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Journal Abstract Search

146 related items for PubMed ID: 7488049

  • 1. 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
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  • 2. 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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  • 3. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
    Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O.
    Nat Genet; 1994 Mar 22; 6(3):257-62. PubMed ID: 8012387
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  • 5. Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members.
    Sivakumar K, Sambuughin N, Selenge B, Nagle JW, Baasanjav D, Hudson LD, Goldfarb LG.
    Ann Neurol; 1999 May 22; 45(5):680-3. PubMed ID: 10319897
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  • 8. 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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  • 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. A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.
    Lee ES, Moon HK, Park YH, Garbern J, Hobson GM.
    J Neurol Sci; 2004 Sep 15; 224(1-2):83-7. PubMed ID: 15450775
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  • 11. 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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  • 12. 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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  • 13. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.
    Cailloux F, Gauthier-Barichard F, Mimault C, Isabelle V, Courtois V, Giraud G, Dastugue B, Boespflug-Tanguy O.
    Eur J Hum Genet; 2000 Nov 13; 8(11):837-45. PubMed ID: 11093273
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  • 14. PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.
    Bonnet-Dupeyron MN, Combes P, Santander P, Cailloux F, Boespflug-Tanguy O, Vaurs-Barrière C.
    Hum Mutat; 2008 Aug 13; 29(8):1028-36. PubMed ID: 18470932
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  • 15. Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein (PLP) gene.
    Nagao M, Kadowaki J.
    J Hum Genet; 1998 Aug 13; 43(3):206-8. PubMed ID: 9747038
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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. 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 19; 9(2):125-9. PubMed ID: 11786921
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  • 18. Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease.
    Carango P, Funanage VL, Quirós RE, Debruyn CS, Marks HG.
    Ann Neurol; 1995 Oct 19; 38(4):610-7. PubMed ID: 7574457
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  • 19. A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease.
    Kurosawa K, Iwaki A, Miyake S, Imaizumi K, Kuroki Y, Fukumaki Y.
    Hum Mol Genet; 1993 Dec 19; 2(12):2187-9. PubMed ID: 7509234
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  • 20. Current concepts of PLP and its role in the nervous system.
    Griffiths I, Klugmann M, Anderson T, Thomson C, Vouyiouklis D, Nave KA.
    Microsc Res Tech; 1998 Jun 01; 41(5):344-58. PubMed ID: 9672418
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