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473 related items for PubMed ID: 18470932

  • 1. 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; 29(8):1028-36. PubMed ID: 18470932
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.
    Woodward KJ.
    Expert Rev Mol Med; 2008 May 19; 10():e14. PubMed ID: 18485258
    [Abstract] [Full Text] [Related]

  • 4. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.
    Cailloux F, Gauthier-Barichard F, Mimault C, Isabelle V, Courtois V, Giraud G, Dastugue B, Boespflug-Tanguy O.
    Eur J Hum Genet; 2000 Nov 19; 8(11):837-45. PubMed ID: 11093273
    [Abstract] [Full Text] [Related]

  • 5. 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 Nov 19; 17(4):293-300. PubMed ID: 24519770
    [Abstract] [Full Text] [Related]

  • 6. Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.
    Wang JM, Wu Y, Wang HF, Deng YH, Yang YL, Qin J, Li XY, Wu XR, Jiang YW.
    Chin Med J (Engl); 2008 Sep 05; 121(17):1638-42. PubMed ID: 19024090
    [Abstract] [Full Text] [Related]

  • 7. 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 05; 27(1):69-77. PubMed ID: 16287154
    [Abstract] [Full Text] [Related]

  • 8. Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease.
    Carango P, Funanage VL, Quirós RE, Debruyn CS, Marks HG.
    Ann Neurol; 1995 Oct 05; 38(4):610-7. PubMed ID: 7574457
    [Abstract] [Full Text] [Related]

  • 9. 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 05; 35(9):877-80. PubMed ID: 23245814
    [Abstract] [Full Text] [Related]

  • 10. 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 05; 17(2):152. PubMed ID: 11180600
    [Abstract] [Full Text] [Related]

  • 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 05; 32(3):171-9. PubMed ID: 19328639
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.
    Hobson GM, Garbern JY.
    Semin Neurol; 2012 Feb 04; 32(1):62-7. PubMed ID: 22422208
    [Abstract] [Full Text] [Related]

  • 14. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.
    Inoue K.
    Neurogenetics; 2005 Feb 04; 6(1):1-16. PubMed ID: 15627202
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
    Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O.
    Nat Genet; 1994 Mar 01; 6(3):257-62. PubMed ID: 8012387
    [Abstract] [Full Text] [Related]

  • 17. PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients.
    Regis S, Grossi S, Corsolini F, Biancheri R, Filocamo M.
    Biochim Biophys Acta; 2009 Jun 01; 1792(6):548-54. PubMed ID: 19376225
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 128(Pt 4):743-51. PubMed ID: 15689360
    [Abstract] [Full Text] [Related]

  • 19. PLP overexpression perturbs myelin protein composition and myelination in a mouse model of Pelizaeus-Merzbacher disease.
    Karim SA, Barrie JA, McCulloch MC, Montague P, Edgar JM, Kirkham D, Anderson TJ, Nave KA, Griffiths IR, McLaughlin M.
    Glia; 2007 Mar 01; 55(4):341-51. PubMed ID: 17133418
    [Abstract] [Full Text] [Related]

  • 20. Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies.
    Vaurs-Barriere C, Bonnet-Dupeyron MN, Combes P, Gauthier-Barichard F, Reveles XT, Schiffmann R, Bertini E, Rodriguez D, Vago P, Armour JA, Saugier-Veber P, Frebourg T, Leach RJ, Boespflug-Tanguy O.
    Ann Hum Genet; 2006 Jan 01; 70(Pt 1):66-77. PubMed ID: 16441258
    [Abstract] [Full Text] [Related]

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