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Journal Abstract Search

425 related items for PubMed ID: 15627202

  • 1. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.
    Inoue K.
    Neurogenetics; 2005 Feb; 6(1):1-16. PubMed ID: 15627202
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  • 2. 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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  • 3. 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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  • 5. 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 15; 29(8):1028-36. PubMed ID: 18470932
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  • 6. Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype.
    Hoffman-Zacharska D, Kmieć T, Poznański J, Jurek M, Bal J.
    Brain Dev; 2013 Oct 15; 35(9):877-80. PubMed ID: 23245814
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  • 7. PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report.
    Mądry J, Hoffman-Zacharska D, Królicki L, Jakuciński M, Friedman A.
    Neurol Neurochir Pol; 2010 Oct 15; 44(5):511-5. PubMed ID: 21082496
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  • 8. Pelizaeus-Merzbacher Disease: Molecular and Cellular Pathologies and Associated Phenotypes.
    Inoue K.
    Adv Exp Med Biol; 2019 Oct 15; 1190():201-216. PubMed ID: 31760646
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  • 9. Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis.
    Garbern JY.
    Cell Mol Life Sci; 2007 Jan 15; 64(1):50-65. PubMed ID: 17115121
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  • 10. Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.
    Hobson GM, Garbern JY.
    Semin Neurol; 2012 Feb 15; 32(1):62-7. PubMed ID: 22422208
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  • 11. A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.
    Shiihara T, Watanabe M, Moriyama K, Uematsu M, Sameshima K.
    Brain Dev; 2015 Apr 15; 37(4):455-8. PubMed ID: 25043250
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  • 12. Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene.
    Hudson LD.
    J Child Neurol; 2003 Sep 15; 18(9):616-24. PubMed ID: 14572140
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  • 16. CNS myelination and PLP gene dosage.
    Woodward K, Malcolm S.
    Pharmacogenomics; 2001 Aug 15; 2(3):263-72. PubMed ID: 11535114
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  • 17. A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease.
    Hobson G, Stabley D, Funanage V, Marks H.
    Hum Mutat; 2001 Feb 15; 17(2):152. PubMed ID: 11180600
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  • 18. 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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  • 20. Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1.
    Sima AA, Pierson CR, Woltjer RL, Hobson GM, Golden JA, Kupsky WJ, Schauer GM, Bird TD, Skoff RP, Garbern JY.
    Acta Neuropathol; 2009 Oct 15; 118(4):531-9. PubMed ID: 19562355
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