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Volumn , Issue , 2006, Pages 169-178

The CMT1A duplication and HNPP deletion

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EID: 77955983862     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-59745-039-3_11     Document Type: Chapter
Times cited : (3)

References (75)
  • 1
    • 0000907007 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth peripheral neuropathies and related disorders
    • (Scriver CR Beaudet AL Sly WS Valle D Vogelstein B Childs B eds.) New York NY: McGraw-Hill
    • Lupski JR, Garcia A. Charcot-Marie-Tooth peripheral neuropathies and related disorders. In: The Metabolic and Molecular Bases of Inherited Diseases (Scriver CR, Beaudet AL, Sly WS, Valle D, Vogelstein B, Childs B, eds.) New York, NY: McGraw-Hill, 2001; pp. 5759-5788.
    • (2001) The Metabolic and Molecular Bases of Inherited Diseases , pp. 5759-5788
    • Lupski, J.R.1    Garcia, A.2
  • 2
    • 84882866259 scopus 로고    scopus 로고
    • Hereditary motor and sensory neuropathies
    • (Dyck PJ Thomas PK eds.) Philadelphia PA: Elisevier Science
    • Shy ME, Lupski JR, Chance PF, Klein CJ, Dyck PJ. Hereditary motor and sensory neuropathies. In: Peripheral Neuropathy (Dyck PJ, Thomas PK, eds.) Philadelphia, PA: Elisevier Science, 2005; pp. 1623-1658.
    • (2005) Peripheral Neuropathy , pp. 1623-1658
    • Shy, M.E.1    Lupski, J.R.2    Chance, P.F.3    Klein, C.J.4    Dyck, P.J.5
  • 3
    • 0025997898 scopus 로고
    • Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
    • The HMSN Collaborative Research Group
    • Raeymaekers P, Timmerman V, Nelis E, et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord 1991;1:93-97.
    • (1991) Neuromuscul Disord , vol.1 , pp. 93-97
    • Raeymaekers, P.1    Timmerman, V.2    Nelis, E.3
  • 4
    • 0025868571 scopus 로고
    • DNA duplication associated with Charcot-Marie-Tooth disease type 1A
    • Lupski JR, de Oca-Luna RM, Slaugenhaupt S, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991;66:219-232.
    • (1991) Cell , vol.66 , pp. 219-232
    • Lupski, J.R.1    De Oca-Luna, R.M.2    Slaugenhaupt, S.3
  • 5
    • 0026699926 scopus 로고
    • Charcot-Marie-Tooth neuropathy type 1A mutation: Apparent crossovers with D17S122 are due to a duplication
    • Nicholson GA, Kennerson ML, Keats BJ, et al. Charcot-Marie-Tooth neuropathy type 1A mutation: apparent crossovers with D17S122 are due to a duplication. Am J Med Genet 1992;44:455-460.
    • (1992) Am J Med Genet , vol.44 , pp. 455-460
    • Nicholson, G.A.1    Kennerson, M.L.2    Keats, B.J.3
  • 6
    • 0026578139 scopus 로고
    • Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type i (Charcot-Marie-Tooth disease type 1)
    • Hallam PJ, Harding AE, Berciano J, Barker DF, Malcolm S. Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1). Ann Neurol 1992;31:570-572.
    • (1992) Ann Neurol , vol.31 , pp. 570-572
    • Hallam, P.J.1    Harding, A.E.2    Berciano, J.3    Barker, D.F.4    Malcolm, S.5
  • 7
    • 0027949179 scopus 로고
    • Charcot-Marie-Tooth disease type 1A: The parental origin of a de novo 17p11.2-p12 duplication
    • Hertz JM, Borglum AD, Brandt CA, Flint T, Bisgaard C. Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication. Clin Genet 1994;46:291-294.
