| 1 | PLP1, PMDX
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| A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.
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| Shiihara T, Watanabe M, Moriyama K, Uematsu M, Sameshima K.
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| Brain Dev rain Dev. 2014 Jul 16. pii: S0387-7604(14)00159-4. doi: 10.1016/j.braindev.2014.06.011. [Epub ahead of print]
2014
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| 2 | PLP1, PMDX
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| Pelizaeus-Merzbacher disease: cellular pathogenesis and pharmacologic therapy.
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| Torii T, Miyamoto Y, Yamauchi J, Tanoue A.
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| Pediatr Int 56(5):659-66. doi: 10.1111/ped.12450.
2014
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| 3 | PLP1, PMDX
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| PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.
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| Taube JR, Sperle K, Banser L, Seeman P, Cavan BC, Garbern JY, Hobson GM.
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| Hum Mol Genet 23(20):5464-78. doi: 10.1093/hmg/ddu271. Epub 2014 Jun 1.
2014
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| 4 | PLP1, PMDX
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| Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation.
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| Regis S, Corsolini F, Grossi S, Tappino B, Cooper DN, Filocamo M.
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| PLoS One 8(9):e73633. doi: 10.1371/journal.pone.0073633. eCollection 2013.
2013
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| 5 | PLP1, PMDX
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| Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.
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| Shimojima K, Inoue T, Imai Y, Arai Y, Komoike Y, Sugawara M, Fujita T, Ideguchi H, Yasumoto S, Kanno H, Hirose S, Yamamoto T.
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| J Hum Genet 57(9):580-6. doi: 10.1038/jhg.2012.71. Epub 2012 Jun 14.
2012
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| 6 | PLP1, PMDX
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| A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease.
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| Fukumura S, Adachi N, Nagao M, Tsutsumi H.
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| Brain Dev 33(8):697-9. Epub 2010 Dec 21.
2011
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| 7 | PLP1, PMDX
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| Misalignment of PLP/DM20 transmembrane domains determines protein misfolding in Pelizaeus-Merzbacher disease.
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| Dhaunchak AS, Colman DR, Nave KA.
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| J Neurosci 31(42):14961-71.
2011
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| 8 | PLP1, PMDX
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| PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report.
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| Mądry J, Hoffman-Zacharska D, Królicki L, Jakuciński M, Friedman A.
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| Neurol Neurochir Pol 44(5):511-5.
2010
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| 9 | PLP1, PMDX
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| Magnetic resonance imaging of a unique mutation in a family with Pelizaeus-Merzbacher disease.
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| Miller E, Widjaja E, Nilsson D, Yoon G, Banwell B, Blaser S.
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| Am J Med Genet A 152A(3):748-52.
2010
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| 10 | PLP1, PMDX
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| Arena syndrome is caused by a missense mutation in PLP1.
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| Stevenson RE, Tarpey P, May MM, Stratton MR, Schwartz CE.
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| Am J Med Genet A 149A(5):1081. No abstract available.
2009
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| 11 | PLP1, PMDX
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| Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1.
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| Sima AA, Pierson CR, Woltjer RL, Hobson GM, Golden JA, Kupsky WJ, Schauer GM, Bird TD, Skoff RP, Garbern JY.
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| Acta Neuropathol 118(4):531-9. Epub 2009 Jun 27.
2009
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| 12 | PMDX, PLP1
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| Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications.
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| Regis S, Biancheri R, Bertini E, Burlina A, Lualdi S, Bianco MG, Devescovi R, Rossi A, Uziel G, Filocamo M.
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| Clin Genet 73(3):279-87. Epub 2007 Jan 9. 2008
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| 13 | PLP1, PMDX, SPG2
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| PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.
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| Bonnet-Dupeyron MN, Combes P, Santander P, Cailloux F, Boespflug-Tanguy O, Vaurs-Barrière C.
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| Hum Mutat 29(8):1028-36.
