메뉴 건너뛰기




Volumn 17, Issue 3, 2008, Pages 203-213

Charcot-Marie-Tooth disease

Author keywords

Charcot Marie Tooth disease; CMT; Hereditary motor and sensory neuropathy; HMSN

Indexed keywords

ASCORBIC ACID; CONNEXIN 32; MYELIN ASSOCIATED GLYCOPROTEIN; MYELIN BASIC PROTEIN; NEUROFILAMENT PROTEIN; NEUROTROPHIN 3; PERIPHERAL MYELIN PROTEIN 22;

EID: 53849116151     PISSN: 10196099     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (4)

References (84)
  • 2
    • 84882866259 scopus 로고    scopus 로고
    • Shy ME, Lupski JR, Chance P, et al. Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophysiologic, and pathologic features. In: Dyck PJ, Thomas PK, eds. Peripheral Neuropathy, 4rd ed. Philadelphia: Elsevier Saunders, 2005:1094-136.
    • Shy ME, Lupski JR, Chance P, et al. Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophysiologic, and pathologic features. In: Dyck PJ, Thomas PK, eds. Peripheral Neuropathy, 4rd ed. Philadelphia: Elsevier Saunders, 2005:1094-136.
  • 4
    • 0041653190 scopus 로고    scopus 로고
    • Hereditary motor and sensory neuropathies: A biological perspective
    • Shy ME, Garbern JY, Kamholz J. Hereditary motor and sensory neuropathies: a biological perspective. Lancet Neurol 2002;1:110-9.
    • (2002) Lancet Neurol , vol.1 , pp. 110-119
    • Shy, M.E.1    Garbern, J.Y.2    Kamholz, J.3
  • 5
    • 0018222952 scopus 로고    scopus 로고
    • Davis CJ, Bradley WG, Madrid R. The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. J Genet Hum 1978;26:311-49.
    • Davis CJ, Bradley WG, Madrid R. The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. J Genet Hum 1978;26:311-49.
  • 6
    • 0017872262 scopus 로고
    • Clinical and electrodiagnostic features of Charcot-Marie-Tooth syndrome
    • Brust JC, Lovelace RE, Devi S. Clinical and electrodiagnostic features of Charcot-Marie-Tooth syndrome. Acta Neurol Scand 1978;Suppl 68:1-142.
    • (1978) Acta Neurol Scand , Issue.SUPPL. 68 , pp. 1-142
    • Brust, J.C.1    Lovelace, R.E.2    Devi, S.3
  • 7
    • 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
  • 8
    • 0027233374 scopus 로고    scopus 로고
    • Holmberg BH. Charcot-Marie-Tooth's disease in northern Sweden: an epidemiological and clinical study. Acta Neurol Scand 1993;87:416-22.
    • Holmberg BH. Charcot-Marie-Tooth's disease in northern Sweden: an epidemiological and clinical study. Acta Neurol Scand 1993;87:416-22.
  • 9
    • 0027771564 scopus 로고
    • Generalized neuropathy in Taiwan: An etiologic survey
    • Lin KP, Kwan SY, Chen SY, et al. Generalized neuropathy in Taiwan: an etiologic survey. Neuroepidemiology 1993; 12:257-61.
    • (1993) Neuroepidemiology , vol.12 , pp. 257-261
    • Lin, K.P.1    Kwan, S.Y.2    Chen, S.Y.3
  • 10
    • 0030919339 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases
    • Birouk N, Gouider R, Le Guern E, et al. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 1997;120:813-23.
    • (1997) Brain , vol.120 , pp. 813-823
    • Birouk, N.1    Gouider, R.2    Le Guern, E.3
  • 11
    • 0028800889 scopus 로고
    • Charcot-Marie-Tooth disease type 1A: Morphological phenotype of the 17p duplication event versus PMP22 point mutations
    • Gabreels-Festen AA, Bolhuis PA, Hoogendijk JE, et al. Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication event versus PMP22 point mutations. Acta Neuropathol 1995;90:645-9.
