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Journal Abstract Search

229 related items for PubMed ID: 11071483

  • 1. 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
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  • 2. 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 24; 9(2):125-9. PubMed ID: 11786921
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  • 3. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.
    Cailloux F, Gauthier-Barichard F, Mimault C, Isabelle V, Courtois V, Giraud G, Dastugue B, Boespflug-Tanguy O.
    Eur J Hum Genet; 2000 Nov 24; 8(11):837-45. PubMed ID: 11093273
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  • 4. 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 Nov 24; 17(4):293-300. PubMed ID: 24519770
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  • 7. 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 24; 29(8):1028-36. PubMed ID: 18470932
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  • 9. A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease.
    Fukumura S, Adachi N, Nagao M, Tsutsumi H.
    Brain Dev; 2011 Sep 24; 33(8):697-9. PubMed ID: 21177054
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  • 10. 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 24; 50(6):1749-54. PubMed ID: 9633722
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  • 11. 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 24; 1792(6):548-54. PubMed ID: 19376225
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  • 12. 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 24; 31(3):248-51. PubMed ID: 18783902
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  • 13. Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.
    Hodes ME, Woodward K, Spinner NB, Emanuel BS, Enrico-Simon A, Kamholz J, Stambolian D, Zackai EH, Pratt VM, Thomas IT, Crandall K, Dlouhy SR, Malcolm S.
    Am J Hum Genet; 2000 Jul 24; 67(1):14-22. PubMed ID: 10827108
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  • 14. Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.
    Cambi F, Tang XM, Cordray P, Fain PR, Keppen LD, Barker DF.
    Neurology; 1996 Apr 24; 46(4):1112-7. PubMed ID: 8780101
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  • 15. 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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  • 16. 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 15; 17(2):152. PubMed ID: 11180600
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  • 18. Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease.
    Carango P, Funanage VL, Quirós RE, Debruyn CS, Marks HG.
    Ann Neurol; 1995 Oct 15; 38(4):610-7. PubMed ID: 7574457
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  • 19. Pelizaeus-Merzbacher disease: a frameshift deletion/insertion event in the myelin proteolipid gene.
    Pham-Dinh D, Boespflug-Tanguy O, Mimault C, Cavagna A, Giraud G, Leberre G, Lemarec B, Dautigny A.
    Hum Mol Genet; 1993 Apr 15; 2(4):465-7. PubMed ID: 7684945
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  • 20. 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
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