    • (1994) Clin Genet , vol.46 , pp. 291-294
    • Hertz, J.M.1    Borglum, A.D.2    Brandt, C.A.3    Flint, T.4    Bisgaard, C.5
  • 8
    • 0026440372 scopus 로고
    • Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group
    • Brice A, Ravise N, Stevanin G, et al. Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group. J Med Genet 1992;29:807-812.
    • (1992) J Med Genet , vol.29 , pp. 807-812
    • Brice, A.1    Ravise, N.2    Stevanin, G.3
  • 9
    • 0026769342 scopus 로고
    • Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families
    • Bellone E, Mandich P, Mancardi GL, et al. Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families. J Med Genet 1992;29:492-493.
    • (1992) J Med Genet , vol.29 , pp. 492-493
    • Bellone, E.1    Mandich, P.2    Mancardi, G.L.3
  • 10
    • 0028809223 scopus 로고
    • Charcot-Marie-Tooth disease: Molecular characterization of patients from central and southern Italy
    • Guzzetta V, Santoro L, Gasparo-Rippa P, et al. Charcot-Marie-Tooth disease: molecular characterization of patients from central and southern Italy. Clin Genet 1995;47:27-32.
    • (1995) Clin Genet , vol.47 , pp. 27-32
    • Guzzetta, V.1    Santoro, L.2    Gasparo-Rippa, P.3
  • 11
    • 0028232468 scopus 로고
    • Charcot-Marie-Tooth disease in northern Sweden: Pedigree analysis and the presence of the duplication in chromosome 17p11.2
    • Holmberg BH, Holmgren G, Nelis E, van Broeckhoven C, Westerberg B. Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2. J Med Genet 1994;31:435-441.
    • (1994) J Med Genet , vol.31 , pp. 435-441
    • Holmberg, B.H.1    Holmgren, G.2    Nelis, E.3    Van Broeckhoven, C.4    Westerberg, B.5
  • 12
    • 0029122798 scopus 로고
    • Asian hereditary neuropathy patients with peripheral myelin protein-22 gene aneuploidy
    • Ohnishi A, Li LY, Fukushima Y, et al. Asian hereditary neuropathy patients with peripheral myelin protein-22 gene aneuploidy. Am J Med Genet 1995;59:51-58.
    • (1995) Am J Med Genet , vol.59 , pp. 51-58
    • Ohnishi, A.1    Li, L.Y.2    Fukushima, Y.3
  • 13
    • 0029863589 scopus 로고    scopus 로고
    • Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study
    • Nelis E, Van Broeckhoven C, De Jonghe P, et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996;4:25-33.
    • (1996) Eur J Hum Genet , vol.4 , pp. 25-33
    • Nelis, E.1    Van Broeckhoven, C.2    De Jonghe, P.3
  • 14
    • 0027374931 scopus 로고
    • Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication
    • Wise CA, Garcia CA, Davis SN, et al. Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am J Hum Genet 1993;53:853-863.
    • (1993) Am J Hum Genet , vol.53 , pp. 853-863
    • Wise, C.A.1    Garcia, C.A.2    Davis, S.N.3
  • 15
    • 0027108731 scopus 로고
    • De-novo mutation in hereditary motor and sensory neuropathy type i
    • Hoogendijk JE, Hensels GW, Gabreels-Festen AA, et al. De-novo mutation in hereditary motor and sensory neuropathy type I. Lancet 1992;339:1081-1082.
    • (1992) Lancet , vol.339 , pp. 1081-1082
    • Hoogendijk, J.E.1    Hensels, G.W.2    Gabreels-Festen, A.A.3
  • 16
    • 0028273011 scopus 로고
    • 17p11.2 duplication is a common finding in sporadic cases of Charcot-Marie-Tooth type 1
    • Mancardi GL, Uccelli A, Bellone E, et al. 17p11.2 duplication is a common finding in sporadic cases of Charcot-Marie-Tooth type 1. Eur Neurol 1994;34:135-139.
