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Journal Abstract Search

149 related items for PubMed ID: 15837131

  • 21. Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.
    Hobson GM, Huang Z, Sperle K, Sistermans E, Rogan PK, Garbern JY, Kolodny E, Naidu S, Cambi F.
    Hum Mutat; 2006 Jan; 27(1):69-77. PubMed ID: 16287154
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  • 23. Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
    Vaurs-Barrière C, Deville M, Sarret C, Giraud G, Des Portes V, Prats-Viñas JM, De Michele G, Dan B, Brady AF, Boespflug-Tanguy O, Touraine R.
    Ann Neurol; 2009 Jan; 65(1):114-8. PubMed ID: 19194886
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  • 24. Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.
    Lee JA, Madrid RE, Sperle K, Ritterson CM, Hobson GM, Garbern J, Lupski JR, Inoue K.
    Ann Neurol; 2006 Feb; 59(2):398-403. PubMed ID: 16374829
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  • 25. Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.
    Shimojima K, Inoue T, Imai Y, Arai Y, Komoike Y, Sugawara M, Fujita T, Ideguchi H, Yasumoto S, Kanno H, Hirose S, Yamamoto T.
    J Hum Genet; 2012 Sep; 57(9):580-6. PubMed ID: 22695888
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  • 26. A PLP splicing abnormality is associated with an unusual presentation of PMD.
    Hobson GM, Huang Z, Sperle K, Stabley DL, Marks HG, Cambi F.
    Ann Neurol; 2002 Oct; 52(4):477-88. PubMed ID: 12325077
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  • 29. [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; 2002 Oct; 37(5):436-8. PubMed ID: 14533091
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  • 30. Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.
    Hübner CA, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.
    Hum Mutat; 2005 Mar; 25(3):321-2. PubMed ID: 15712223
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  • 31. 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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  • 32. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders.
    Lee JA, Carvalho CM, Lupski JR.
    Cell; 2007 Dec 28; 131(7):1235-47. PubMed ID: 18160035
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  • 33. 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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  • 35. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 15; 56(3):105-52. PubMed ID: 19728970
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  • 36. [Early diagnosis of a serious form of Pelizaeus-Merzbacher's disease confirmed by molecular analysis of the gene for proto-lipoproteins].
    López-Pisón J, Muñoz-Albillos M, Moros-Peña M, Medrano-Marina P, Ruiz-Escusol S, Boespflug-Tanguy O.
    Rev Neurol; 2009 Aug 15; 29(5):429-32. PubMed ID: 10584245
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  • 39. Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease.
    Henneke M, Gegner S, Hahn A, Plecko-Startinig B, Weschke B, Gärtner J, Brockmann K.
    Neurology; 2010 Jun 01; 74(22):1785-9. PubMed ID: 20513814
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  • 40. Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.
    Hobson GM, Garbern JY.
    Semin Neurol; 2012 Feb 01; 32(1):62-7. PubMed ID: 22422208
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