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Journal Abstract Search

151 related items for PubMed ID: 16778599

  • 21. PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report.
    Mądry J, Hoffman-Zacharska D, Królicki L, Jakuciński M, Friedman A.
    Neurol Neurochir Pol; 2010; 44(5):511-5. PubMed ID: 21082496
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  • 22. 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; 29(8):1028-36. PubMed ID: 18470932
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  • 23. Duplication of proteolipid protein gene: a possible major cause of Pelizaeus-Merzbacher disease.
    Wang PJ, Hwu WL, Lee WT, Wang TR, Shen YZ.
    Pediatr Neurol; 1997 Sep; 17(2):125-8. PubMed ID: 9367291
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  • 24. Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.
    Grossi S, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A, Vaurs-Barrière C, Cooper DN, Filocamo M.
    Orphanet J Rare Dis; 2011 Jun 16; 6():40. PubMed ID: 21679407
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  • 30. 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 16; 128(Pt 4):743-51. PubMed ID: 15689360
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  • 31. Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease.
    Woodward K, Cundall M, Palmer R, Surtees R, Winter RM, Malcolm S.
    Am J Med Genet A; 2003 Apr 01; 118A(1):15-24. PubMed ID: 12605435
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  • 32. Identification of proteolipid protein 1 gene duplication by multiplex ligation-dependent probe amplification: first report of genetically confirmed family of Pelizaeus-Merzbacher disease in Korea.
    Kim SJ, Yoon JS, Baek HJ, Suh SI, Bae SY, Cho HJ, Ki CS.
    J Korean Med Sci; 2008 Apr 01; 23(2):328-31. PubMed ID: 18437021
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  • 34. Unusual clinical and magnetic resonance imaging findings in a family with proteolipid protein gene mutation.
    Battini R, Bianchi MC, Boespflug-Tanguy O, Tosetti M, Bonanni P, Canapicchi R, Cioni G.
    Arch Neurol; 2003 Feb 01; 60(2):268-72. PubMed ID: 12580714
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  • 35. 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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  • 36. A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding.
    Pavlidou E, Ramachandran V, Govender V, Wilson C, Das R, Vlachou V, Pavlou E, Saggar A, Mankad K, Kinali M.
    Brain Dev; 2017 Mar 15; 39(3):271-274. PubMed ID: 27793435
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  • 40. 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
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