    • (1994) Eur Neurol , vol.34 , pp. 135-139
    • Mancardi, G.L.1    Uccelli, A.2    Bellone, E.3
  • 17
    • 0030030169 scopus 로고    scopus 로고
    • Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: First report of a de novo duplication with a maternal origin
    • Blair IP, Nash J, Gordon MJ, Nicholson GA. Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin. Am J Hum Genet 1996;58:472-476.
    • (1996) Am J Hum Genet , vol.58 , pp. 472-476
    • Blair, I.P.1    Nash, J.2    Gordon, M.J.3    Nicholson, G.A.4
  • 18
    • 0031038297 scopus 로고    scopus 로고
    • Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A
    • Bort S, Martinez F, Palau F. Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A. Am J Hum Genet 1997;60:230-233.
    • (1997) Am J Hum Genet , vol.60 , pp. 230-233
    • Bort, S.1    Martinez, F.2    Palau, F.3
  • 19
    • 0027759563 scopus 로고
    • Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: Unequal nonsister chromatid exchange during spermatogenesis
    • Palau F, Lofgren A, De Jonghe P, et al. Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis. Hum Mol Genet 1993;2:2031-2035.
    • (1993) Hum Mol Genet , vol.2 , pp. 2031-2035
    • Palau, F.1    Lofgren, A.2    De Jonghe, P.3
  • 20
    • 0027017033 scopus 로고
    • Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
    • Pentao L, Wise CA, Chinault AC, Patel PI, Lupski J.R. 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.
    • (1992) Nat Genet , vol.2 , pp. 292-300
    • Pentao, L.1    Wise, C.A.2    Chinault, A.C.3    Patel, P.I.4    Lupski, J.R.5
  • 21
    • 0029999248 scopus 로고    scopus 로고
    • Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot
    • Kiyosawa H, Chance PF. Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot. Hum Mol Genet 1996;5:745-753.
    • (1996) Hum Mol Genet , vol.5 , pp. 745-753
    • Kiyosawa, H.1    Chance, P.F.2
  • 23
    • 0030871024 scopus 로고    scopus 로고
    • The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs
    • Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski J.R. The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum Mol Genet 1997;6:1595-1603.
    • (1997) Hum Mol Genet , vol.6 , pp. 1595-1603
    • Reiter, L.T.1    Murakami, T.2    Koeuth, T.3    Gibbs, R.A.4    Lupski, J.R.5
  • 24
    • 0036591666 scopus 로고    scopus 로고
    • Molecular-evolutionary mechanisms for genomic disorders
    • Stankiewicz P, Lupski J.R. Molecular-evolutionary mechanisms for genomic disorders. Curr Opin Genet Dev 2002;12:312-319.
    • (2002) Curr Opin Genet Dev , vol.12 , pp. 312-319
    • Stankiewicz, P.1    Lupski, J.R.2
  • 25
    • 0031570285 scopus 로고    scopus 로고
    • Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene
    • Murakami T, Reiter LT, Lupski J.R. Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. Genomics 1997;42:161-164.
    • (1997) Genomics , vol.42 , pp. 161-164
    • Murakami, T.1    Reiter, L.T.2    Lupski, J.R.3
  • 26
    • 0031573383 scopus 로고    scopus 로고
    • The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene
    • Kennerson ML, Nassif NT, Dawkins JL, DeKroon RM, Yang JG, Nicholson GA. The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene. Genomics 1997;46:61-69.
    • (1997) Genomics , vol.46 , pp. 61-69
    • Kennerson, M.L.1    Nassif, N.T.2    Dawkins, J.L.3    Dekroon, R.M.4    Yang, J.G.5    Nicholson, G.A.6
  • 27
    • 0034830932 scopus 로고    scopus 로고
    • 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
    • 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.
    • (2001) Genome Res , vol.11 , pp. 1018-1033
    • Inoue, K.1    Dewar, K.2    Katsanis, N.3
  • 28
  • 29
    • 0035500899 scopus 로고    scopus 로고
    • Recent duplication, domain accretion and the dynamic mutation of the human genome
    • Eichler EE. Recent duplication, domain accretion and the dynamic mutation of the human genome. Trends Genet 2001;17:661-669.
