메뉴 건너뛰기




Volumn 50, Issue 3, 2009, Pages 283-288

Screening of the 17p11.2-p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP)

Author keywords

Algorithm of molecular testing; CMT1A duplication; Hereditary neuropathies

Indexed keywords


EID: 69549120633     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03195684     Document Type: Article
Times cited : (10)

References (19)
  • 1
    • 0034531151 scopus 로고    scopus 로고
    • Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in heredi-tary neuropathy with liability to pressure palsies
    • Aarskog NK, Vedeler CA, 2000. Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in heredi-tary neuropathy with liability to pressure palsies. Hum Genet 107: 494-498.
    • (2000) Hum Genet , vol.107 , pp. 494-498
    • Aarskog, N.K.1    Vedeler, C.A.2
  • 2
    • 0027509953 scopus 로고
    • DNA deletion associated with hereditary neuropathy with liability to pressure palsies
    • Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami M, Smith B, et al. 1993. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72: 143-151.
    • (1993) Cell , vol.72 , pp. 143-151
    • Chance, P.F.1    Alderson, M.K.2    Leppig, K.A.3    Lensch, M.W.4    Matsunami, M.5    Smith, B.6
  • 3
    • 0030791245 scopus 로고    scopus 로고
    • Clinical, genetic and electrophysiologic correlation in hereditary neuropathy with liability to pressure palsies with involvement of PMP22 gene at chromosome 17p11.2
    • Cruz-Martinez A, Bort S, Arpa J, Duarte J, Palau F, 1997. Clinical, genetic and electrophysiologic correlation in hereditary neuropathy with liability to pressure palsies with involvement of PMP22 gene at chromosome 17p11.2. Eur J Neurol 4: 274-286
    • (1997) Eur J Neurol , vol.4 , pp. 274-286
    • Cruz-Martinez, A.1    Bort, S.2    Arpa, J.3    Duarte, J.4    Palau, F.5
  • 5
    • 0024457455 scopus 로고
    • Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1
    • Dyck PJ, Karnes JL, Lambert EH, 1989. Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1. Neurology 39: 1302-1308
    • (1989) Neurology , vol.39 , pp. 1302-1308
    • Dyck, P.J.1    Karnes, J.L.2    Lambert, E.H.3
  • 6
    • 0029399637 scopus 로고
    • Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion
    • Goudier R, LeGuern E, Gugenheim M, Tardieu S, Maisonobe T, Leger JM, et al. 1995. Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion. Neurology 45: 2018-2023.
    • (1995) Neurology , vol.45 , pp. 2018-2023
    • Goudier, R.1    Leguern, E.2    Gugenheim, M.3    Tardieu, S.4    Maisonobe, T.5    Leger, J.M.6
  • 7
    • 0037224513 scopus 로고    scopus 로고
    • Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): A clinicopathological study of 205 Japanese patients
    • Hattori N, Yamamoto M, Yoshihara T, et al. 2003. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. Brain 126: 134-151.
    • (2003) Brain , vol.126 , pp. 134-151
    • Hattori, N.1    Yamamoto, M.2    Yoshihara, T.3
  • 8
  • 9
    • 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, 1996. 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 4: 25-33.
    • (1996) Eur J Hum Genet , vol.4 , pp. 25-33
    • Nelis, E.1    van Broeckhoven, C.2
  • 10
    • 0028339044 scopus 로고
    • A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies
    • Nicholson GA, Valentijn LJ, Cherryson AK, et al. 1994. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet 6: 263-266.
    • (1994) Nat Genet , vol.6 , pp. 263-266
    • Nicholson, G.A.1    Valentijn, L.J.2    Cherryson, A.K.3
  • 11
    • 0026879614 scopus 로고
    • The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth type 1A disease
    • Patel PJ, Roa BB, Welcher AA, et al. 1992. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth type 1A disease. Nat Genet 1: 159-165.
    • (1992) Nat Genet , vol.1 , pp. 159-165
    • Patel, P.J.1    Roa, B.B.2    Welcher, A.A.3
  • 12
    • 0025344688 scopus 로고
    • Genetic mapping of the autosomal dominant Charcot-Marie- Tooth disease in a large French-Acadian kindred: Identification of new linked markers on chromosome 17
    • Patel PI, Franco B, Garcia C, et al. 1990. Genetic mapping of the autosomal dominant Charcot-Marie- Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J Hum Genet 46: 801-809
    • (1990) Am J Hum Genet , vol.46 , pp. 801-809
    • Patel, P.I.1    Franco, B.2    Garcia, C.3
  • 13
    • 0025997898 scopus 로고
    • Duplication in chromosome 17p11.2 in Charcot-MarieTooth neuropathy type 1a (CMT 1a)
    • Raeymaekers P, Timmerman V, Nelis E, 1992. Duplication in chromosome 17p11.2 in Charcot-MarieTooth neuropathy type 1a (CMT 1a). Neuromuscular Disorders 1: 93-97.
    • (1992) Neuromuscular Disorders , vol.1 , pp. 93-97
    • Raeymaekers, P.1    Timmerman, V.2    Nelis, E.3
  • 14
    • 0027314668 scopus 로고
    • Charcot-Marie-Tooth type 1A: Association with a spontaneous point mutation in the PMP22 gene
    • Roa BB, Garcia CA, Suter U, et al. 1993. Charcot-Marie-Tooth type 1A: association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 329: 96-101.
    • (1993) N Engl J Med , vol.329 , pp. 96-101
    • Roa, B.B.1    Garcia, C.A.2    Suter, U.3
  • 15
    • 0032789279 scopus 로고    scopus 로고
    • Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies
    • Stronach EA, Clark C, Bell Ch, et al. 1999. Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies. J Peripher Nerv Syst 4: 117-122.
    • (1999) J Peripher Nerv Syst , vol.4 , pp. 117-122
    • Stronach, E.A.1    Clark, C.2    Bell, C.3
  • 16
    • 33745234241 scopus 로고    scopus 로고
    • Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies
    • Szigeti K, Nelis E, Lupski JR, 2006. Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies. Neuromol Med 8:243-253.
    • (2006) Neuromol Med , vol.8 , pp. 243-253
    • Szigeti, K.1    Nelis, E.2    Lupski, J.R.3
  • 17
    • 0025083940 scopus 로고
    • Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT1a) gene to 17p11.2-p12
    • Timmerman V, Raeymaekers P, De Jonghe P, et al. 1990. Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT1a) gene to 17p11.2-p12. Am J Hum Genet 47: 680-685.
    • (1990) Am J Hum Genet , vol.47 , pp. 680-685
    • Timmerman, V.1    Raeymaekers, P.2    de Jonghe, P.3
  • 18
    • 0027031611 scopus 로고
    • Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A
    • Valentijn LJ, Baas F, Wolterman RA et al. 1992. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nature Genet 2: 288-291.
    • (1992) Nature Genet , vol.2 , pp. 288-291
    • Valentijn, L.J.1    Baas, F.2    Wolterman, R.A.3
  • 19
    • 0025976006 scopus 로고
    • Localization of Charcot-Marie-Tooth disease type 1a (CMT1a) to chromosome 17p11.2
    • Vance JM, Barker D, Yamoaka LH, et al. 1991. Localization of Charcot-Marie-Tooth disease type 1a (CMT1a) to chromosome 17p11.2. Genomics 9: 623-628.
    • (1991) Genomics , vol.9 , pp. 623-628
    • Vance, J.M.1    Barker, D.2    Yamoaka, L.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.