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Journal Abstract Search

202 related items for PubMed ID: 18094336

  • 1. 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]

  • 2. 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]

  • 3. GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.
    Bugiani M, Al Shahwan S, Lamantea E, Bizzi A, Bakhsh E, Moroni I, Balestrini MR, Uziel G, Zeviani M.
    Neurology; 2006 Jul 25; 67(2):273-9. PubMed ID: 16707726
    [Abstract] [Full Text] [Related]

  • 4. 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 25; 32(3):236-43. PubMed ID: 19423250
    [Abstract] [Full Text] [Related]

  • 5. PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.
    Bonnet-Dupeyron MN, Combes P, Santander P, Cailloux F, Boespflug-Tanguy O, Vaurs-Barrière C.
    Hum Mutat; 2008 Aug 25; 29(8):1028-36. PubMed ID: 18470932
    [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 25; 32(3):171-9. PubMed ID: 19328639
    [Abstract] [Full Text] [Related]

  • 7. Pelizaeus-Merzbacher disease: pathogenic mechanisms and insights into the roles of proteolipid protein 1 in the nervous system.
    Garbern JY.
    J Neurol Sci; 2005 Feb 15; 228(2):201-3. PubMed ID: 15694206
    [No 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 15; 34(3):127-36. PubMed ID: 12910435
    [Abstract] [Full Text] [Related]

  • 9. High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
    Bilir B, Yapici Z, Yalcinkaya C, Baris I, Carvalho CM, Bartnik M, Ozes B, Eraksoy M, Lupski JR, Battaloglu E.
    Clin Genet; 2013 Jan 15; 83(1):66-72. PubMed ID: 22283455
    [Abstract] [Full Text] [Related]

  • 10. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
    Uhlenberg B, Schuelke M, Rüschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloğlu H, Nürnberg P, Hübner C, Weschke B, Gärtner J.
    Am J Hum Genet; 2004 Aug 15; 75(2):251-60. PubMed ID: 15192806
    [Abstract] [Full Text] [Related]

  • 11. Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease.
    Ruf N, Uhlenberg B.
    Am J Med Genet B Neuropsychiatr Genet; 2009 Mar 05; 150B(2):226-32. PubMed ID: 18521858
    [Abstract] [Full Text] [Related]

  • 12. A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.
    Salviati L, Trevisson E, Baldoin MC, Toldo I, Sartori S, Calderone M, Tenconi R, Laverda A.
    Neurogenetics; 2007 Jan 05; 8(1):57-60. PubMed ID: 17031678
    [Abstract] [Full Text] [Related]

  • 13. 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 Jan 05; 17(4):293-300. PubMed ID: 24519770
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.
    Osaka H, Hamanoue H, Yamamoto R, Nezu A, Sasaki M, Saitsu H, Kurosawa K, Shimbo H, Matsumoto N, Inoue K.
    Ann Neurol; 2010 Aug 15; 68(2):250-4. PubMed ID: 20695017
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 9(2):125-9. PubMed ID: 11786921
    [Abstract] [Full Text] [Related]

  • 17. Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.
    Wang JM, Wu Y, Wang HF, Deng YH, Yang YL, Qin J, Li XY, Wu XR, Jiang YW.
    Chin Med J (Engl); 2008 Sep 05; 121(17):1638-42. PubMed ID: 19024090
    [Abstract] [Full Text] [Related]

  • 18. 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 05; 128(Pt 4):743-51. PubMed ID: 15689360
    [Abstract] [Full Text] [Related]

  • 19. 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 05; 65(1):114-8. PubMed ID: 19194886
    [Abstract] [Full Text] [Related]

  • 20. Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease.
    Orthmann-Murphy JL, Enriquez AD, Abrams CK, Scherer SS.
    Mol Cell Neurosci; 2007 Apr 05; 34(4):629-41. PubMed ID: 17344063
    [Abstract] [Full Text] [Related]

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