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Journal Abstract Search

347 related items for PubMed ID: 11180600

  • 1. A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease.
    Hobson G, Stabley D, Funanage V, Marks H.
    Hum Mutat; 2001 Feb; 17(2):152. PubMed ID: 11180600
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  • 2. 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
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  • 3. 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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  • 4. 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 19; 128(Pt 4):743-51. PubMed ID: 15689360
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  • 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 19; 29(8):1028-36. PubMed ID: 18470932
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  • 6. 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
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  • 7. 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 15; 32(3):171-9. PubMed ID: 19328639
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  • 8. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
    Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR.
    Hum Mol Genet; 2006 Jul 15; 15(14):2250-65. PubMed ID: 16774974
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  • 11. Pelizaeus-Merzbacher disease as a chromosomal disorder.
    Yamamoto T, Shimojima K.
    Congenit Anom (Kyoto); 2013 Mar 15; 53(1):3-8. PubMed ID: 23480352
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  • 12. Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.
    Shimojima K, Mano T, Kashiwagi M, Tanabe T, Sugawara M, Okamoto N, Arai H, Yamamoto T.
    Eur J Med Genet; 2012 Jun 15; 55(6-7):400-3. PubMed ID: 22490426
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  • 13. Quantitative multiplex real-time PCR for detection of PLP1 gene duplications in Pelizaeus-Merzbacher patients.
    Mikesová E, Baránková L, Sakmaryová I, Tatarková I, Seeman P.
    Genet Test; 2006 Jun 15; 10(3):215-20. PubMed ID: 17020474
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  • 17. 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 15; 84(6):566-71. PubMed ID: 23347225
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  • 19. 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
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  • 20. 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 02; 9(2):125-9. PubMed ID: 11786921
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