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Journal Abstract Search

101 related items for PubMed ID: 9894878

  • 1. Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity.
    Osaka H, Kawanishi C, Inoue K, Onishi H, Kobayashi T, Sugiyama N, Kosaka K, Nezu A, Fujii K, Sugita K, Kodama K, Murayama K, Murayama S, Kanazawa I, Kimura S.
    Ann Neurol; 1999 Jan; 45(1):59-64. PubMed ID: 9894878
    [Abstract] [Full Text] [Related]

  • 2. Duplication of proteolipid protein gene: a possible major cause of Pelizaeus-Merzbacher disease.
    Wang PJ, Hwu WL, Lee WT, Wang TR, Shen YZ.
    Pediatr Neurol; 1997 Sep; 17(2):125-8. PubMed ID: 9367291
    [Abstract] [Full Text] [Related]

  • 3. Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease.
    Inoue K, Osaka H, Kawanishi C, Sugiyama N, Ishii M, Sugita K, Yamada Y, Kosaka K.
    Neurology; 1997 Jan; 48(1):283-5. PubMed ID: 9008538
    [Abstract] [Full Text] [Related]

  • 4. A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
    Pratt VM, Naidu S, Dlouhy SR, Marks HG, Hodes ME.
    Neurology; 1995 Feb; 45(2):394-5. PubMed ID: 7531827
    [No Abstract] [Full Text] [Related]

  • 5. A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease.
    Kawanishi C, Osaka H, Owa K, Inoue K, Miyakawa T, Onishi H, Yamada Y, Suzuki K, Kimura S, Kosaka K.
    Hum Mutat; 1997 Feb; 9(5):475-6. PubMed ID: 9143933
    [No Abstract] [Full Text] [Related]

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  • 7. Pelizaeus-Merzbacher-like disease: exclusion of the proteolipid protein locus and documentation of a new locus on Xq.
    Lazzarini A, Schwarz KO, Jiang S, Stenroos ES, Lehner T, Johnson WG.
    Neurology; 1997 Sep; 49(3):824-32. PubMed ID: 9305348
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  • 8. 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]

  • 9. A new proteolipid lipoprotein mutation in Pelizaeus-Merzbacher disease.
    Verhagen WI, Huygen PL, Smeets HJ, Renier WO, de Wijs I.
    J Neurol Sci; 1997 Apr 15; 147(2):215-6. PubMed ID: 9106132
    [No Abstract] [Full Text] [Related]

  • 10. A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease.
    Hodes ME, Aydanian A, Dlouhy SR, Whelan DT, Heshka T, Ronen G.
    Clin Genet; 1998 Sep 15; 54(3):248-9. PubMed ID: 9788732
    [No Abstract] [Full Text] [Related]

  • 11. Connatal Pelizaeus-Merzbacher disease associated with the jimpy(msd) mice mutation.
    Komaki H, Sasaki M, Yamamoto T, Iai M, Takashima S.
    Pediatr Neurol; 1999 Apr 15; 20(4):309-11. PubMed ID: 10328282
    [Abstract] [Full Text] [Related]

  • 12. Pelizaeus-Merzbacher disease: a novel mutation in the 5'-untranslated region of the proteolipid protein gene.
    Kawanishi C, Sugiyama N, Osaka H, Inoue K, Suzuki K, Onishi H, Yamada Y, Nezu A, Kimura S, Kosaka K.
    Hum Mutat; 1996 Apr 15; 7(4):355-7. PubMed ID: 8723686
    [No Abstract] [Full Text] [Related]

  • 13. 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 15; 47(2):99-100. PubMed ID: 7541731
    [Abstract] [Full Text] [Related]

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  • 15. 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]

  • 16. Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease.
    Yamamoto T, Nanba E, Zhang H, Sasaki M, Komaki H, Takeshita K.
    Am J Med Genet; 1998 Feb 03; 75(4):439-40. PubMed ID: 9482656
    [No Abstract] [Full Text] [Related]

  • 17. 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
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  • 19. 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
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