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Journal Abstract Search

137 related items for PubMed ID: 16802726

  • 1. N-acetylaspartylglutamate (NAAG) in Pelizaeus-Merzbacher disease.
    Burlina AP, Ferrari V, Burlina AB, Ermani M, Boespflug-Tanguy O, Bertini E, Clinical European Network on Brain Dysmyelinating Disease.
    Adv Exp Med Biol; 2006; 576():353-9; discussion 361-3. PubMed ID: 16802726
    [No Abstract] [Full Text] [Related]

  • 2. Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene.
    Sartori S, Burlina AB, Salviati L, Trevisson E, Toldo I, Laverda AM, Burlina AP.
    Eur J Paediatr Neurol; 2008 Jul; 12(4):348-50. PubMed ID: 17881259
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  • 3. Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases.
    Mochel F, Boildieu N, Barritault J, Sarret C, Eymard-Pierre E, Seguin F, Schiffmann R, Boespflug-Tanguy O.
    Biochim Biophys Acta; 2010 Nov; 1802(11):1112-7. PubMed ID: 20637281
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  • 7. GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
    Henneke M, Combes P, Diekmann S, Bertini E, Brockmann K, Burlina AP, Kaiser J, Ohlenbusch A, Plecko B, Rodriguez D, Boespflug-Tanguy O, Gärtner J.
    Neurology; 2008 Mar 04; 70(10):748-54. PubMed ID: 18094336
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  • 8. [Pelizaeus-Merzbacher disease(PMD)/spastic paraplegia 2(SPG2)].
    Eto Y.
    Ryoikibetsu Shokogun Shirizu; 2000 Mar 04; (29 Pt 4):536-7. PubMed ID: 11032015
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  • 9. Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease.
    Laššuthová P, Žaliová M, Inoue K, Haberlová J, Sixtová K, Sakmaryová I, Paděrová K, Mazanec R, Zámečník J, Šišková D, Garbern J, Seeman P.
    J Child Neurol; 2014 Jul 04; 29(7):924-31. PubMed ID: 23771846
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  • 10. [Effects on oligodendrocytic function resulting from proteolipid protein 1 gene mutations].
    Wang JM, Jiang YW, Wu XR.
    Sheng Li Ke Xue Jin Zhan; 2012 Aug 04; 43(4):271-4. PubMed ID: 23189621
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  • 16. A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.
    Shiihara T, Watanabe M, Moriyama K, Uematsu M, Sameshima K.
    Brain Dev; 2015 Apr 04; 37(4):455-8. PubMed ID: 25043250
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  • 18. Prenatal diagnosis of Pelizaeus-Merzbacher disease.
    Garbern J, Hobson G.
    Prenat Diagn; 2002 Nov 04; 22(11):1033-5. PubMed ID: 12424770
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