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Journal Abstract Search

212 related items for PubMed ID: 19194886

  • 1. Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
    Vaurs-Barrière C, Deville M, Sarret C, Giraud G, Des Portes V, Prats-Viñas JM, De Michele G, Dan B, Brady AF, Boespflug-Tanguy O, Touraine R.
    Ann Neurol; 2009 Jan; 65(1):114-8. PubMed ID: 19194886
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
    Henneke M, Combes P, Diekmann S, Bertini E, Brockmann K, Burlina AP, Kaiser J, Ohlenbusch A, Plecko B, Rodriguez D, Boespflug-Tanguy O, Gärtner J.
    Neurology; 2008 Mar 04; 70(10):748-54. PubMed ID: 18094336
    [Abstract] [Full Text] [Related]

  • 4. Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease.
    Henneke M, Gegner S, Hahn A, Plecko-Startinig B, Weschke B, Gärtner J, Brockmann K.
    Neurology; 2010 Jun 01; 74(22):1785-9. PubMed ID: 20513814
    [Abstract] [Full Text] [Related]

  • 5. 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 01; 9(2):125-9. PubMed ID: 11786921
    [Abstract] [Full Text] [Related]

  • 6. 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 01; 32(3):171-9. PubMed ID: 19328639
    [Abstract] [Full Text] [Related]

  • 7. [MCT8-specific thyroid hormone cell transporter deficiency: a case report and review of the literature].
    López-Marín L, Martín-Belinchón M, Gutiérrez-Solana LG, Morte-Molina B, Duat-Rodríguez A, Bernal J.
    Rev Neurol; 2013 Jun 16; 56(12):615-22. PubMed ID: 23744248
    [Abstract] [Full Text] [Related]

  • 8. Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype.
    Plecko B, Stöckler-Ipsiroglu S, Gruber S, Mlynarik V, Moser E, Simbrunner J, Ebner F, Bernert G, Harrer G, Gal A, Prayer D.
    Neuropediatrics; 2003 Jun 16; 34(3):127-36. PubMed ID: 12910435
    [Abstract] [Full Text] [Related]

  • 9. MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
    Frints SG, Lenzner S, Bauters M, Jensen LR, Van Esch H, des Portes V, Moog U, Macville MV, van Roozendaal K, Schrander-Stumpel CT, Tzschach A, Marynen P, Fryns JP, Hamel B, van Bokhoven H, Chelly J, Beldjord C, Turner G, Gecz J, Moraine C, Raynaud M, Ropers HH, Froyen G, Kuss AW.
    Eur J Hum Genet; 2008 Sep 16; 16(9):1029-37. PubMed ID: 18398436
    [Abstract] [Full Text] [Related]

  • 10. 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 16; 31(3):248-51. PubMed ID: 18783902
    [Abstract] [Full Text] [Related]

  • 11. 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 16; 138(Pt 9):2521-36. PubMed ID: 26179919
    [Abstract] [Full Text] [Related]

  • 12. [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; 2015 Sep 16; 37(5):436-8. PubMed ID: 14533091
    [Abstract] [Full Text] [Related]

  • 13. 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 16; 32(9):703-7. PubMed ID: 20022439
    [Abstract] [Full Text] [Related]

  • 14. Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.
    Hobson GM, Garbern JY.
    Semin Neurol; 2012 Feb 16; 32(1):62-7. PubMed ID: 22422208
    [Abstract] [Full Text] [Related]

  • 15. Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease.
    Wang J, Wang H, Wang Y, Chen T, Wu X, Jiang Y.
    Brain Dev; 2010 Mar 16; 32(3):236-43. PubMed ID: 19423250
    [Abstract] [Full Text] [Related]

  • 16. 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 16; 132(3):697-701. PubMed ID: 15837131
    [Abstract] [Full Text] [Related]

  • 17. Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation.
    Fuchs O, Pfarr N, Pohlenz J, Schmidt H.
    Dev Med Child Neurol; 2009 Mar 16; 51(3):240-4. PubMed ID: 19018842
    [Abstract] [Full Text] [Related]

  • 18. 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 16; 29(7):924-31. PubMed ID: 23771846
    [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. 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 15; 37(4):455-8. PubMed ID: 25043250
    [Abstract] [Full Text] [Related]

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