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Journal Abstract Search

149 related items for PubMed ID: 15837131

  • 1. 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; 132(3):697-701. PubMed ID: 15837131
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  • 2. 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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  • 3. 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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  • 5. 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
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  • 6. 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 15; 9(2):125-9. PubMed ID: 11786921
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  • 9. 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 15; 33(8):697-9. PubMed ID: 21177054
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  • 11. 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 15; 32(3):171-9. PubMed ID: 19328639
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  • 12. 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 Mar 15; 17(4):293-300. PubMed ID: 24519770
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  • 13. 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 15; 29(7):924-31. PubMed ID: 23771846
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  • 14. Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype.
    Plecko B, Stöckler-Ipsiroglu S, Gruber S, Mlynarik V, Moser E, Simbrunner J, Ebner F, Bernert G, Harrer G, Gal A, Prayer D.
    Neuropediatrics; 2003 Jun 15; 34(3):127-36. PubMed ID: 12910435
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  • 15. Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.
    Fattal-Valevski A, DiMaio MS, Hisama FM, Hobson GM, Davis-Williams A, Garbern JY, Mahoney MJ, Kolodny EH, Pastores GM.
    J Child Neurol; 2009 May 15; 24(5):618-24. PubMed ID: 19151366
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  • 16. Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation.
    Warshawsky I, Rudick RA, Staugaitis SM, Natowicz MR.
    Ann Neurol; 2005 Sep 15; 58(3):470-3. PubMed ID: 16130097
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  • 19. 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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