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Journal Abstract Search

388 related items for PubMed ID: 19151366

  • 1. 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]

  • 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
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  • 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
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  • 4. 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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  • 7. 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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  • 8. 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
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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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  • 10. [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; 2011 Sep 15; 37(5):436-8. PubMed ID: 14533091
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  • 11. [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; 2011 Sep 15; 29(5):429-32. PubMed ID: 10584245
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  • 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 15; 128(Pt 4):743-51. PubMed ID: 15689360
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  • 15. 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 15; 35(9):877-80. PubMed ID: 23245814
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  • 17. Prenatal diagnosis of Pelizaeus-Merzbacher disease.
    Garbern J, Hobson G.
    Prenat Diagn; 2002 Nov 15; 22(11):1033-5. PubMed ID: 12424770
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  • 19. 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 15; 8(11):837-45. PubMed ID: 11093273
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