    • (1995) Acta Neuropathol , vol.90 , pp. 645-649
    • Gabreels-Festen, A.A.1    Bolhuis, P.A.2    Hoogendijk, J.E.3
  • 12
    • 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;66:219-32.
    • (1991) Cell , vol.66 , pp. 219-232
    • Lupski, J.R.1    de Oca-Luna, R.M.2    Slaugenhaupt, S.3
  • 13
    • 0033554306 scopus 로고    scopus 로고
    • Overview of hereditary neuropathy with liability to pressure palsies
    • Chance PF. Overview of hereditary neuropathy with liability to pressure palsies. Ann N Y Acad Sci 1999;883:14-21.
    • (1999) Ann N Y Acad Sci , vol.883 , pp. 14-21
    • Chance, P.F.1
  • 14
    • 0028851362 scopus 로고
    • Peripheral myelin protein 22: Facts and hypotheses
    • Suter U, Snipes GJ. Peripheral myelin protein 22: facts and hypotheses. J Neurosci Res 1995;40:145-51.
    • (1995) J Neurosci Res , vol.40 , pp. 145-151
    • Suter, U.1    Snipes, G.J.2
  • 15
    • 0031035514 scopus 로고    scopus 로고
    • Underexpression of messager RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies
    • Schenone A, Nobbio L, Mandich P, et al. Underexpression of messager RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies. Neurology 1997;48:445-9.
    • (1997) Neurology , vol.48 , pp. 445-449
    • Schenone, A.1    Nobbio, L.2    Mandich, P.3
  • 16
    • 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; 35:445-50.
    • (1994) Ann Neurol , vol.35 , pp. 445-450
    • Yoshikawa, H.1    Nishimura, T.2    Nakatsuji, Y.3
  • 17
    • 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, et al. 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;49:1635-40.
    • (1997) Neurology , vol.49 , pp. 1635-1640
    • Gabriel, J.M.1    Erne, B.2    Pareyson, D.3
  • 18
    • 15844393894 scopus 로고    scopus 로고
    • A transgenic rat model of Charcot-Marie-Tooth disease
    • Sereda M, Griffiths I, Pühlhofer A, et al. A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 1996; 16:1049-60.
    • (1996) Neuron , vol.16 , pp. 1049-1060
    • Sereda, M.1    Griffiths, I.2    Pühlhofer, A.3
  • 19
    • 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;16:5351-60.
    • (1996) J Neurosci , vol.16 , pp. 5351-5360
    • Magyar, J.P.1    Martini, R.2    Ruelicke, T.3
  • 20
    • 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;2:288-91.
    • (1992) Nat Genet , vol.2 , pp. 288-291
    • Valentijn, L.J.1    Baas, F.2    Wolterman, R.A.3
  • 21
    • 0027486810 scopus 로고
    • Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
    • Roa BB, Dyck PJ, Marks HG, et al. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet 1993;5:269-73.
    • (1993) Nat Genet , vol.5 , pp. 269-273
    • Roa, B.B.1    Dyck, P.J.2    Marks, H.G.3
  • 22
    • 0033039998 scopus 로고    scopus 로고
    • Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22
    • Simonati A, Fabrizi GM, Pasquinelli A, et al. Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22. Neuromuscul Disorder 1999;9:257-61.
    • (1999) Neuromuscul Disorder , vol.9 , pp. 257-261
    • Simonati, A.1    Fabrizi, G.M.2    Pasquinelli, A.3
  • 23
    • 0035859867 scopus 로고    scopus 로고
    • Mutations of peripheral myelin protein 22 result in defective trafficking through mechanisms which may be common to diseases involving tetraspan membrane proteins
    • Sanders CR, Ismail-Beigi F, McEnery MW. Mutations of peripheral myelin protein 22 result in defective trafficking through mechanisms which may be common to diseases involving tetraspan membrane proteins. Biochemistry 2001;40:9453-9.