    • (2001) Trends Genet , vol.17 , pp. 661-669
    • Eichler, E.E.1
  • 30
    • 0026879648 scopus 로고
    • The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A
    • Valentijn LJ, Bolhuis PA, Zorn I, et al. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat Genet 1992;1:166-170.
    • (1992) Nat Genet , vol.1 , pp. 166-170
    • Valentijn, L.J.1    Bolhuis, P.A.2    Zorn, I.3
  • 31
    • 0027509953 scopus 로고
    • DNA deletion associated with hereditary neuropathy with liability to pressure palsies
    • Chance PF, Alderson MK, Leppig KA, et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993;72:143-151.
    • (1993) Cell , vol.72 , pp. 143-151
    • Chance, P.F.1    Alderson, M.K.2    Leppig, K.A.3
  • 32
    • 0027489565 scopus 로고
    • Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A
    • Roa BB, Garcia CA, Pentao L, et al. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nat Genet 1993;5:189-194.
    • (1993) Nat Genet , vol.5 , pp. 189-194
    • Roa, B.B.1    Garcia, C.A.2    Pentao, L.3
  • 33
    • 0027972378 scopus 로고
    • Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
    • 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.
    • (1994) Hum Mol Genet , vol.3 , pp. 223-228
    • Chance, P.F.1    Abbas, N.2    Lensch, M.W.3
  • 34
    • 0037315253 scopus 로고    scopus 로고
    • Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture
    • Lupski J.R. 2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture. Am J Hum Genet 2003;72:246-252.
    • (2002) Am J Hum Genet , vol.72 , pp. 246-252
    • Lupski, J.R.1
  • 35
    • 0029962292 scopus 로고    scopus 로고
    • A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
    • Reiter LT, Murakami T, Koeuth T, et al. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet 1996;12:288-297.
    • (1996) Nat Genet , vol.12 , pp. 288-297
    • Reiter, L.T.1    Murakami, T.2    Koeuth, T.3
  • 36
    • 0028810444 scopus 로고
    • Analysis of the CMT1A-REP repeat: Mapping crossover breakpoints in CMT1A and HNPP
    • Kiyosawa H, Lensch MW, Chance PF. Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP. Hum Mol Genet 1995;4:2327-2334.
    • (1995) Hum Mol Genet , vol.4 , pp. 2327-2334
    • Kiyosawa, H.1    Lensch, M.W.2    Chance, P.F.3
  • 37
    • 16944365439 scopus 로고    scopus 로고
    • Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent
    • Timmerman V, Rautenstrauss B, Reiter LT, et al. Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent. J Med Genet 1997;34:43-49.
    • (1997) J Med Genet , vol.34 , pp. 43-49
    • Timmerman, V.1    Rautenstrauss, B.2    Reiter, L.T.3
  • 38
    • 0029989649 scopus 로고    scopus 로고
    • Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: New tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group
    • Lopes J, LeGuern E, Gouider R, et al. Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group. Am J Hum Genet 1996;58:1223-1230.
    • (1996) Am J Hum Genet , vol.58 , pp. 1223-1230
    • Lopes, J.1    Leguern, E.2    Gouider, R.3
  • 39
    • 17144461625 scopus 로고    scopus 로고
    • Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP
    • Yamamoto M, Yasuda T, Hayasaka K, et al. Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP. Hum Genet 1997;99:151-154.
    • (1997) Hum Genet , vol.99 , pp. 151-154
    • Yamamoto, M.1    Yasuda, T.2    Hayasaka, K.3
  • 40
    • 0031934502 scopus 로고    scopus 로고
    • Rapid detection of a recombinant hotspot associated with Charcot-Marie-Tooth disease type IA duplication by a PCR-based DNA test
    • Chang JG, Jong YJ, Wang WP, et al. Rapid detection of a recombinant hotspot associated with Charcot-Marie-Tooth disease type IA duplication by a PCR-based DNA test. Clin Chem 1998;44:270-274.
