BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

159 related articles for article (PubMed ID: 11805250)

  • 1. Brain N-acetylaspartate is elevated in Pelizaeus-Merzbacher disease with PLP1 duplication.
    Takanashi J; Inoue K; Tomita M; Kurihara A; Morita F; Ikehira H; Tanada S; Yoshitome E; Kohno Y
    Neurology; 2002 Jan; 58(2):237-41. PubMed ID: 11805250
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Quantitative proton MRS of Pelizaeus-Merzbacher disease: evidence of dys- and hypomyelination.
    Hanefeld FA; Brockmann K; Pouwels PJ; Wilken B; Frahm J; Dechent P
    Neurology; 2005 Sep; 65(5):701-6. PubMed ID: 16157902
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease.
    Pizzini F; Fatemi AS; Barker PB; Nagae-Poetscher LM; Horská A; Zimmerman AW; Moser HW; Bibat G; Naidu S
    AJNR Am J Neuroradiol; 2003 Sep; 24(8):1683-9. PubMed ID: 13679292
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.
    Garbern JY; Yool DA; Moore GJ; Wilds IB; Faulk MW; Klugmann M; Nave KA; Sistermans EA; van der Knaap MS; Bird TD; Shy ME; Kamholz JA; Griffiths IR
    Brain; 2002 Mar; 125(Pt 3):551-61. PubMed ID: 11872612
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.
    Shimojima K; Inoue T; Imai Y; Arai Y; Komoike Y; Sugawara M; Fujita T; Ideguchi H; Yasumoto S; Kanno H; Hirose S; Yamamoto T
    J Hum Genet; 2012 Sep; 57(9):580-6. PubMed ID: 22695888
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 17(4):293-300. PubMed ID: 24519770
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 32(3):171-9. PubMed ID: 19328639
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 121(17):1638-42. PubMed ID: 19024090
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.
    Woodward KJ
    Expert Rev Mol Med; 2008 May; 10():e14. PubMed ID: 18485258
    [TBL] [Abstract][Full Text] [Related]  

  • 11. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.
    Inoue K
    Neurogenetics; 2005 Feb; 6(1):1-16. PubMed ID: 15627202
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Clinical symptoms and characteristic MR spectroscopic findings in Pelizaeus-Merzbacher disease].
    Kurata K; Itoh M; Uchiyama A; Kurano N; Kumada S; Komine M; Tanuma N; Tomita S; Matsui R
    No To Hattatsu; 2000 Nov; 32(6):503-8. PubMed ID: 11144164
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pelizaeus-Merzbacher disease as a chromosomal disorder.
    Yamamoto T; Shimojima K
    Congenit Anom (Kyoto); 2013 Mar; 53(1):3-8. PubMed ID: 23480352
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Increased N-acetylaspartate in model mouse of Pelizaeus-Merzbacher disease.
    Takanashi J; Saito S; Aoki I; Barkovich AJ; Ito Y; Inoue K
    J Magn Reson Imaging; 2012 Feb; 35(2):418-25. PubMed ID: 22379616
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1.
    Sima AA; Pierson CR; Woltjer RL; Hobson GM; Golden JA; Kupsky WJ; Schauer GM; Bird TD; Skoff RP; Garbern JY
    Acta Neuropathol; 2009 Oct; 118(4):531-9. PubMed ID: 19562355
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Age-related changes in a patient with Pelizaeus-Merzbacher disease determined by repeated 1H-magnetic resonance spectroscopy.
    Mori T; Mori K; Ito H; Goji A; Miyazaki M; Harada M; Kurosawa K; Kagami S
    J Child Neurol; 2014 Feb; 29(2):283-8. PubMed ID: 24056155
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 16():77. PubMed ID: 26329556
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 224(1-2):83-7. PubMed ID: 15450775
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype.
    Hoffman-Zacharska D; Kmieć T; Poznański J; Jurek M; Bal J
    Brain Dev; 2013 Oct; 35(9):877-80. PubMed ID: 23245814
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.