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2012
Y. Lv, Cao, L. H., Pang, H., Lu, L. N., Li, J. L., Fu, Y., Qi, S. L., Luo, Y., and Li-Ling, J., Combined genetic and imaging diagnosis for two large Chinese families affected with Pelizaeus-Merzbacher disease, vol. 11, pp. 2035-2044, 2012.
Bonnet-Dupeyron MN, Combes P, Santander P, Cailloux F, et al. (2008). PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations. Hum. Mutat. 29: 1028-1036. http://dx.doi.org/10.1002/humu.20758 PMid:18470932   Edgar JM, McLaughlin M, Barrie JA, McCulloch MC, et al. (2004). Age-related axonal and myelin changes in the rumpshaker mutation of the PLP gene. Acta Neuropathol. 107: 331-335. http://dx.doi.org/10.1007/s00401-003-0808-9 PMid:14745569   Inoue K (2005). PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 6: 1-16. http://dx.doi.org/10.1007/s10048-004-0207-y PMid:15627202   Inoue K, Kanai M, Tanabe Y, Kubota T, et al. (2001). Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease. Prenat. Diagn. 21: 1133-1136. http://dx.doi.org/10.1002/pd.186 PMid:11787038   Inoue K, Osaka H, Thurston VC, Clarke JT, et al. (2002). Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am. J. Hum. Genet. 71: 838-853. http://dx.doi.org/10.1086/342728 PMid:12297985 PMCid:378540   Krämer-Albers EM, Gehrig-Burger K, Thiele C, Trotter J, et al. (2006). Perturbed interactions of mutant proteolipid protein/DM20 with cholesterol and lipid rafts in oligodendroglia: implications for dysmyelination in spastic paraplegia. J. Neurosci. 26: 11743-11752. http://dx.doi.org/10.1523/JNEUROSCI.3581-06.2006 PMid:17093095   Mattei MG, Alliel PM, Dautigny A, Passage E, et al. (1986). The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome. Hum. Genet. 72: 352-353. http://dx.doi.org/10.1007/BF00290964 PMid:3457761   Willard HF and Riordan JR (1985). Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders. Science 230: 940-942. http://dx.doi.org/10.1126/science.3840606 PMid:3840606