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Journal Abstract Search

293 related items for PubMed ID: 21177054

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. 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 Sep 15; 17(4):293-300. PubMed ID: 24519770
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. A novel PLP mutation in a Japanese patient with mild Pelizaeus-Merzbacher disease.
    Kibe T, Miyahara J, Yokochi K, Iwaki A.
    Brain Dev; 2009 Mar 05; 31(3):248-51. PubMed ID: 18783902
    [Abstract] [Full Text] [Related]

  • 7. 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 05; 29(8):1028-36. PubMed ID: 18470932
    [Abstract] [Full Text] [Related]

  • 8. 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 05; 8(11):837-45. PubMed ID: 11093273
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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 19; 32(3):171-9. PubMed ID: 19328639
    [Abstract] [Full Text] [Related]

  • 11. Pelizaeus-Merzbacher disease as a chromosomal disorder.
    Yamamoto T, Shimojima K.
    Congenit Anom (Kyoto); 2013 Mar 19; 53(1):3-8. PubMed ID: 23480352
    [Abstract] [Full Text] [Related]

  • 12. 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 19; 35(9):877-80. PubMed ID: 23245814
    [Abstract] [Full Text] [Related]

  • 13. 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 19; 128(Pt 4):743-51. PubMed ID: 15689360
    [Abstract] [Full Text] [Related]

  • 14. [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; 2005 Apr 19; 37(5):436-8. PubMed ID: 14533091
    [Abstract] [Full Text] [Related]

  • 15. 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 19; 17(2):152. PubMed ID: 11180600
    [Abstract] [Full Text] [Related]

  • 16. 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 19; 24(5):618-24. PubMed ID: 19151366
    [Abstract] [Full Text] [Related]

  • 17. 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 19; 37(4):455-8. PubMed ID: 25043250
    [Abstract] [Full Text] [Related]

  • 18. Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.
    Shimojima K, Mano T, Kashiwagi M, Tanabe T, Sugawara M, Okamoto N, Arai H, Yamamoto T.
    Eur J Med Genet; 2012 Jun 19; 55(6-7):400-3. PubMed ID: 22490426
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Mild phenotype in Pelizaeus-Merzbacher disease caused by a PLP1-specific mutation.
    Osaka H, Koizume S, Aoyama H, Iwamoto H, Kimura S, Nagai J, Kurosawa K, Yamashita S.
    Brain Dev; 2010 Oct 15; 32(9):703-7. PubMed ID: 20022439
    [Abstract] [Full Text] [Related]

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