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Journal Abstract Search

289 related items for PubMed ID: 22490426

  • 1. Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.
    Shimojima K, Mano T, Kashiwagi M, Tanabe T, Sugawara M, Okamoto N, Arai H, Yamamoto T.
    Eur J Med Genet; 2012 Jun; 55(6-7):400-3. PubMed ID: 22490426
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  • 2. 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; 17(4):293-300. PubMed ID: 24519770
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  • 3. Pelizaeus-Merzbacher disease as a chromosomal disorder.
    Yamamoto T, Shimojima K.
    Congenit Anom (Kyoto); 2013 Mar; 53(1):3-8. PubMed ID: 23480352
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  • 6. Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.
    Wolf NI, Sistermans EA, Cundall M, Hobson GM, Davis-Williams AP, Palmer R, Stubbs P, Davies S, Endziniene M, Wu Y, Chong WK, Malcolm S, Surtees R, Garbern JY, Woodward KJ.
    Brain; 2005 Apr; 128(Pt 4):743-51. PubMed ID: 15689360
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  • 7. Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.
    Shimojima K, Inoue T, Hoshino A, Kakiuchi S, Watanabe Y, Sasaki M, Nishimura A, Takeshita-Yanagisawa A, Tajima G, Ozawa H, Kubota M, Tohyama J, Sasaki M, Oka A, Saito K, Osawa M, Yamamoto T.
    Brain Dev; 2010 Mar; 32(3):171-9. PubMed ID: 19328639
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  • 10. 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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  • 12. Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
    Beck CR, Carvalho CM, Banser L, Gambin T, Stubbolo D, Yuan B, Sperle K, McCahan SM, Henneke M, Seeman P, Garbern JY, Hobson GM, Lupski JR.
    PLoS Genet; 2015 Mar 19; 11(3):e1005050. PubMed ID: 25749076
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  • 13. 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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  • 14. 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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  • 17. 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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