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Journal Abstract Search

161 related items for PubMed ID: 7539212

  • 1. 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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  • 2. 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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  • 3. 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
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  • 4. 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
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  • 9. 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
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  • 10. [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
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  • 14. 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
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  • 16. 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
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  • 17. 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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  • 18. Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy: clinical and molecular studies.
    Kaye EM, Doll RF, Natowicz MR, Smith FI.
    Ann Neurol; 1994 Dec 15; 36(6):916-9. PubMed ID: 7998780
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  • 19. A novel mutation in the proteolipid protein gene leading to Pelizaeus-Merzbacher disease.
    Otterbach B, Stoffel W, Ramaekers V.
    Biol Chem Hoppe Seyler; 1993 Jan 15; 374(1):75-83. PubMed ID: 7679906
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  • 20. Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease.
    Ellis D, Malcolm S.
    Nat Genet; 1994 Apr 15; 6(4):333-4. PubMed ID: 7519941
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