참고문헌
- Woodward KJ. The molecular and cellular defects underlying Pelizaeus- Merzbacher disease. Expert Rev Mol Med 2008;10:e14.
- Golomb MR, Walsh LE, Carvalho KS, Christensen CK, DeMyer WE. Clinical findings in Pelizaeus-Merzbacher disease. J Child Neurol 2004;19:328-31.
- Hodes ME, Pratt VM, Dlouhy SR. Genetics of Pelizaeus-Merzbacher disease. Dev Neurosci 1993;15:383-94.
- Pizzini F, Fatemi AS, Barker PB, Nagae-Poetscher LM, Horska A, Zimmerman AW, et al. Proton MR spectroscopic imaging in Pelizaeus- Merzbacher disease. AJNR Am J Neuroradiol 2003;24:1683-9.
- Takanashi J, Sugita K, Osaka H, Ishii M, Niimi H. Proton MR spectroscopy in Pelizaeus-Merzbacher disease. AJNR Am J Neuroradiol 1997;18:533-5.
- Sener RN. Pelizaeus-Merzbacher disease: diffusion MR imaging and proton MR spectroscopy findings. J Neuroradiol 2004;31:138-41.
- Howe FA, Maxwell RJ, Saunders DE, Brown MM, Griffiths JR. Proton spectroscopy in vivo. Magn Reson Q 1993;9:31-59.
- Grodd W, Krageloh-Mann I, Klose U, Sauter R. Metabolic and destructive brain disorders in children: findings with localized proton MR spectroscopy. Radiology 1991;181:173-81.
- Inoue K. PLP1 -related inherited dysmyelinating disorders: Pelizaeus- Merzbacher disease and spastic paraplegia type 2. Neurogenetics 2005;6:1-16.
- Warshawsky I, Chernova OB, Hubner CA, Stindl R, Henneke M, Gal A, et al. Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease. Clin Chem 2006;52:1267-75.
- Miller E, Widjaja E, Nilsson D, Yoon G, Banwell B, Blaser S. Magnetic resonance imaging of a unique mutation in a family with Pelizaeus- Merzbacher disease. Am J Med Genet A 2010;152A:748-52.
- Kolodziejczyk K, Hamilton NB, Wade A, Karadottir R, Attwell D. The effect of N-acetyl-aspartyl-glutamate and N-acetyl-aspartate on white matter oligodendrocytes. Brain 2009;132:1496-508.
- Takanashi J, Inoue K, Tomita M, Kurihara A, Morita F, Ikehira H, et al. Brain N-acetylaspartate is elevated in Pelizaeus-Merzbacher disease with PLP1 duplication. Neurology 2002;58:237-41.
- Kim SJ, Yoon JS, Baek HJ, Suh SI, Bae SY, Cho HJ, et al. 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. J Korean Med Sci 2008;23:328-31.
- Lee ES, Moon HK, Park YH, Garbern J, Hobson GM. A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene. J Neurol Sci 2004;224:83-7.
- Kim SM, Lee BC, Kwon KH, Kim SY, Yoo KH, Jung S, et al. Pelizaeus- Merzbacher disease: two cases in a family diagnosed by the clinical features and magnetic resonance imaging. J Korean Neurol Assoc 1995;13:115-22.
- Kang HS, Oh SW, Park YW, Lee CG, Kim SW, Lee GJ. Two cases of Pelizaeus-Merzbacher disease. J Korean Pediatr Soc 2000;43:561-6.
- Seitelberger F. Neuropathology and genetics of Pelizaeus-Merzbacher disease. Brain Pathol 1995;5:267-73.
- Urenjak J, Williams SR, Gadian DG, Noble M. Proton nuclear magnetic resonance spectroscopy unambiguously identifies different neural cell types. J Neurosci 1993;13:981-9.
- Spalice A, Popolizio T, Parisi P, Scarabino T, Iannetti P. Proton MR spectroscopy in connatal Pelizaeus-Merzbacher disease. Pediatr Radiol 2000;30:171-5.
피인용 문헌
- Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease vol.49, pp.2, 2012, https://doi.org/10.25100/cm.v49i2.2522