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Journal Abstract Search

248 related items for PubMed ID: 2773936

  • 21. 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]

  • 22. Genetics of Pelizaeus-Merzbacher disease.
    Hodes ME, Pratt VM, Dlouhy SR.
    Dev Neurosci; 1993 Sep; 15(6):383-94. PubMed ID: 7530633
    [Abstract] [Full Text] [Related]

  • 23. 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
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  • 24. 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]

  • 25. Myelin proteolipid protein mutation in the rabbit: a new model of Pelizaeus-Merzbacher disease.
    Tosic M, Dolivo M, Domanska-Janik K, Matthieu JM.
    Schweiz Arch Neurol Psychiatr (1985); 1994 Jan 13; 145(3):24-6. PubMed ID: 7533932
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  • 26. Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease.
    Doll R, Natowicz MR, Schiffmann R, Smith FI.
    Am J Hum Genet; 1992 Jul 13; 51(1):161-9. PubMed ID: 1376966
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  • 27. 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 13; 49(3):824-32. PubMed ID: 9305348
    [Abstract] [Full Text] [Related]

  • 28. 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 13; 45(2):394-5. PubMed ID: 7531827
    [No Abstract] [Full Text] [Related]

  • 29. A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene.
    Harding B, Ellis D, Malcolm S.
    Neuropathol Appl Neurobiol; 1995 Apr 13; 21(2):111-5. PubMed ID: 7541900
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  • 32. Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.
    Woodward K, Kendall E, Vetrie D, Malcolm S.
    Am J Hum Genet; 1998 Jul 13; 63(1):207-17. PubMed ID: 9634530
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  • 34. Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA.
    Bridge PJ, MacLeod PM, Lillicrap DP.
    Am J Med Genet; 1991 Mar 15; 38(4):616-21. PubMed ID: 1676565
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  • 37. A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR.
    Inoue K, Osaka H, Sugiyama N, Kawanishi C, Onishi H, Nezu A, Kimura K, Yamada Y, Kosaka K.
    Am J Hum Genet; 1996 Jul 15; 59(1):32-9. PubMed ID: 8659540
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  • 38. Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).
    Hodes ME, Zimmerman AW, Aydanian A, Naidu S, Miller NR, Garcia Oller JL, Barker B, Aleck KA, Hurley TD, Dlouhy SR.
    Am J Med Genet; 1999 Jan 15; 82(2):132-9. PubMed ID: 9934976
    [Abstract] [Full Text] [Related]

  • 39. A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family.
    Sistermans EA, de Wijs IJ, de Coo RF, Smit LM, Menko FH, van Oost BA.
    Hum Genet; 1996 Mar 15; 97(3):337-9. PubMed ID: 8786077
    [Abstract] [Full Text] [Related]

  • 40. 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]

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