    • (1998) Clin Chem , vol.44 , pp. 270-274
    • Chang, J.G.1    Jong, Y.J.2    Wang, W.P.3
  • 41
    • 8444225364 scopus 로고    scopus 로고
    • Homologous recombination hotspots in the human genome-not all homolgous sequences are equal
    • Lupski J.R. Homologous recombination hotspots in the human genome-not all homolgous sequences are equal. Genome Biology 2004;5:242.
    • (2004) Genome Biology , vol.5 , pp. 242
    • Lupski, J.R.1
  • 42
    • 0031972093 scopus 로고    scopus 로고
    • Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients
    • Reiter LT, Hastings PJ, Nelis E, De Jonghe P, Van Broeckhoven C, Lupski J.R. Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet 1998;62:1023-1033.
    • (1998) Am J Hum Genet , vol.62 , pp. 1023-1033
    • Reiter, L.T.1    Hastings, P.J.2    Nelis, E.3    De Jonghe, P.4    Van Broeckhoven, C.5    Lupski, J.R.6
  • 43
    • 0032695458 scopus 로고    scopus 로고
    • Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: A study of 17p11.2 rearrangements associated with CMT1A and HNPP
    • Lopes J, Tardieu S, Silander K, et al. Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP. Hum Mol Genet 1999;8:2285-2292.
    • (1999) Hum Mol Genet , vol.8 , pp. 2285-2292
    • Lopes, J.1    Tardieu, S.2    Silander, K.3
  • 44
    • 0028225413 scopus 로고
    • Detection of tandem duplications and implications for linkage analysis
    • Matise TC, Chakravarti A, Patel PI, et al. Detection of tandem duplications and implications for linkage analysis. Am J Hum Genet 1994;54:1110-1121.
    • (1994) Am J Hum Genet , vol.54 , pp. 1110-1121
    • Matise, T.C.1    Chakravarti, A.2    Patel, P.I.3
  • 45
    • 0026849499 scopus 로고
    • Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A
    • Lupski JR, Wise CA, Kuwano A, et al. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat Genet 1992;1:29-33.
    • (1992) Nat Genet , vol.1 , pp. 29-33
    • Lupski, J.R.1    Wise, C.A.2    Kuwano, A.3
  • 46
    • 0026879838 scopus 로고
    • Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A
    • Matsunami N, Smith B, Ballard L, et al. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet 1992;1:176-179.
    • (1992) Nat Genet , vol.1 , pp. 176-179
    • Matsunami, N.1    Smith, B.2    Ballard, L.3
  • 47
    • 0026879614 scopus 로고
    • The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A
    • Patel PI, Roa BB, Welcher AA, et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet 1992;1:159-165.
    • (1992) Nat Genet , vol.1 , pp. 159-165
    • Patel, P.I.1    Roa, B.B.2    Welcher, A.A.3
  • 48
    • 0026879615 scopus 로고
    • The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication
    • Timmerman V, Nelis E, Van Hul W, et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet 1992;1:171-175.
    • (1992) Nat Genet , vol.1 , pp. 171-175
    • Timmerman, V.1    Nelis, E.2    Van Hul, W.3
  • 51
    • 84891394743 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease: A gene-dosage effect
    • Lupski J.R. Charcot-Marie-Tooth disease: a gene-dosage effect. Hosp Pract (Off Ed) 1997:32-85.
    • (1997) Hosp Pract (Off Ed) , pp. 32-85
    • Lupski, J.R.1
  • 52
    • 0028221758 scopus 로고
    • Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A
    • Yoshikawa H, Nishimura T, Nakatsuji Y, et al. Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann Neurol 1994;35:445-450.
