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Journal Abstract Search

135 related items for PubMed ID: 9143933

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  • 7. 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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  • 11. 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 13; 38(1):136-9. PubMed ID: 1707231
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  • 12. 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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  • 13. 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
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  • 14. 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 22; 20(4):309-11. PubMed ID: 10328282
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  • 15. Clinical and molecular evaluation of Italian patients affected by Pelizaeus-Merzbacher disease.
    Terregino C, Cardona F, Barbetti F, Antonozzi I, Carducci C.
    J Inherit Metab Dis; 1996 Apr 22; 19(2):197-200. PubMed ID: 8739964
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  • 16. 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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  • 17. 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
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  • 20. 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 15; 45(1):59-64. PubMed ID: 9894878
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