    • (2001) Biochemistry , vol.40 , pp. 9453-9459
    • Sanders, C.R.1    Ismail-Beigi, F.2    McEnery, M.W.3
  • 26
    • 0027422165 scopus 로고
    • 0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)
    • 0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet 1993;5:266-8.
    • (1993) Nat Genet , vol.5 , pp. 266-268
    • Hayasaka, K.1    Himoro, M.2    Sawaishi, Y.3
  • 27
    • 16044362374 scopus 로고    scopus 로고
    • 0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination
    • 0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 1996;17:451-60.
    • (1996) Neuron , vol.17 , pp. 451-460
    • Warner, L.E.1    Hilz, M.J.2    Appel, S.H.3
  • 28
    • 0031842421 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene
    • Marrosu MG, Vaccargiu S, Marrosu G, et al. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology 1998;50:1397-401.
    • (1998) Neurology , vol.50 , pp. 1397-1401
    • Marrosu, M.G.1    Vaccargiu, S.2    Marrosu, G.3
  • 29
    • 0032810513 scopus 로고    scopus 로고
    • Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy
    • Mastaglia FL, Nowak KJ, Stell R, et al. Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry 1999;67:174-9.
    • (1999) J Neurol Neurosurg Psychiatry , vol.67 , pp. 174-179
    • Mastaglia, F.L.1    Nowak, K.J.2    Stell, R.3
  • 30
    • 0033656848 scopus 로고    scopus 로고
    • Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation
    • Donaghy M, Sisodiya SM, Kennett R, et al. Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation. J Neurol Neurosurg Psychiatry 2000; 69:799-805.
    • (2000) J Neurol Neurosurg Psychiatry , vol.69 , pp. 799-805
    • Donaghy, M.1    Sisodiya, S.M.2    Kennett, R.3
  • 31
    • 10744221158 scopus 로고    scopus 로고
    • Phenotypic clustering in MPZ mutations
    • Shy ME, Jani A, Krajewski K, et al. Phenotypic clustering in MPZ mutations. Brain 2004;127:371-84.
    • (2004) Brain , vol.127 , pp. 371-384
    • Shy, M.E.1    Jani, A.2    Krajewski, K.3
  • 32
    • 0028244197 scopus 로고
    • 0 interacts with negatively charged phospholipid bilayers
    • 0 interacts with negatively charged phospholipid bilayers. J Biol Chem 1994;269:10764-70.
    • (1994) J Biol Chem , vol.269 , pp. 10764-10770
    • Ding, Y.1    Brunden, K.R.2
  • 33
    • 0029797249 scopus 로고    scopus 로고
    • 0 protein truncated in its cytoplasmic domain
    • 0 protein truncated in its cytoplasmic domain. J Cell Biol 1996;134:1531-41.
    • (1996) J Cell Biol , vol.134 , pp. 1531-1541
    • Wong, M.H.1    Filbin, M.T.2
  • 34
    • 0036938636 scopus 로고    scopus 로고
    • Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B
    • Matsuyama W, Nakagawa M, Takashima H, et al. Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B. Acta Neuropathol 2002;103:501-8.
    • (2002) Acta Neuropathol , vol.103 , pp. 501-508
    • Matsuyama, W.1    Nakagawa, M.2    Takashima, H.3
  • 35
    • 38549104064 scopus 로고    scopus 로고
    • MPZ mutation G123S characterization: Evidence for a complex pathogenesis in CMT disease
    • Lee YC, Yu CT, Lin KP, et al. MPZ mutation G123S characterization: evidence for a complex pathogenesis in CMT disease. Neurology 2008;70:273-7.
