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175 related items for PubMed ID: 12424770

  • 1. Prenatal diagnosis of Pelizaeus-Merzbacher disease.
    Garbern J, Hobson G.
    Prenat Diagn; 2002 Nov; 22(11):1033-5. PubMed ID: 12424770
    [No Abstract] [Full Text] [Related]

  • 2. Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization.
    Lee JA, Cheung SW, Ward PA, Inoue K, Lupski JR.
    Prenat Diagn; 2005 Dec; 25(13):1188-91. PubMed ID: 16353282
    [Abstract] [Full Text] [Related]

  • 3. 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; 24(5):618-24. PubMed ID: 19151366
    [Abstract] [Full Text] [Related]

  • 4. Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease.
    Gao Q, Thurston VC, Vance GH, Dlouhy SR, Hodes ME.
    Clin Genet; 2005 Nov; 68(5):466-7. PubMed ID: 16207216
    [Abstract] [Full Text] [Related]

  • 5. Myelin mishaps.
    Barkovich AJ.
    Ann Neurol; 2007 Aug; 62(2):107-9. PubMed ID: 17683086
    [No Abstract] [Full Text] [Related]

  • 6. Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR.
    Regis S, Filocamo M, Mazzotti R, Cusano R, Corsolini F, Bonuccelli G, Stroppiano M, Gatti R.
    Prenat Diagn; 2001 Aug; 21(8):668-71. PubMed ID: 11536268
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. [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; 2002 Feb; 29(5):429-32. PubMed ID: 10584245
    [Abstract] [Full Text] [Related]

  • 9. A novel deletion (c663delC) at exon 5 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
    Matsumura T, Osaka H, Inoue K, Sugiyama N, Onishi H, Yamada Y, Hayashi M, Kosaka K.
    Hum Mutat; 2001 Feb; 17(1):80. PubMed ID: 11139261
    [No Abstract] [Full Text] [Related]

  • 10. Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms.
    Muncke N, Wogatzky BS, Breuning M, Sistermans EA, Endris V, Ross M, Vetrie D, Catsman-Berrevoets CE, Rappold G.
    J Med Genet; 2004 Dec; 41(12):e121. PubMed ID: 15591263
    [No Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation.
    Warshawsky I, Rudick RA, Staugaitis SM, Natowicz MR.
    Ann Neurol; 2005 Sep; 58(3):470-3. PubMed ID: 16130097
    [Abstract] [Full Text] [Related]

  • 13. Rabbit paralytic tremor phenotype--a plp1 gene mutation as a model of human Pelizaeus-Merzbacher disease.
    Sypecka J, Domańska-Janik K.
    Acta Neurobiol Exp (Wars); 2005 Sep; 65(2):221-9. PubMed ID: 15960310
    [Abstract] [Full Text] [Related]

  • 14. [Pelizaeus-Merzbacher disease(PMD)/spastic paraplegia 2(SPG2)].
    Eto Y.
    Ryoikibetsu Shokogun Shirizu; 2000 Sep; (29 Pt 4):536-7. PubMed ID: 11032015
    [No Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease.
    Inoue K, Kanai M, Tanabe Y, Kubota T, Kashork CD, Wakui K, Fukushima Y, Lupski JR, Shaffer LG.
    Prenat Diagn; 2001 Dec 15; 21(13):1133-6. PubMed ID: 11787038
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
    Henneke M, Combes P, Diekmann S, Bertini E, Brockmann K, Burlina AP, Kaiser J, Ohlenbusch A, Plecko B, Rodriguez D, Boespflug-Tanguy O, Gärtner J.
    Neurology; 2008 Mar 04; 70(10):748-54. PubMed ID: 18094336
    [Abstract] [Full Text] [Related]

  • 20. Pelizaeus-Merzbacher disease: pathogenic mechanisms and insights into the roles of proteolipid protein 1 in the nervous system.
    Garbern JY.
    J Neurol Sci; 2005 Feb 15; 228(2):201-3. PubMed ID: 15694206
    [No Abstract] [Full Text] [Related]

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