2008
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| 14 | PLP1, PMDX
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| A common mechanism of PLP/DM20 misfolding causes cysteine-mediated endoplasmic reticulum retention in oligodendrocytes and Pelizaeus-Merzbacher disease.
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| Dhaunchak AS, Nave KA.
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| Proc Natl Acad Sci U S A 104(45):17813-8. Epub 2007 Oct 25. 2007
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| 15 | PLP1, PMDX, DRD4, DRD5
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| Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
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| Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR.
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| Hum Mol Genet 15(14):2250-65. Epub 2006 Jun 14. 2006
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| 16 | PMDX
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| Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.
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| Hurst S, Garbern J, Trepanier A, Gow A.
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| Genet Med 8(6):371-8. 2006
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| 17 | PMDX, PLP1
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| Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease.
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| Gao Q, Thurston VC, Vance GH, Dlouhy SR, Hodes ME.
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| Clin Genet 68(5):466-7. 2005
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| 18 | PMDX, PLP1
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| Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.
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| Woodward KJ, Cundall M, Sperle K, Sistermans EA, Ross M, Howell G, Gribble SM, Burford DC, Carter NP, Hobson DL, Garbern JY, Kamholz J, Heng H, Hodes ME, Malcolm S, Hobson GM.
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| Am J Hum Genet 77(6):966-87. Epub 2005 Oct 19. 2005
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| 19 | GPM6B, PMDX
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| Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome.
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| Henneke M, Wehner LE, Hennies HC, Preuss N, Gartner J.
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| Am J Med Genet 128A(2):156-8. 2004
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| 20 | PLP1, SPG2, PMDX
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| Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene.
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| Hudson LD.
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| J Child Neurol 18(9):616-24. Review. 2003
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| 21 | PMDX, PLP1
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| Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.
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| Inoue K, Osaka H, Thurston VC, Clarke JT, Yoneyama A, Rosenbarker L, Bird TD, Hodes ME, Shaffer LG, Lupski JR.
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| Am J Hum Genet 71(4):838-53. Epub 2002 Sep 20. 2002
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| 22 | PMDX
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| X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations.
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| Woodward K, Kirtland K, Dlouhy S, Raskind W, Bird T, Malcolm S, Abeliovich D.
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| Eur J Hum Genet 8(6):449-54. 2000
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| 23 | PLP1, PMDX
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| Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.
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| Hodes ME, Woodward K, Spinner NB, Emanuel BS, Enrico-Simon A, Kamholz J, Stambolian D, Zackai EH, Pratt VM, Thomas IT, Crandall K, Dlouhy SR, Malcolm S.
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| Am J Hum Genet 67(1):14-22. 2000
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| 24 | PLP1, PLP2, PMDX, SPG2
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| Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations.
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| Cailloux F, Gauthier-Barichard F, Mimault C, Isabelle V, Courtois V, Giraud G, Dastugue B, Boespflug-Tanguy O.
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| Eur J Hum Genet 8(11):837-45. 2000
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| 25 | PLP1, PMDX, SPG2
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| Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).
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| Hodes ME, et al.
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| Am J Med Genet 82 : 132-139. 1999
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| 26 | PLP1, PMDX
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| Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity.
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| Osaka H, Kawanishi C, Inoue K, Onishi H, Kobayashi T, Sugiyama N, Kosaka K, Nezu A, Fujii K, Sugita K, Kodama K, Murayama K, Murayama S, Kanazawa I, Kimura S.
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| Ann Neurol 45(1):59-64. 1999
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| 27 | PMDX, PLP1
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| Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations.
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| Inoue K, et al.
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| Ann Neurol 45(5):624-32. 1999
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| 28 | PMDX
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| 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. The Clinical European Network on Brain Dysmyelinating Disease.
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| Mimault C, et al.
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| Am J Hum Genet 65(2):360-9. 1999
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| 29 | PLP1, PMDX
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| A de novo splice donor site mutation causes in-frame deletion of 14 amino acids in the proteolipid protein in Pelizaeus-Merzbacher disease.
