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Journal Abstract Search

312 related items for PubMed ID: 27793435

  • 1. A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding.
    Pavlidou E, Ramachandran V, Govender V, Wilson C, Das R, Vlachou V, Pavlou E, Saggar A, Mankad K, Kinali M.
    Brain Dev; 2017 Mar; 39(3):271-274. PubMed ID: 27793435
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  • 2. 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; 17(4):293-300. PubMed ID: 24519770
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  • 3. 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; 35(9):877-80. PubMed ID: 23245814
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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; 32(3):171-9. PubMed ID: 19328639
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  • 5. Pelizaeus-Merzbacher disease as a chromosomal disorder.
    Yamamoto T, Shimojima K.
    Congenit Anom (Kyoto); 2013 Mar; 53(1):3-8. PubMed ID: 23480352
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  • 6. 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; 37(4):455-8. PubMed ID: 25043250
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  • 7. The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.
    Sumida K, Inoue K, Takanashi J, Sasaki M, Watanabe K, Suzuki M, Kurahashi H, Omata T, Tanaka M, Yokochi K, Iio J, Iyoda K, Kurokawa T, Matsuo M, Sato T, Iwaki A, Osaka H, Kurosawa K, Yamamoto T, Matsumoto N, Maikusa N, Matsuda H, Sato N.
    Brain Dev; 2016 Jun; 38(6):571-80. PubMed ID: 26774704
    [Abstract] [Full Text] [Related]

  • 8. Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.
    Shimojima K, Inoue T, Imai Y, Arai Y, Komoike Y, Sugawara M, Fujita T, Ideguchi H, Yasumoto S, Kanno H, Hirose S, Yamamoto T.
    J Hum Genet; 2012 Sep; 57(9):580-6. PubMed ID: 22695888
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  • 14. Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease.
    Xie H, Feng H, Ji J, Wu Y, Kou L, Li D, Ji H, Wu X, Niu Z, Wang J, Jiang Y.
    Brain Dev; 2015 Sep; 37(8):797-802. PubMed ID: 25491635
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  • 17. 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
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  • 19. Neurogenetics of Pelizaeus-Merzbacher disease.
    Osório MJ, Goldman SA.
    Handb Clin Neurol; 2018 Apr; 148():701-722. PubMed ID: 29478609
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  • 20. The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.
    Woodward KJ.
    Expert Rev Mol Med; 2008 May 19; 10():e14. PubMed ID: 18485258
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