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Journal Abstract Search

146 related items for PubMed ID: 11536268

  • 21. [Clinical and genetic analysis of a family with Pelizaeus-Merzbacher disease].
    Wang HF, Wu Y, Jiang YW, Wang JM, Tang MK, Zhang YH, Qin J, Lin Q, Wu XR.
    Zhonghua Er Ke Za Zhi; 2007 Dec; 45(12):912-6. PubMed ID: 18339279
    [Abstract] [Full Text] [Related]

  • 22. [Clinical symptoms and characteristic MR spectroscopic findings in Pelizaeus-Merzbacher disease].
    Kurata K, Itoh M, Uchiyama A, Kurano N, Kumada S, Komine M, Tanuma N, Tomita S, Matsui R.
    No To Hattatsu; 2000 Nov; 32(6):503-8. PubMed ID: 11144164
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  • 23. Pelizaeus-Merzbacher disease: on the cusp of myelin medicine.
    Elitt MS, Tesar PJ.
    Trends Mol Med; 2024 May; 30(5):459-470. PubMed ID: 38582621
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  • 25. 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; 1792(6):548-54. PubMed ID: 19376225
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  • 27. Two autopsy cases with Pelizaeus-Merzbacher disease phenotype of adult onset, without mutation of proteolipid protein gene.
    Sasaki A, Miyanaga K, Ototsuji M, Iwaki A, Iwaki T, Takahashi S, Nakazato Y.
    Acta Neuropathol; 2000 Jan; 99(1):7-13. PubMed ID: 10651021
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  • 28. Pelizaeus-Merzbacher disease.
    Koeppen AH, Robitaille Y.
    J Neuropathol Exp Neurol; 2002 Sep; 61(9):747-59. PubMed ID: 12230321
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  • 29. Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.
    Sistermans EA, de Coo RF, De Wijs IJ, Van Oost BA.
    Neurology; 1998 Jun; 50(6):1749-54. PubMed ID: 9633722
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  • 31. 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 Jun; 17(4):293-300. PubMed ID: 24519770
    [Abstract] [Full Text] [Related]

  • 32. 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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  • 34. Pelizaeus-Merzbacher disease, easily misdiagnosed as cerebral palsy: a report of a three-generation family.
    Chen YC, Liang WC, Su YN, Jong YJ.
    Pediatr Neonatol; 2014 Apr; 55(2):150-3. PubMed ID: 23597542
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  • 36. PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl.
    Fonseca AC, Bonaldi A, Costa SS, Freitas MR, Kok F, Vianna-Morgante AM.
    Clin Genet; 2013 Feb; 83(2):169-74. PubMed ID: 22320281
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  • 37. Patient-derived iPS cells for unveiling the molecular pathology of Pelizaeus-Merzbacher disease: a commentary on 'Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication'.
    Inoue K.
    J Hum Genet; 2012 Sep; 57(9):553-4. PubMed ID: 22786577
    [No Abstract] [Full Text] [Related]

  • 38. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.
    Inoue K.
    Neurogenetics; 2005 Feb; 6(1):1-16. PubMed ID: 15627202
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  • 39. Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
    Masliah-Planchon J, Dupont C, Vartzelis G, Trimouille A, Eymard-Pierre E, Gay-Bellile M, Renaldo F, Dorboz I, Pagan C, Quentin S, Elmaleh M, Kotsogianni C, Konstantelou E, Drunat S, Tabet AC, Boespflug-Tanguy O.
    BMC Med Genet; 2015 Sep 02; 16():77. PubMed ID: 26329556
    [Abstract] [Full Text] [Related]

  • 40. Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.
    Hurst S, Garbern J, Trepanier A, Gow A.
    Genet Med; 2006 Jun 02; 8(6):371-8. PubMed ID: 16778599
    [Abstract] [Full Text] [Related]

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