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| Aoyagi Y, et al.
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| Ann Neurol 46(1):112-5 1999
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| 30 | PMDX
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| Pelizaeus-Merzbacher disease : identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.
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| Woodward K, et al.
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| Am J Hum Genet 63 : 207-217. 1998
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| 31 | PLP1, PMDX
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| Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.
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| Sistermans EA, et al.
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| Neurology 50 : 1749-1754. 1998
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| 32 | PLP1, PMDX
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| Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease.
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| Hodes ME, et al.
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| Am J Med Genet 69 : 121-125. 1997
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| 33 | PLP1, PMDX
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| A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease.
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| Kawanishi C, et al.
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| Hum Mutat 9 : 475. 1997
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| 34 | PLP1, PMDX
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| A new proteolipid lipoprotein mutation in Pelizaeus-Merzbacher disease.
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| Verhagen WIM, et al.
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| J Neurol Sci 147 : 215-216. 1997
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| 35 | PLP1, PMDX
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| Pelizaeus-Merzbacher-like disease: exclusion of the proteolipid protein locus and documentation of a new locus on Xq.
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| Lazzarini A, Schwarz KO, Jiang S, Stenroos ES, Lehner T, Johnson WG.
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| Neurology 49(3):824-32. 1997
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| 36 | PLP1, PMDX
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| Duplication of proteolipid protein gene: a possible major cause of Pelizaeus-Merzbacher disease.
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| Wang PJ, Hwu WL, Lee WT, Wang TR, Shen YZ.
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| Pediatr Neurol 17(2):125-8. 1997
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| 37 | PLP1, PMDX
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| A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family.
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| Sistermans EA, et al.
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| Hum Genet 97 : 337-339. 1996
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| 38 | PLP1, PMDX
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| Pelizaeus-Merzbacher disease : a novel mutation in the 5'-untranslated region of the proteolipid protein gene.
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| Kawanishi C, et al.
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| Hum Mutat 7 : 355-357. 1996
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| 39 | PLP1, PMDX
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| A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR.
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| Inoue K, et al.
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| Am J Hum Genet 59 : 32-39. 1996
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| 40 | PLP1, PMDX
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| A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease.
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| Gow A, et al.
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| Nat Genet 13 : 422-428. 1996
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| 41 | PLP1, PMDX
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| Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene.
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| Hodes ME, et al.
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| Am J Med Genet 55 : 397-401. 1995
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| 42 | PLP1, PMDX
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| Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene.
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| Pratt VM, et al.
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| Am J Med Genet 55 : 402-404. 1995
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| 43 | PLP1, PMDX
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| In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.
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| Kleindorfer DO, et al.
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| Am J Med Genet 55 : 405-407. 1995
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| 44 | PMDX, PLP1
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| A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
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| Pratt VM, et al.
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| Neurology 45 : 394-395. 1995
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| 45 | PLP1, PMDX
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| Pelizaeus-Merzbacher disease : a point mutation in exon 6 of the proteolipid protein (PLP) gene.
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| Pratt VM, et al.
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| Clin Genet 47 : 99-100. 1995
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| 46 | PMDX, PLP1
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| Genetic homogeneity of Pelizaeus-Merzbacher disease : tight linkage to the proteolipoprotein locus in 16 affected families.
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| Boespflug-Tanguy O, et al.
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| Am J Hum Genet 55 : 461-467. 1994
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| 47 | PLP1, PMDX
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| Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy : clinical and molecular studies.
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| Kaye EM, et al.
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| Ann Neurol 36 : 916-919. 1994
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| 48 | PMDX, PLP1
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| A G to T mutation at a splice site in a case of Pelizaeus-Merzbacher disease.
|
| Strautnieks S, et al.
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| Hum Mol Genet 2 : 2191-2192. 1993
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| 49 | PMDX, PLP1
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| A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease.
|
| Kurosawa K, et al.
