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PUBMED FOR HANDHELDS

Journal Abstract Search

392 related items for PubMed ID: 11180600

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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; 128(Pt 4):743-51. PubMed ID: 15689360
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  • 11. Pelizaeus-Merzbacher disease as a chromosomal disorder.
    Yamamoto T, Shimojima K.
    Congenit Anom (Kyoto); 2013 Mar; 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; 55(6-7):400-3. PubMed ID: 22490426
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  • 16. Classic Pelizaeus-Merzbacher disease in a girl with an unbalanced chromosomal translocation and functional duplication of PLP1.
    Yiu EM, Farrell SA, Soman T.
    Mov Disord; 2009 Oct 30; 24(14):2171-2. PubMed ID: 19705472
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  • 18. 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 30; 33(8):697-9. PubMed ID: 21177054
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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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