    • (1994) Ann Neurol , vol.35 , pp. 445-450
    • Yoshikawa, H.1    Nishimura, T.2    Nakatsuji, Y.3
  • 53
    • 0028230766 scopus 로고
    • Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies
    • Hanemann CO, Stoll G, D'Urso D, et al. Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies. J Neurosci Res 1994;37:654-659.
    • (1994) J Neurosci Res , vol.37 , pp. 654-659
    • Hanemann, C.O.1    Stoll, G.2    D'Urso, D.3
  • 55
    • 0028131358 scopus 로고
    • Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A
    • Kamholz J, Shy M, Scherer S. Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann Neurol 1994;36: 451-452.
    • (1994) Ann Neurol , vol.36 , pp. 451-452
    • Kamholz, J.1    Shy, M.2    Scherer, S.3
  • 56
    • 0031035514 scopus 로고    scopus 로고
    • Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies
    • Schenone A, Nobbio L, Mandich P, et al. Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies. Neurology 1997;48:445-449.
    • (1997) Neurology , vol.48 , pp. 445-449
    • Schenone, A.1    Nobbio, L.2    Mandich, P.3
  • 57
    • 0031441542 scopus 로고    scopus 로고
    • Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies
    • Schenone A, Nobbio L, Caponnetto C, et al. Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies. Ann Neurol 1997;42:866-872.
    • (1997) Ann Neurol , vol.42 , pp. 866-872
    • Schenone, A.1    Nobbio, L.2    Caponnetto, C.3
  • 58
    • 0031471867 scopus 로고    scopus 로고
    • Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies
    • Gabriel JM, Erne B, Pareyson D, Sghirlanzoni A, Taroni F, Steck AJ. Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies. Neurology 1997;49:1635-1640.
    • (1997) Neurology , vol.49 , pp. 1635-1640
    • Gabriel, J.M.1    Erne, B.2    Pareyson, D.3    Sghirlanzoni, A.4    Taroni, F.5    Steck, A.J.6
  • 59
    • 0029931697 scopus 로고    scopus 로고
    • Ultrastructural PMP22 expression in inherited demyelinating neuropathies
    • Vallat JM, Sindou P, Preux PM, et al. Ultrastructural PMP22 expression in inherited demyelinating neuropathies. Ann Neurol 1996;39:813-817.
    • (1996) Ann Neurol , vol.39 , pp. 813-817
    • Vallat, J.M.1    Sindou, P.2    Preux, P.M.3
  • 60
    • 0029877942 scopus 로고    scopus 로고
    • Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA
    • Huxley C, Passage E, Manson A, et al. Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA. Hum Mol Genet 1996;5:563-569.
    • (1996) Hum Mol Genet , vol.5 , pp. 563-569
    • Huxley, C.1    Passage, E.2    Manson, A.3
  • 61
    • 0029843863 scopus 로고    scopus 로고
    • Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage
    • Magyar JP, Martini R, Ruelicke T, et al. Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage. J Neurosci 1996;16:5351-5360.
    • (1996) J Neurosci , vol.16 , pp. 5351-5360
    • Magyar, J.P.1    Martini, R.2    Ruelicke, T.3
  • 62
    • 15844393894 scopus 로고    scopus 로고
    • A transgenic rat model of Charcot-Marie-Tooth disease
    • Sereda M, Griffiths I, Puhlhofer A, et al. A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 1996;16:1049-1060.
    • (1996) Neuron , vol.16 , pp. 1049-1060
    • Sereda, M.1    Griffiths, I.2    Puhlhofer, A.3
  • 63
    • 6844255894 scopus 로고    scopus 로고
    • Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice
    • 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.
    • (1998) Hum Mol Genet , vol.7 , pp. 449-458
    • Huxley, C.1    Passage, E.2    Robertson, A.M.3
  • 64
    • 0030994297 scopus 로고    scopus 로고
    • Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy
    • 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.
