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Journal Abstract Search

327 related items for PubMed ID: 21177054

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation.
    Warshawsky I, Rudick RA, Staugaitis SM, Natowicz MR.
    Ann Neurol; 2005 Sep; 58(3):470-3. PubMed ID: 16130097
    [Abstract] [Full Text] [Related]

  • 23. Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease.
    Hodes ME, Blank CA, Pratt VM, Morales J, Napier J, Dlouhy SR.
    Am J Med Genet; 1997 Mar 17; 69(2):121-5. PubMed ID: 9056547
    [Abstract] [Full Text] [Related]

  • 24. Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA.
    Hübner CA, Senning A, Orth U, Zerres K, Urbach H, Gal A, Rudnik-Schöneborn S.
    Neuroscience; 2005 Mar 17; 132(3):697-701. PubMed ID: 15837131
    [Abstract] [Full Text] [Related]

  • 25. 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 17; 57(9):580-6. PubMed ID: 22695888
    [Abstract] [Full Text] [Related]

  • 26. PLP1 gene analysis in 88 patients with leukodystrophy.
    Martínez-Montero P, Muñoz-Calero M, Vallespín E, Campistol J, Martorell L, Ruiz-Falcó MJ, Santana A, Pons R, Dinopoulos A, Sierra C, Nevado J, Molano J.
    Clin Genet; 2013 Dec 17; 84(6):566-71. PubMed ID: 23347225
    [Abstract] [Full Text] [Related]

  • 27. PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report.
    Mądry J, Hoffman-Zacharska D, Królicki L, Jakuciński M, Friedman A.
    Neurol Neurochir Pol; 2010 Dec 17; 44(5):511-5. PubMed ID: 21082496
    [Abstract] [Full Text] [Related]

  • 28. Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
    Hobson GM, Davis AP, Stowell NC, Kolodny EH, Sistermans EA, de Coo IF, Funanage VL, Marks HG.
    Neurology; 2000 Oct 24; 55(8):1089-96. PubMed ID: 11071483
    [Abstract] [Full Text] [Related]

  • 29. Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.
    Hübner CA, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.
    Hum Mutat; 2005 Mar 24; 25(3):321-2. PubMed ID: 15712223
    [Abstract] [Full Text] [Related]

  • 30. Diffusion tensor imaging of patients with proteolipid protein 1 gene mutations.
    Laukka JJ, Makki MI, Lafleur T, Stanley J, Kamholz J, Garbern JY.
    J Neurosci Res; 2014 Dec 24; 92(12):1723-32. PubMed ID: 25156430
    [Abstract] [Full Text] [Related]

  • 31. Characterization of a PLP-overexpressing transgenic rat, a model for the connatal form of Pelizaeus-Merzbacher disease.
    Mayer JA, Larsen EC, Kondo Y, Duncan ID.
    Neurobiol Dis; 2011 Nov 24; 44(2):231-8. PubMed ID: 21784154
    [Abstract] [Full Text] [Related]

  • 32. Familial Pelizaeus-Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus.
    Kitsiou-Tzeli S, Konstantinidou A, Sofocleous C, Kosma K, Syrmou A, Giannikou K, Sifakis S, Makrythanasis P, Tzetis M.
    Birth Defects Res A Clin Mol Teratol; 2012 Jun 24; 94(6):494-8. PubMed ID: 22511562
    [Abstract] [Full Text] [Related]

  • 33. 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]

  • 34. 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 02; 39(3):271-274. PubMed ID: 27793435
    [Abstract] [Full Text] [Related]

  • 35. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.
    Inoue K.
    Neurogenetics; 2005 Feb 02; 6(1):1-16. PubMed ID: 15627202
    [Abstract] [Full Text] [Related]

  • 36. Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.
    Hobson GM, Garbern JY.
    Semin Neurol; 2012 Feb 02; 32(1):62-7. PubMed ID: 22422208
    [Abstract] [Full Text] [Related]

  • 37. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders.
    Lee JA, Carvalho CM, Lupski JR.
    Cell; 2007 Dec 28; 131(7):1235-47. PubMed ID: 18160035
    [Abstract] [Full Text] [Related]

  • 38. Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease.
    Laššuthová P, Žaliová M, Inoue K, Haberlová J, Sixtová K, Sakmaryová I, Paděrová K, Mazanec R, Zámečník J, Šišková D, Garbern J, Seeman P.
    J Child Neurol; 2014 Jul 28; 29(7):924-31. PubMed ID: 23771846
    [Abstract] [Full Text] [Related]

  • 39. 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 28; 55(4):341-51. PubMed ID: 17133418
    [Abstract] [Full Text] [Related]

  • 40. Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
    Lossos A, Elazar N, Lerer I, Schueler-Furman O, Fellig Y, Glick B, Zimmerman BE, Azulay H, Dotan S, Goldberg S, Gomori JM, Ponger P, Newman JP, Marreed H, Steck AJ, Schaeren-Wiemers N, Mor N, Harel M, Geiger T, Eshed-Eisenbach Y, Meiner V, Peles E.
    Brain; 2015 Sep 28; 138(Pt 9):2521-36. PubMed ID: 26179919
    [Abstract] [Full Text] [Related]

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