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1. Lupski JR. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 1998;14:417-422.

2. Chance PF, Abbas N, Lensch MW, et al. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 1994;3:223-228.

3. Ellis D, Malcolm S. Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease. Nat Genet 1994;6:333-334.

4. Inoue K, Osaka H, Imaizumi K, et al. Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations. Ann Neurol 1999;45:624-632.

5. Inoue K, Osaka H, Sugiyama N, et al. A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. Am J Hum Genet 1996;59:32-39.

6. Inoue K, Osaka H, Thurston VC, et al. Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end-joining and cause different dysmyelinating phenotypes in males and females. Am J Hum Genet 2002;71:838-853.

7. Raskind WH, Williams CA, Hudson LD, Bird TD. Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. Am J Hum Genet 1991;49:1355-1360.

8. Cremers FPM, Pfeiffer RA, van de Pol TJR, et al. An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region. Human Genetics 1987;77:23-27.

9. Woodward K, Kendall E, Vetrie D, Malcolm S. Pelizaeus-Merzbacher disease: identification of Xq22 proteo-lipid-protein duplications and characterization of breakpoints by interphase FISH. Am J Hum Genet 1998;63:207-217.

10. Hudson LD. Pelizaeus-Merzbacher disease and the allelic disorder X-linked spastic paraplegia type 2. In: The Metabolic and Molecular Bases of Inherited Diseases. 8th ed. (Scriver CR, Beaudet AL, Sly WS, Valle D, eds.), New York: McGraw-Hill, 2001; pp 5789-5798.

11. Inoue K. PLP1 -related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 2005;6:1-16.

12. Hodes ME, Pratt VM, Dlouhy SR. Genetics of Pelizaeus-Merzbacher disease. Dev Neurosci 1993;15:383-394.

13. Garbern J, Cambi F, Shy M, Kamholz J. The molecular pathogenesis of Pelizaeus-Merzbacher disease. Arch Neurol 1999;56:1210-1214.

14. Saugier-Veber P, Munnich A, Bonneau D, et al. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet 1994;6:257-262.

15. Osaka H, Kawanishi C, Inoue K, et al. Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males. Biochem Biophys Res Commun 1995;215:835-841.

16. Nave KA, Lai C, Bloom FE, Milner RJ. Splice site selection in the proteolipid protein (PLP) gene transcript and primary structure of the DM-20 protein of central nervous system myelin. Proc Natl Acad Sci USA 1987;84:5665-5669.

17. Maier M, Berger P, Nave KA, Suter U. Identification of the regulatory region of the peripheral myelin protein 22 (PMP22) gene that directs temporal and spatial expression in development and regeneration of peripheral nerves. Mol Cell Neurosci 2002;20:93-109.

18. Suter U, Snipes GJ, Schoener-Scott R, et al. Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. J Biol Chem 1994;269:25,795-25,808.

19. Lupski JR, Garcia CA. Charcot-Marie-Tooth peripheral neuropathies and related disorders. In: The Metabolic and Molecular Bases of Inherited Diseases. 8th ed. (Scriver CR, Beaudet AL, Sly WS, Valle D, eds.), New York: McGraw-Hill, 2001; pp 5759-5788.

20. Gow A, Lazzarini RA. A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease. Nat Genet 1996;13:422-428.

21. Gow A, Southwood CM, Lazzarini RA. Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus-Merzbacher disease. J Cell Biol 1998;140:925-934.

22. D'Urso D, Prior R, Greiner-Petter R, Gabreels-Festen AA, Müller HW. Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22. J Neurosci 1998;18:731-740.

23. Dickson KM, Bergeron JJ, Shames I, et al. Association of calnexin with mutant peripheral myelin protein-22 ex vivo: a basis for "gain-of-function" ER diseases. Proc Natl Acad Sci USA 2002;99:9852-9857.

24. Swanton E, High S, Woodman P. Role of calnexin in the glycan-independent quality control of proteolipid protein. EMBO J 2003;22:2948-2958.

25. Southwood CM, Garbern J, Jiang W, Gow A. The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease. Neuron 2002;36:585-596.

26. Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991;66:219-232.

27. LeGuern E, Gouider R, Mabin D, et al. Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease. Ann Neurol 1997;41:104-108.

28. Readhead C, Schneider A, Griffiths I, Nave KA. Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage. Neuron 1994;12:583-595.

29. Kagawa T, Ikenaka K, Inoue Y, et al. Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene. Neuron 1994;13:427-442.

30. Inoue Y, Kagawa T, Matsumura Y, Ikenaka K, Mikoshiba K. Cell death of oligodendrocytes or demyelination induced by overexpression of proteolipid protein depending on expressed gene dosage. Neurosci Res 1996;25:161-172.

