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Journal Abstract Search

203 related items for PubMed ID: 10319885

  • 1. Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations.
    Inoue K, Osaka H, Imaizumi K, Nezu A, Takanashi J, Arii J, Murayama K, Ono J, Kikawa Y, Mito T, Shaffer LG, Lupski JR.
    Ann Neurol; 1999 May; 45(5):624-32. PubMed ID: 10319885
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  • 3. 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; 8(11):837-45. PubMed ID: 11093273
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  • 4. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
    Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR.
    Hum Mol Genet; 2006 Jul 15; 15(14):2250-65. PubMed ID: 16774974
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  • 5. The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.
    Woodward KJ.
    Expert Rev Mol Med; 2008 May 19; 10():e14. PubMed ID: 18485258
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  • 9. Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease.
    Gao Q, Thurston VC, Vance GH, Dlouhy SR, Hodes ME.
    Clin Genet; 2005 Nov 19; 68(5):466-7. PubMed ID: 16207216
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  • 10. 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 19; 63(1):207-17. PubMed ID: 9634530
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  • 11. 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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  • 12. Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.
    Wang JM, Wu Y, Wang HF, Deng YH, Yang YL, Qin J, Li XY, Wu XR, Jiang YW.
    Chin Med J (Engl); 2008 Sep 05; 121(17):1638-42. PubMed ID: 19024090
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  • 13. Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.
    Sistermans EA, de Coo RF, De Wijs IJ, Van Oost BA.
    Neurology; 1998 Jun 05; 50(6):1749-54. PubMed ID: 9633722
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  • 14. The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.
    Hoffman-Zacharska D, Mierzewska H, Szczepanik E, Poznański J, Mazurczak T, Jakubiuk-Tomaszuk A, Mądry J, Kierdaszuk A, Bal J.
    Med Wieku Rozwoj; 2013 Jun 05; 17(4):293-300. PubMed ID: 24519770
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  • 15. 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 05; 6(3):257-62. PubMed ID: 8012387
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  • 16. 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 05; 38(4):610-7. PubMed ID: 7574457
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  • 17. Prenatal diagnosis by FISH in a family with Pelizaeus-Merzbacher disease caused by duplication of PLP gene.
    Woodward K, Palmer R, Rao K, Malcolm S.
    Prenat Diagn; 1999 Mar 05; 19(3):266-8. PubMed ID: 10210128
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  • 18. 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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  • 19. 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 17; 29(8):1028-36. PubMed ID: 18470932
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  • 20. [Duplication of the PLP gene and the classical form of Pelizaeus-Merzbacher disease].
    Blanco-Barca MO, Eirís-Puñal J, Soler-Regal C, Castro-Gago M.
    Rev Neurol; 2008 Aug 17; 37(5):436-8. PubMed ID: 14533091
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