    • (2008) Neurology , vol.70 , pp. 273-277
    • Lee, Y.C.1    Yu, C.T.2    Lin, K.P.3
  • 37
    • 33645871304 scopus 로고    scopus 로고
    • Myelin protein zero: Mutations in the cytoplasmic domain interfere with its cellular trafficking
    • Konde V, Eichberg J. Myelin protein zero: mutations in the cytoplasmic domain interfere with its cellular trafficking. J Neurosci Res 2006;83:957-64.
    • (2006) J Neurosci Res , vol.83 , pp. 957-964
    • Konde, V.1    Eichberg, J.2
  • 38
    • 0038166038 scopus 로고    scopus 로고
    • 0) mutations associated with Charcot-Marie-Tooth-related disease
    • 0) mutations associated with Charcot-Marie-Tooth-related disease. J Neuropathol Exp Neurol 2003; 62:751-64.
    • (2003) J Neuropathol Exp Neurol , vol.62 , pp. 751-764
    • Shames, I.1    Fraser, A.2    Colby, J.3
  • 39
    • 0028824925 scopus 로고
    • 0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies
    • 0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nat Genet 1995; 11:281-6.
    • (1995) Nat Genet , vol.11 , pp. 281-286
    • Martini, R.1    Zielasek, J.2    Toyka, K.V.3
  • 40
    • 0038157208 scopus 로고    scopus 로고
    • Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyrl45-->Ser)
    • Starr A, Michalewski HJ, Zeng FG, et al. Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyrl45-->Ser). Brain 2003;126:1604-19.
    • (2003) Brain , vol.126 , pp. 1604-1619
    • Starr, A.1    Michalewski, H.J.2    Zeng, F.G.3
  • 41
    • 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; 64:1580-93.
    • (1999) Am J Hum Genet , vol.64 , pp. 1580-1593
    • Kovach, M.J.1    Lin, J.P.2    Boyadjiev, S.3
  • 42
    • 0037432064 scopus 로고    scopus 로고
    • Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene
    • Sambuughin N, de Bantel A, McWilliams S, et al. Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene. Neurology 2003;60:506-8.
    • (2003) Neurology , vol.60 , pp. 506-508
    • Sambuughin, N.1    de Bantel, A.2    McWilliams, S.3
  • 43
    • 0037435540 scopus 로고    scopus 로고
    • Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C
    • Street VA, Bennett CL, Goldy JD, et al. Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology 2003;60:22-6.
    • (2003) Neurology , vol.60 , pp. 22-26
    • Street, V.A.1    Bennett, C.L.2    Goldy, J.D.3
  • 44
    • 0033551235 scopus 로고    scopus 로고
    • A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: Molecular cloning, sequencing, characterization, and chromosomal assignment
    • Myokai F, Takashiba S, Lebo R, et al. A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: molecular cloning, sequencing, characterization, and chromosomal assignment. Proc Natl Acad Sci USA 1999;96:4518-23.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 4518-4523
    • Myokai, F.1    Takashiba, S.2    Lebo, R.3
  • 45
    • 0031943222 scopus 로고    scopus 로고
    • Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
    • Warner LE, Mancias P, Butler IJ, et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 1998;18:382-4.
    • (1998) Nat Genet , vol.18 , pp. 382-384
    • Warner, L.E.1    Mancias, P.2    Butler, I.J.3
  • 46
    • 0034981923 scopus 로고    scopus 로고
    • EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression
    • Nagarajan R, Svaren J, Le N, et al. EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression. Neuron 2001;30:355-68.
    • (2001) Neuron , vol.30 , pp. 355-368
    • Nagarajan, R.1    Svaren, J.2    Le, N.3
  • 47
    • 0033015744 scopus 로고    scopus 로고
    • Novel mis-sense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype
    • Timmerman V, De Jonghe P, Ceuterick C, et al. Novel mis-sense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology 1999;52:1827-32.
