메뉴 건너뛰기




Volumn 51, Issue 5, 1998, Pages 1412-1416

Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: Ten novel mutations

Author keywords

[No Author keywords available]

Indexed keywords

GAP JUNCTION PROTEIN;

EID: 0031797442     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.51.5.1412     Document Type: Article
Times cited : (81)

References (29)
  • 1
    • 0016266593 scopus 로고
    • Genetic and clinical aspects of Charcot-Marie-Tooth disease
    • Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth disease. Clin Genet 1974;6:98-118.
    • (1974) Clin Genet , vol.6 , pp. 98-118
    • Skre, H.1
  • 2
    • 0028261691 scopus 로고
    • The Charcot-Marie-Tooth syndrome: Clinical aspects from a population study in South Wales, UK
    • MacMillan JC, Harper PS. The Charcot-Marie-Tooth syndrome: clinical aspects from a population study in South Wales, UK. Clin Genet 1994;45:128-134.
    • (1994) Clin Genet , vol.45 , pp. 128-134
    • MacMillan, J.C.1    Harper, P.S.2
  • 3
    • 0025998134 scopus 로고
    • Population frequencies of inherited neuromuscular diseases - A world survey
    • Emery AEH. Population frequencies of inherited neuromuscular diseases - a world survey. Neuromuscul Disord 1991;1: 19-29.
    • (1991) Neuromuscul Disord , vol.1 , pp. 19-29
    • Emery, A.E.H.1
  • 4
    • 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
  • 5
    • 0029863589 scopus 로고    scopus 로고
    • Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type one 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 one 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
  • 6
    • 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. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet 1992;2:288-291.
    • (1992) Nat Genet , vol.2 , pp. 288-291
    • Valentijn, L.J.1    Baas, F.2    Wolterman, R.A.3
  • 7
    • 0027314668 scopus 로고
    • Charcot-Marie-Tooth disease type 1a association with a spontaneous point mutation in the PMP22 gene
    • Roa BB, Garcia CA, Suter U, et al. Charcot-Marie-Tooth disease type 1A association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 1993;329:96-101.
    • (1993) N Engl J Med , vol.329 , pp. 96-101
    • Roa, B.B.1    Garcia, C.A.2    Suter, U.3
  • 8
    • 0027486810 scopus 로고
    • Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
    • Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet 1993;5:269-272.
    • (1993) Nat Genet , vol.5 , pp. 269-272
    • Roa, B.B.1    Dyck, P.J.2    Marks, H.G.3    Chance, P.F.4    Lupski, J.R.5
  • 10
    • 0028207090 scopus 로고
    • Identification of a 5÷ splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type one
    • Nelis E, Timmerman V, De Jonghe P, Van Broeckhoven C. Identification of a 5÷ splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type one. Hum Mol Genet 1994;3:515-516.
    • (1994) Hum Mol Genet , vol.3 , pp. 515-516
    • Nelis, E.1    Timmerman, V.2    De Jonghe, P.3    Van Broeckhoven, C.4
  • 11
    • 0030012076 scopus 로고    scopus 로고
    • A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease
    • Navon R, Seifried B, Gal-On NS, Sadeh M. A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease. Hum Genet 1996;97:685-687.
    • (1996) Hum Genet , vol.97 , pp. 685-687
    • Navon, R.1    Seifried, B.2    Gal-On, N.S.3    Sadeh, M.4
  • 12
    • 0027723256 scopus 로고    scopus 로고
    • Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families
    • Nicholson G, Nash J. Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Neurology 1993;43:2558-2564.
    • (1993) Neurology , vol.43 , pp. 2558-2564
    • Nicholson, G.1    Nash, J.2
  • 13
    • 0027221141 scopus 로고
    • Charcot-Marie-Tooth type 1B is associated with mutations of the myelin Po gene
    • Hayasaka K, Himoro M, Sato W, et al. Charcot-Marie-Tooth type 1B is associated with mutations of the myelin Po gene. Nat Genet 1993;5:31-34.
    • (1993) Nat Genet , vol.5 , pp. 31-34
    • Hayasaka, K.1    Himoro, M.2    Sato, W.3
  • 14
    • 0027221142 scopus 로고
    • Deletion of the serine 34 codon from the major peripheral myelin Po gene in Charcot-Marie-Tooth disease type 1B
    • Kulkens T, Bolhuis PA, Wolterman RA, et al. Deletion of the serine 34 codon from the major peripheral myelin Po gene in Charcot-Marie-Tooth disease type 1B. Nat Genet 1993;5: 35-39.
    • (1993) Nat Genet , vol.5 , pp. 35-39
    • Kulkens, T.1    Bolhuis, P.A.2    Wolterman, R.A.3
  • 15
    • 0030051641 scopus 로고    scopus 로고
    • High frequency of mutations in codon 98 of the peripheral myelin protein Po gene in 20 French CMT1 patients
    • Rouger H, LeGuern E, Goudier R, et al. High frequency of mutations in codon 98 of the peripheral myelin protein Po gene in 20 French CMT1 patients. Am J Hum Genet 1996;58: 638-641.
    • (1996) Am J Hum Genet , vol.58 , pp. 638-641
    • Rouger, H.1    LeGuern, E.2    Goudier, R.3
  • 16
    • 16044362374 scopus 로고    scopus 로고