31. Anderson TJ, Schneider A, Barrie JA, et al. Late-onset neurodegeneration in mice with increased dosage of the proteolipid protein gene. J Comp Neurol 1998;394:506-519.

32. Huxley C, Passage E, Robertson AM, et al. Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice. Hum Mol Genet 1998;7:449-458.

33. Klugmann M, Schwab MH, Puhlhofer A, et al. Assembly of CNS myelin in the absence of proteolipid protein. Neuron 1997;18:59-70.

34. Griffiths I, Klugmann M, Anderson T, et al. Axonal swellings and degeneration in mice lacking the major proteolipid of myelin. Science 1998;280:1610-1613.

35. Chance PF, Alderson MK, Leppig KA, et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993;72:143-151.

36. Adlkofer K, Frei R, Neuberg DH, Zielasek J, Toyka KV, Suter U. Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy. J Neurosci 1997;17: 4662-4671.

37. Adlkofer K, Martini R, Aguzzi A, Zielasek J, Toyka KV, and Suter U. Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice. Nat Genet 1995;11:274-280.

38. Niemann S, Sereda MW, Suter U, Griffiths IR, Nave KA. Uncoupling of myelin assembly and schwann cell differentiation by transgenic overexpression of peripheral myelin protein 22. J Neurosci 2000;20:4120-4128.

39. Chies R, Nobbio L, Edomi P, Schenone A, Schneider C, Brancolini C. Alterations in the Arf6-regulated plasma membrane endosomal recycling pathway in cells overexpressing the tetraspan protein Gas3/PMP22. J Cell Sci 2003;116:987-999.

40. Ryan MC, Shooter EM, Notterpek L. Aggresome formation in neuropathy models based on peripheral myelin protein 22 mutations. Neurobiol Dis 2002;10:109-118.

41. Simons M, Kramer EM, Macchi P, et al. Overexpression of the myelin proteolipid protein leads to accumulation of cholesterol and proteolipid protein in endosomes/lysosomes: implications for Pelizaeus-Merzbacher disease. J Cell Biol 2002;157:327-336.

42. Simons M, Kramer EM, Thiele C, Stoffel W, Trotter J. Assembly of myelin by association of proteolipid protein with cholesterol- and galactosylceramide-rich membrane domains. J Cell Biol 2000;151:143-154.

43. Inoue K, Kanai M, Tanabe Y, et al. Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease. Prenat Diagn 200121:1133-1136.

44. Hodes ME, Woodward K, Spinner NB, et al. Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome. Am J Hum Genet 2000;67:14-22.

45. Regis S, Filocamo M, Mazzotti R, et al. Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR. Prenat Diagn 2001;21: 668-671.

46. Mimault C, Giraud G, Courtois V, et al. and The Clinical European Network on Brain Dysmyelinating Disease. Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. Am J Hum Genet 1999;65:360-369.

47. Shaw CJ, Shaw CA, Yu W, et al. Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders. J Med Genet 2004;41:113-119.

48. Albertson DG, Pinkel D. Genomic microarrays in human genetic disease and cancer. Hum Mol Genet 2003;12:R145-R152.

49. Mantripragada KK, Buckley PG, de Stahl TD, Dumanski JP. Genomic microarrays in the spotlight. Trends Genet 2004;20:87-94.

50. Inoue K, Lupski JR. Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet 2002;3:199-242.

51. Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet 1992;2:292-300.

52. Inoue K, Dewar K, Katsanis N, et al. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res 2001;11:1018-1033.

53. Stankiewicz P, Lupski JR. Genome architecture, rearrangements and genomic disorders. Trends Genet 2002;18:74-82.

54. Lee J, Dean M, Gold B, Inoue K, Lupski JR. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. American Society of Human Genetics, 54th Annual Meeting. Toronto, 2004; pp A103.

55. Hobson G, Cundall M, Sperle K, et al. Fine mapping of duplication endpoints in Pelizaeus-Merzbacher disease. American Society of Human Genetics, 53rd Annual Meeting. Los Angels, 2003; pp A1009.

56. Iwaki A, Kondo J, Ototsuji M, Kurosawa K, Fukumaki Y. Characterization of the breakpoints of PLP1 duplication in three cases of Pelizaeus-Merzbacher disease. American Society of Human Genetics, 53rd Annual Meeting. Los Angels, 2003; pp A2229.

57. Shaw CJ, Lupski JR. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 2004;13:R57-R64.

58. Heim P, Claussen M, Hoffmann B, et al. Leukodystrophy incidence in Germany. Am J Med Genet 1997;71: 475-478.

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