    • (1999) Neurology , vol.52 , pp. 1827-1832
    • Timmerman, V.1    De Jonghe, P.2    Ceuterick, C.3
  • 48
    • 0027984497 scopus 로고
    • Krox-20 controls myelination in the peripheral nervous system
    • Topilko P, Schneider-Maunoury S, Levi G, et al. Krox-20 controls myelination in the peripheral nervous system. Nature 1994;371:796-9.
    • (1994) Nature , vol.371 , pp. 796-799
    • Topilko, P.1    Schneider-Maunoury, S.2    Levi, G.3
  • 49
    • 0033911099 scopus 로고    scopus 로고
    • A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
    • Mersiyanova IV, Perepelov AV, Polyakov AV, et al. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet 2000;67:37-46.
    • (2000) Am J Hum Genet , vol.67 , pp. 37-46
    • Mersiyanova, I.V.1    Perepelov, A.V.2    Polyakov, A.V.3
  • 50
    • 0037370894 scopus 로고    scopus 로고
    • Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease
    • Jordanova A, De Jonghe P, Boerkoel CF, et al. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 2003; 126:590-7.
    • (2003) Brain , vol.126 , pp. 590-597
    • Jordanova, A.1    De Jonghe, P.2    Boerkoel, C.F.3
  • 51
    • 5444267945 scopus 로고    scopus 로고
    • Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models
    • Perez-Olle R, Jones ST, Liem RK. Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models. Hum Mol Genet 2004;13:2207-20.
    • (2004) Hum Mol Genet , vol.13 , pp. 2207-2220
    • Perez-Olle, R.1    Jones, S.T.2    Liem, R.K.3
  • 52
    • 0034576145 scopus 로고    scopus 로고
    • Electrophysiological properties of axons in mice lacking neurofilament subunit genes: Disparity between conduction velocity and axon diameter in absence of NF-H
    • Kriz J, Zhu Q, Julien JP, et al. Electrophysiological properties of axons in mice lacking neurofilament subunit genes: disparity between conduction velocity and axon diameter in absence of NF-H. Brain Res 2000;885:32-44.
    • (2000) Brain Res , vol.885 , pp. 32-44
    • Kriz, J.1    Zhu, Q.2    Julien, J.P.3
  • 53
    • 0031263931 scopus 로고    scopus 로고
    • Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments
    • Zhu Q, Couillard-Despres S, Julien JP. Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments. Exp Neurol 1997;148:299-316.
    • (1997) Exp Neurol , vol.148 , pp. 299-316
    • Zhu, Q.1    Couillard-Despres, S.2    Julien, J.P.3
  • 54
    • 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; 262:2039-42.
    • (1993) Science , vol.262 , pp. 2039-2042
    • Bergoffen, J.1    Scherer, S.S.2    Wang, S.3
  • 55
    • 53849091960 scopus 로고    scopus 로고
    • Scherer SS, Kleopa KA. X-linked Charcot-Marie-Tooth diease. In: Dyck PJ, Thomas PK, eds. Peripheral Neuropathy, 4rd ed. Philadelphia: Elsevier Saunders, 2005: 1094-36.
    • Scherer SS, Kleopa KA. X-linked Charcot-Marie-Tooth diease. In: Dyck PJ, Thomas PK, eds. Peripheral Neuropathy, 4rd ed. Philadelphia: Elsevier Saunders, 2005: 1094-36.
  • 56
    • 0030028301 scopus 로고    scopus 로고
    • The gap junction communication channel
    • Kumar NM, Gilula NB. The gap junction communication channel. Cell 1996;84:381-8.
    • (1996) Cell , vol.84 , pp. 381-388
    • Kumar, N.M.1    Gilula, N.B.2
  • 57
    • 33646198169 scopus 로고    scopus 로고
    • Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X
    • Kleopa KA, Zamba-Papanicolaou E, Alevra X, et al. Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X. Neurology 2006;66:396-402.