    • Clinical phenotypes of different MPZ (Po) mutations may include Charcot-Marie-Tooth 1B, Dejerine-Sottas and congenital hypomyelination
    • Warner LA, Hilz MJ, Appel SH, et al. Clinical phenotypes of different MPZ (Po) mutations may include Charcot-Marie-Tooth 1B, Dejerine-Sottas and congenital hypomyelination. Neuron 1996;17:451-460.
    • (1996) Neuron , vol.17 , pp. 451-460
    • Warner, L.A.1    Hilz, M.J.2    Appel, S.H.3
  • 17
    • 0030048089 scopus 로고    scopus 로고
    • Myelin protein zero (MPZ) gene mutations in nonduplication type one Charcot-Marie-Tooth disease
    • Roa BB, Warner LE, Garcia CA, et al. Myelin protein zero (MPZ) gene mutations in nonduplication type one Charcot-Marie-Tooth disease. Hum Mutat 1996;7:36-45.
    • (1996) Hum Mutat , vol.7 , pp. 36-45
    • Roa, B.B.1    Warner, L.E.2    Garcia, C.A.3
  • 18
    • 0027772413 scopus 로고
    • Connexin mutations in X-linked Charcot-Marie-Tooth disease
    • Bergoffen J, Scherer SS, Wang S, et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 1993;262: 2039-2042.
    • (1993) Science , vol.262 , pp. 2039-2042
    • Bergoffen, J.1    Scherer, S.S.2    Wang, S.3
  • 19
    • 0029431669 scopus 로고
    • New connexin 32 mutations associated with X-linked Charcot-Marie-Tooth disease
    • Bone LJ, Dahl BA, Lensch BS, et al. New connexin 32 mutations associated with X-linked Charcot-Marie-Tooth disease. Neurology 1995;45:1863-1866.
    • (1995) Neurology , vol.45 , pp. 1863-1866
    • Bone, L.J.1    Dahl, B.A.2    Lensch, B.S.3
  • 20
    • 0027410499 scopus 로고
    • Gap-junctions in the brain: Where, what type, how many and why?
    • Dermietzel R, Spray DC. Gap-junctions in the brain: where, what type, how many and why? Trends Neurosci 1993;16: 186-192.
    • (1993) Trends Neurosci , vol.16 , pp. 186-192
    • Dermietzel, R.1    Spray, D.C.2
  • 21
    • 0030035312 scopus 로고    scopus 로고
    • Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brainstem auditory evoked responses
    • Nicholson G, Corbett A. Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brainstem auditory evoked responses. J Neurol Neurosurg Psychiatry 1996;61:43-46.
    • (1996) J Neurol Neurosurg Psychiatry , vol.61 , pp. 43-46
    • Nicholson, G.1    Corbett, A.2
  • 22
    • 0027723256 scopus 로고    scopus 로고
    • Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families
    • Nicholson G, Nash J. Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Neurology 1996;43:2558-2564.
    • (1996) Neurology , vol.43 , pp. 2558-2564
    • Nicholson, G.1    Nash, J.2
  • 24
    • 0025957379 scopus 로고
    • Constant denaturant gel electrophoresis, a modification of denaturant gradient gel electrophoresis in mutation detection
    • Hovig E, Smith-Sorensen B, Brogger A, Borresen AL. Constant denaturant gel electrophoresis, a modification of denaturant gradient gel electrophoresis in mutation detection. Mutat Res 1991;262:63-71.
    • (1991) Mutat Res , vol.262 , pp. 63-71
    • Hovig, E.1    Smith-Sorensen, B.2    Brogger, A.3    Borresen, A.L.4
  • 25
    • 0023476284 scopus 로고
    • Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis
    • Lerman LS, Silverstein K. Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. Methods Enzymol 1987;155:482-501.
    • (1987) Methods Enzymol , vol.155 , pp. 482-501
    • Lerman, L.S.1    Silverstein, K.2
  • 26
    • 0029151081 scopus 로고
    • Alterations of the TP53 gene as a potential prognostic marker in breast carcinomas. Advantages of using constant denaturant gel electrophoresis in mutation detection
    • Andersen TI, Borrensen AL. Alterations of the TP53 gene as a potential prognostic marker in breast carcinomas. Advantages of using constant denaturant gel electrophoresis in mutation detection. Diagn Mol Pathol 1995;4:203-211.
    • (1995) Diagn Mol Pathol , vol.4 , pp. 203-211
    • Andersen, T.I.1    Borrensen, A.L.2
  • 27
    • 0345695069 scopus 로고    scopus 로고
    • Mutations of the noncoding region of the connexin 32 gene in X-linked Charcot-Marie-Tooth neuropathy
    • Ionasescu VV, Searby C, Ionasescu R, Neuhaus I, Werner R. Mutations of the noncoding region of the connexin 32 gene in X-linked Charcot-Marie-Tooth neuropathy. Neurology 1996; 46:A173.
    • (1996) Neurology , vol.46 A , pp. 173
    • Ionasescu, V.V.1    Searby, C.2    Ionasescu, R.3    Neuhaus, I.4    Werner, R.5
  • 28
    • 0029122798 scopus 로고
    • Asian hereditary neuropathy patients with peripheral myelin protein-22 gene aneuploidy
    • Ohnishi A, Li LY, Fukushima Y, Mori T, 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    Mori, T.4
  • 29
    • 0030896412 scopus 로고    scopus 로고
    • Connexin 32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
    • Janssen EAM, Kemp S, Hensels GW, et al. Connexin 32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Genet 1997;99:501-505.
    • (1997) Hum Genet , vol.99 , pp. 501-505
    • Janssen, E.A.M.1    Kemp, S.2    Hensels, G.W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.