    • (1997) J Neurosci , vol.17 , pp. 4662-4671
    • Adlkofer, K.1    Frei, R.2    Neuberg, D.H.3    Zielasek, J.4    Toyka, K.V.5    Suter, U.6
  • 65
    • 0030440916 scopus 로고    scopus 로고
    • A transgenic mouse model for human hereditary neuropathy with liability to pressure palsies
    • Maycox PR, Ortuno D, Burrola P, et al. A transgenic mouse model for human hereditary neuropathy with liability to pressure palsies. Mol Cell Neurosci 1997;8:405-416.
    • (1997) Mol Cell Neurosci , vol.8 , pp. 405-416
    • Maycox, P.R.1    Ortuno, D.2    Burrola, P.3
  • 66
    • 0347185347 scopus 로고    scopus 로고
    • Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A)
    • Sereda MW, Meyer zu Horste G, Suter U, Uzma N, Nave KA. Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nat Med 2003;9:1533-1537.
    • (2003) Nat Med , vol.9 , pp. 1533-1537
    • Sereda, M.W.1    Meyerzu Horste, G.2    Suter, U.3    Uzma, N.4    Nave, K.A.5
  • 67
    • 1942422646 scopus 로고    scopus 로고
    • Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease
    • Passage E, Norreel JC, Noack-Fraissignes P, et al. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med 2004;10:396-401.
    • (2004) Nat Med , vol.10 , pp. 396-401
    • Passage, E.1    Norreel, J.C.2    Noack-Fraissignes, P.3
  • 68
    • 0347478054 scopus 로고    scopus 로고
    • Anti-steroid takes aim at neuropathy
    • De Jonghe P, Timmerman V. Anti-steroid takes aim at neuropathy. Nat Med 2003;9:1457-1458.
    • (2003) Nat Med , vol.9 , pp. 1457-1458
    • De Jonghe, P.1    Timmerman, V.2
  • 69
    • 0035046886 scopus 로고    scopus 로고
    • New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis
    • Badano JL, Inoue K, Katsanis N, Lupski J.R. New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis. Clin Chem 2001;47:838-843.
    • (2001) Clin Chem , vol.47 , pp. 838-843
    • Badano, J.L.1    Inoue, K.2    Katsanis, N.3    Lupski, J.R.4
  • 70
    • 0005088348 scopus 로고    scopus 로고
    • A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness
    • Kovach MJ, Lin JP, Boyadjiev S, et al. A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am J Hum Genet 1999;64:1580-1593.
    • (1999) Am J Hum Genet , vol.64 , pp. 1580-1593
    • Kovach, M.J.1    Lin, J.P.2    Boyadjiev, S.3
  • 71
    • 0029944979 scopus 로고    scopus 로고
    • Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion
    • Liehr T, Rautenstrauss B, Grehl H, et al. Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion. Hum Genet 1996;98:22-28.
    • (1996) Hum Genet , vol.98 , pp. 22-28
    • Liehr, T.1    Rautenstrauss, B.2    Grehl, H.3
  • 72
    • 0031731487 scopus 로고    scopus 로고
    • Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
    • Lupski J.R. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 1998;14:417-422.
    • (1998) Trends Genet , vol.14 , pp. 417-422
    • Lupski, J.R.1
  • 73
    • 0036468807 scopus 로고    scopus 로고
    • Genome architecture, rearrangements and genomic disorders
    • Stankiewicz P, Lupski J.R. Genome architecture, rearrangements and genomic disorders. Trends Genet 2002;18:74-82.
    • (2002) Trends Genet , vol.18 , pp. 74-82
    • Stankiewicz, P.1    Lupski, J.R.2
  • 74
    • 0028231331 scopus 로고
    • Charcot-Marie-Tooth disease: A new paradigm for the mechanism of inherited disease
    • Patel PI, Lupski J.R. Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet 1994;10:128-133.
    • (1994) Trends Genet , vol.10 , pp. 128-133
    • Patel, P.I.1    Lupski, J.R.2


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