    • (2006) Neurology , vol.66 , pp. 396-402
    • Kleopa, K.A.1    Zamba-Papanicolaou, E.2    Alevra, X.3
  • 58
    • 33747232467 scopus 로고    scopus 로고
    • Mutation frequency for Charocot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients
    • Song S, Zhang Y, Chen B, et al. Mutation frequency for Charocot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients. Genet Med 2006;8:532-5.
    • (2006) Genet Med , vol.8 , pp. 532-535
    • Song, S.1    Zhang, Y.2    Chen, B.3
  • 59
    • 33747114287 scopus 로고    scopus 로고
    • Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1
    • Park HK, Kim BJ, Sung DH, et al. Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1. Clin Genet 2006;70:253-6.
    • (2006) Clin Genet , vol.70 , pp. 253-256
    • Park, H.K.1    Kim, B.J.2    Sung, D.H.3
  • 60
    • 0037962923 scopus 로고    scopus 로고
    • Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1
    • Numakura C, Shirahata E, Yamashita S, et al. Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1. J Neurol Sci 2003; 210:61-4.
    • (2003) J Neurol Sci , vol.210 , pp. 61-64
    • Numakura, C.1    Shirahata, E.2    Yamashita, S.3
  • 61
    • 0034960303 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease type 1 and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families
    • Mostacciuolo ML, Righetti E, Zortea M, et al. Charcot-Marie-Tooth disease type 1 and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families. Hum Mutat 2001;18:32-41.
    • (2001) Hum Mutat , vol.18 , pp. 32-41
    • Mostacciuolo, M.L.1    Righetti, E.2    Zortea, M.3
  • 62
    • 0034032649 scopus 로고    scopus 로고
    • Screening for mutations in the peripheral myelin genes PMP22, MPZ and CX32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients
    • Mersiyanova IV, Ismailov SM, Polyakov AV, et al. Screening for mutations in the peripheral myelin genes PMP22, MPZ and CX32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. Hum Mutat 2000;15:340-7.
    • (2000) Hum Mutat , vol.15 , pp. 340-347
    • Mersiyanova, I.V.1    Ismailov, S.M.2    Polyakov, A.V.3
  • 63
    • 0027374931 scopus 로고
    • Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A 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 CMT1A duplication. Am J Hum Genet 1993:53:853-63.
    • (1993) Am J Hum Genet , vol.53 , pp. 853-863
    • Wise, C.A.1    Garcia, C.A.2    Davis, S.N.3
  • 64
    • 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;66:219-32.
    • (1991) Cell , vol.66 , pp. 219-232
    • Lupski, J.R.1    de Oca-Luna, R.M.2    Slaugenhaupt, S.3
  • 65
    • 0031004203 scopus 로고    scopus 로고
    • Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory
    • Shaffer LG, Kennedy GM, Spikes AS, et al. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am J Med Genet 1997;69:325-31.
    • (1997) Am J Med Genet , vol.69 , pp. 325-331
    • Shaffer, L.G.1    Kennedy, G.M.2    Spikes, A.S.3
  • 66
    • 0031934502 scopus 로고    scopus 로고
    • Rapid detection of a recombinant hotspot associated with Charcot-Marie-Tooth disease type 1A 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 1A duplication by a PCR-based DNA test. Clin Chem 1998;44:270-4.
    • (1998) Clin Chem , vol.44 , pp. 270-274
    • Chang, J.G.1    Jong, Y.J.2    Wang, W.P.3
  • 67
    • 0035051016 scopus 로고    scopus 로고
    • Polymorphic short tandem repeats for diagnosis of the Charcot-Marie-Tooth 1A duplication
    • Latour P, Boutrand L, Levy N, et al. Polymorphic short tandem repeats for diagnosis of the Charcot-Marie-Tooth 1A duplication. Clin Chem 2001;47:829-37.
