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Journal Abstract Search

130 related items for PubMed ID: 10328282

  • 1. 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; 20(4):309-11. PubMed ID: 10328282
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Pelizaeus-Merzbacher disease.
    Anderson TJ, Griffiths IR.
    Lab Anim Sci; 1999 Feb 03; 49(1):54-7. PubMed ID: 10090095
    [No Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. [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]

  • 6. 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 27; 9(2):125-9. PubMed ID: 11786921
    [Abstract] [Full Text] [Related]

  • 7. 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 27; 54(3):248-9. PubMed ID: 9788732
    [No Abstract] [Full Text] [Related]

  • 8. 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 27; 47(2):99-100. PubMed ID: 7541731
    [Abstract] [Full Text] [Related]

  • 9. 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 27; 17(2):125-8. PubMed ID: 9367291
    [Abstract] [Full Text] [Related]

  • 10. Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice.
    Woodward K, Malcolm S.
    Trends Genet; 1999 Apr 27; 15(4):125-8. PubMed ID: 10203813
    [Abstract] [Full Text] [Related]

  • 11. 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 Apr 27; 9(5):475-6. PubMed ID: 9143933
    [No Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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]

  • 14. Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus-Merzbacher disease.
    Gow A, Southwood CM, Lazzarini RA.
    J Cell Biol; 1998 Feb 23; 140(4):925-34. PubMed ID: 9472043
    [Abstract] [Full Text] [Related]

  • 15. 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 23; 49(3):824-32. PubMed ID: 9305348
    [Abstract] [Full Text] [Related]

  • 16. 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 Sep 23; 7(4):355-7. PubMed ID: 8723686
    [No Abstract] [Full Text] [Related]

  • 17. Comparative immunocytochemistry of Pelizaeus-Merzbacher disease, the jimpy mouse, and the myelin-deficient rat.
    Koeppen AH, Barron KD, Csiza CK, Greenfield EA.
    J Neurol Sci; 1988 Apr 23; 84(2-3):315-27. PubMed ID: 2454299
    [Abstract] [Full Text] [Related]

  • 18. Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.
    Gencic S, Abuelo D, Ambler M, Hudson LD.
    Am J Hum Genet; 1989 Sep 23; 45(3):435-42. PubMed ID: 2773936
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease.
    Koeppen AH, Ronca NA, Greenfield EA, Hans MB.
    Ann Neurol; 1987 Feb 17; 21(2):159-70. PubMed ID: 3827224
    [Abstract] [Full Text] [Related]

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