 1998; 43(3):206-8. PubMed ID: 9747038
    [Abstract] [Full Text] [Related]

  • 2. Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease.
    Hodes ME, Blank CA, Pratt VM, Morales J, Napier J, Dlouhy SR.
    Am J Med Genet; 1997 Mar 17; 69(2):121-5. PubMed ID: 9056547
    [Abstract] [Full Text] [Related]

  • 3. Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene.
    Pratt VM, Boyadjiev S, Dlouhy SR, Silver K, Der Kaloustian VM, Hodes ME.
    Am J Med Genet; 1995 Feb 13; 55(4):402-4. PubMed ID: 7539212
    [Abstract] [Full Text] [Related]

  • 4. New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease.
    Pratt VM, Trofatter JA, Larsen MB, Hodes ME, Dlouhy SR.
    Am J Med Genet; 1992 Jun 01; 43(3):642-6. PubMed ID: 1376553
    [Abstract] [Full Text] [Related]

  • 5. A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.
    Pratt VM, Trofatter JA, Schinzel A, Dlouhy SR, Conneally PM, Hodes ME.
    Am J Med Genet; 1991 Jan 01; 38(1):136-9. PubMed ID: 1707231
    [Abstract] [Full Text] [Related]

  • 6. Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene.
    Hodes ME, DeMyer WE, Pratt VM, Edwards MK, Dlouhy SR.
    Am J Med Genet; 1995 Feb 13; 55(4):397-401. PubMed ID: 7539211
    [Abstract] [Full Text] [Related]

  • 7. Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus.
    Pratt VM, Boyadjiev S, Green K, Hodes ME, Dlouhy SR.
    Am J Med Genet; 1995 Jul 31; 58(1):70-3. PubMed ID: 7573159
    [Abstract] [Full Text] [Related]

  • 8. A novel PLP mutation in a Japanese patient with mild Pelizaeus-Merzbacher disease.
    Kibe T, Miyahara J, Yokochi K, Iwaki A.
    Brain Dev; 2009 Mar 31; 31(3):248-51. PubMed ID: 18783902
    [Abstract] [Full Text] [Related]

  • 9. A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.
    Seeman P, Paderova K, Benes V, Sistermans EA.
    Int J Mol Med; 2002 Feb 31; 9(2):125-9. PubMed ID: 11786921
    [Abstract] [Full Text] [Related]

  • 10. Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene.
    Bond C, Si X, Crisp M, Wong P, Paulson GW, Boesel CP, Dlouhy SR, Hodes ME.
    Am J Med Genet; 1997 Aug 22; 71(3):357-60. PubMed ID: 9268109
    [Abstract] [Full Text] [Related]

  • 11. [Pelizaeus-Merzbacher disease].
    Koetsveld-Baart JC, Glaudemans-van Gelderen IE, Valk J, Barth PG.
    Ned Tijdschr Geneeskd; 1993 Nov 27; 137(48):2494-8. PubMed ID: 8272126
    [Abstract] [Full Text] [Related]

  • 12. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
    Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O.
    Nat Genet; 1994 Mar 27; 6(3):257-62. PubMed ID: 8012387
    [Abstract] [Full Text] [Related]

  • 13. Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males.
    Osaka H, Kawanishi C, Inoue K, Uesugi H, Hiroshi K, Nishiyama K, Yamada Y, Suzuki K, Kimura S, Kosaka K.
    Biochem Biophys Res Commun; 1995 Oct 24; 215(3):835-41. PubMed ID: 7488049
    [Abstract] [Full Text] [Related]

  • 14. Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene.
    Pratt VM, Dlouhy SR, Hodes ME.
    Clin Genet; 1995 Feb 24; 47(2):99-100. PubMed ID: 7541731
    [Abstract] [Full Text] [Related]

  • 15. In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.
    Kleindorfer DO, Dlouhy SR, Pratt VM, Jones MC, Trofatter JA, Hodes ME.
    Am J Med Genet; 1995 Feb 13; 55(4):405-7. PubMed ID: 7539213
    [Abstract] [Full Text] [Related]

  • 16. Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease.
    Carango P, Funanage VL, Quirós RE, Debruyn CS, Marks HG.
    Ann Neurol; 1995 Oct 13; 38(4):610-7. PubMed ID: 7574457
    [Abstract] [Full Text] [Related]

  • 17. A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family.
    Iwaki A, Muramoto T, Iwaki I, Furumi H, Dario-deLeon ML, Tateishi J, Fukumaki Y.
    Hum Mol Genet; 1993 Jan 13; 2(1):19-22. PubMed ID: 7683951
    [Abstract] [Full Text] [Related]

  • 18. A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.
    Yamamoto T, Nanba E.
    Hum Mutat; 1999 Aug 19; 14(2):182. PubMed ID: 10425042
    [No Abstract] [Full Text] [Related]

  • 19. Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.
    Wang JM, Wu Y, Wang HF, Deng YH, Yang YL, Qin J, Li XY, Wu XR, Jiang YW.
    Chin Med J (Engl); 2008 Sep 05; 121(17):1638-42. PubMed ID: 19024090
    [Abstract] [Full Text] [Related]

  • 20. A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease.
    Kurosawa K, Iwaki A, Miyake S, Imaizumi K, Kuroki Y, Fukumaki Y.
    Hum Mol Genet; 1993 Dec 05; 2(12):2187-9. PubMed ID: 7509234
    [Abstract] [Full Text] [Related]

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