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Journal Abstract Search

460 related items for PubMed ID: 18470932

  • 21. Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease.
    Laššuthová P, Žaliová M, Inoue K, Haberlová J, Sixtová K, Sakmaryová I, Paděrová K, Mazanec R, Zámečník J, Šišková D, Garbern J, Seeman P.
    J Child Neurol; 2014 Jul; 29(7):924-31. PubMed ID: 23771846
    [Abstract] [Full Text] [Related]

  • 22. Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA.
    Hübner CA, Senning A, Orth U, Zerres K, Urbach H, Gal A, Rudnik-Schöneborn S.
    Neuroscience; 2005 Jul; 132(3):697-701. PubMed ID: 15837131
    [Abstract] [Full Text] [Related]

  • 23. 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; 9(2):125-9. PubMed ID: 11786921
    [Abstract] [Full Text] [Related]

  • 24. A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease.
    Fukumura S, Adachi N, Nagao M, Tsutsumi H.
    Brain Dev; 2011 Sep; 33(8):697-9. PubMed ID: 21177054
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 26. Aberrant trafficking of a proteolipid protein in a mild Pelizaeus-Merzbacher disease.
    Koizume S, Takizawa S, Fujita K, Aida N, Yamashita S, Miyagi Y, Osaka H.
    Neuroscience; 2006 Sep 15; 141(4):1861-9. PubMed ID: 16844304
    [Abstract] [Full Text] [Related]

  • 27. Pelizaeus-Merzbacher disease as a chromosomal disorder.
    Yamamoto T, Shimojima K.
    Congenit Anom (Kyoto); 2013 Mar 15; 53(1):3-8. PubMed ID: 23480352
    [Abstract] [Full Text] [Related]

  • 28. PLP1 gene analysis in 88 patients with leukodystrophy.
    Martínez-Montero P, Muñoz-Calero M, Vallespín E, Campistol J, Martorell L, Ruiz-Falcó MJ, Santana A, Pons R, Dinopoulos A, Sierra C, Nevado J, Molano J.
    Clin Genet; 2013 Dec 15; 84(6):566-71. PubMed ID: 23347225
    [Abstract] [Full Text] [Related]

  • 29. PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.
    Taube JR, Sperle K, Banser L, Seeman P, Cavan BC, Garbern JY, Hobson GM.
    Hum Mol Genet; 2014 Oct 15; 23(20):5464-78. PubMed ID: 24890387
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  • 33. 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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  • 35. GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.
    Bugiani M, Al Shahwan S, Lamantea E, Bizzi A, Bakhsh E, Moroni I, Balestrini MR, Uziel G, Zeviani M.
    Neurology; 2006 Jul 25; 67(2):273-9. PubMed ID: 16707726
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  • 36. 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
    [Abstract] [Full Text] [Related]

  • 37. 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 15; 52(4):477-88. PubMed ID: 12325077
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  • 38. Processing of PLP in a model of Pelizaeus-Merzbacher disease/SPG2 due to the rumpshaker mutation.
    McLaughlin M, Barrie JA, Karim S, Montague P, Edgar JM, Kirkham D, Thomson CE, Griffiths IR.
    Glia; 2006 May 15; 53(7):715-22. PubMed ID: 16506223
    [Abstract] [Full Text] [Related]

  • 39. PLP/DM20 expression and turnover in a transgenic mouse model of Pelizaeus-Merzbacher disease.
    Karim SA, Barrie JA, McCulloch MC, Montague P, Edgar JM, Iden DL, Anderson TJ, Nave KA, Griffiths IR, McLaughlin M.
    Glia; 2010 Nov 01; 58(14):1727-38. PubMed ID: 20629189
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  • 40. Clinically relevant intronic splicing enhancer mutation in myelin proteolipid protein leads to progressive microglia and astrocyte activation in white and gray matter regions of the brain.
    Bachstetter AD, Webster SJ, Van Eldik LJ, Cambi F.
    J Neuroinflammation; 2013 Dec 05; 10():146. PubMed ID: 24314267
    [Abstract] [Full Text] [Related]

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