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| Hum Mol Genet 2 : 2187-2189. 1993
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| 50 | PLP1, PMDX
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| Pelizaeus-Merzbacher disease : a frameshift deletion/insertion event in the myelin proteolipid gene.
|
| Pham-Dinh D, et al.
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| Hum Mol Genet 2 : 465-467. 1993
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| 51 | PLP1, PMDX
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| Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred.
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| Pratt VM, et al.
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| Am J Hum Genet 52 : 1053-1056. 1993
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| 52 | PMDX, PLP1
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| Pelizaeus-Merzbacher disease caused by a splice mutation of the proteolipid protein gene and a rearrangement leading to duplication.
|
| Ellis D, et al.
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| Am J Hum Genet 53 : 1155. 1993
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| 53 | PMDX, PLP1
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| An in-frame deletion in the proteolipid protein gene in a family with Pelizaeus-Merzbacher disease.
|
| Kleindorfer DO, et al.
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| Am J Hum Genet 53 : 1171. 1993
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| 54 | PMDX, PLP1
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| Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease.
|
| Doll R, et al.
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| Am J Hum Genet 51 : 161-169. 1992
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| 55 | PMDX, PLP1
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| The role of proteolipid protein gene mutations in Pelizaeus-Merzbacher disease.
|
| Bridge PJ, et al.
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| Am J Hum Genet 51 : A209. 1992
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| 56 | PMDX, PLP1
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| Pelizaeus-Merzbacher disease : detection of mutations Thr181-Pro and Leu223-Pro in the proteolipid protein gene, and prenatal diagnosis.
|
| Straunieks S, et al.
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| Am J Hum Genet 51 : 871-878. 1992
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| 57 | PLP1, PMDX
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| Pelizaeus-Merzbacher disease : a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid.
|
| Pham-Dinh D, et al.
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| Proc Natl Acad Sci U S A 88 : 7562-7566. 1991
|
| 58 | PMDX
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| Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease.
|
| Raskind WH, et al.
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| Am J Hum Genet 49 : 1355-1360. 1991
|
| 59 | PMDX
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| A new mutation in the proteolipid protein (PLP) gene in a german family with Pelizaeus-Merzbacher disease.
|
| Pratt VM, et al.
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| Am J Med Genet 38 : 136-139. 1991
|
| 60 | PMDX
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| Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis.
|
| MŠenpŠŠ J, et al.
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| Clin Genet 37 : 141-146. 1990
|
| 61 | PLP1, PMDX
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| Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.
|
| Gencic S, et al.
|
| Am J Hum Genet 45 : 435-442. 1989
|
| 62 | PLP1, PMDX
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| Pelizaeus-Merzbacher disease shows perfect linkage to sequence variant in second exon of proteolipid protein gene.
|
| Trofatter JA, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 1093. 1989
|
| 63 | PMDX
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| Autosomal recessive form of connatal Pelizaeus-Merzbacher disease.
|
| Begleiter ML, et al.
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| Am J Med Genet 33 : 311-313. 1989
|
| 64 | PMDX, PLP1
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| Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.
|
| Hudson LD, et al.
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| Proc Natl Acad Sci U S A 86 : 8128-8131. 1989
|
| 65 | PMDX
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| Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant.
|
| Trofatter JA, et al.
|
| Proc Natl Acad Sci U S A 86 : 9427-9430. 1989
|
| 66 | PMDX, PLP1
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| Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease.
|
| Koeppen AH, et al.
|
| Ann Neurol 21 : 159-170. 1987
|
| 67 | PMDX
|
| Connatal Pelizaeus-Merzbacher disease : evidence for an autosomal recessive form and genetic heterogeneity.
|
| Cassidy SB, et al.
|
| Am J Hum Genet 41 : A51. 1987
|
| 68 | PLP1, PMDX
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| Assignment of the gene for myelin proteolipid protein to the X chromosome : implications for X-linked myelin disorders.
|
| Willard HF, et al.
|
| Science 230 : 940-942. 1985
|