    • (2001) Clin Chem , vol.47 , pp. 829-837
    • Latour, P.1    Boutrand, L.2    Levy, N.3
  • 68
    • 0037299356 scopus 로고    scopus 로고
    • A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP
    • Thiel CT, Kraus C, Rauch A, et al. A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. Eur J Hum Genet 2002;11:170-8.
    • (2002) Eur J Hum Genet , vol.11 , pp. 170-178
    • Thiel, C.T.1    Kraus, C.2    Rauch, A.3
  • 69
    • 0033753540 scopus 로고    scopus 로고
    • Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR
    • Wilke K, Duman B, Horst J. Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR. Hum Mutat 2000;16:431-6.
    • (2000) Hum Mutat , vol.16 , pp. 431-436
    • Wilke, K.1    Duman, B.2    Horst, J.3
  • 70
    • 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 hereditary neuropathy with liability to pressure palsies
    • Aarskog NK, Vedeler CA. 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 hereditary neuropathy with liability to pressure palsies. Hum Genet 2000;107:494-8.
    • (2000) Hum Genet , vol.107 , pp. 494-498
    • Aarskog, N.K.1    Vedeler, C.A.2
  • 71
    • 3442885372 scopus 로고    scopus 로고
    • Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: Comparison with the interphase FISH method
    • Slater H, Bruno D, Ren H, et al. Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method. Hum Mutat 2004;24:164-71.
    • (2004) Hum Mutat , vol.24 , pp. 164-171
    • Slater, H.1    Bruno, D.2    Ren, H.3
  • 72
    • 3042697003 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease type 1A: A clinical, electrophysiological, pathological, and genetic study
    • Hsieh SY, Kuo HC, Chu CC, et al. Charcot-Marie-Tooth disease type 1A: a clinical, electrophysiological, pathological, and genetic study. Chang Gung Med J 2004;27:300-6.
    • (2004) Chang Gung Med J , vol.27 , pp. 300-306
    • Hsieh, S.Y.1    Kuo, H.C.2    Chu, C.C.3
  • 73
    • 16244422602 scopus 로고    scopus 로고
    • Hereditary neuropathy with liability to pressure palsies: A clinical and genetic study of a Taiwanese family
    • Tsai YT, Kuo HC, Chu CC, et al. Hereditary neuropathy with liability to pressure palsies: a clinical and genetic study of a Taiwanese family. Chang Gung Med J 2005;28: 56-63.
    • (2005) Chang Gung Med J , vol.28 , pp. 56-63
    • Tsai, Y.T.1    Kuo, H.C.2    Chu, C.C.3
  • 74
    • 33644559384 scopus 로고    scopus 로고
    • Allele-specific all-or-none PCR product diagnostic strategy for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies
    • Lin KP, Chou CH, Lee HY, et al. Allele-specific all-or-none PCR product diagnostic strategy for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies. J Chin Med Assoc 2006;69:68-73.
    • (2006) J Chin Med Assoc , vol.69 , pp. 68-73
    • Lin, K.P.1    Chou, C.H.2    Lee, H.Y.3
  • 75
    • 33645227238 scopus 로고    scopus 로고
    • A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay
    • Lin CY, Su YN, Lee CN, et al. A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay. J Hum Genet 2006;51:227-35.
    • (2006) J Hum Genet , vol.51 , pp. 227-235
    • Lin, C.Y.1    Su, Y.N.2    Lee, C.N.3
  • 76
    • 39449091574 scopus 로고    scopus 로고
    • Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: A comparison
    • Hung CC, Lee CN, Lin CY, et al. Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: a comparison. Electrophoresis 2008;29:618-25.
    • (2008) Electrophoresis , vol.29 , pp. 618-625
    • Hung, C.C.1    Lee, C.N.2    Lin, C.Y.3
  • 77
    • 43049159672 scopus 로고    scopus 로고
    • Comparison of two PCR-based molecular methods in the diagnosis of CMT1A and HNPP disease in Chinese
    • Chen SR, Lin KP, Kuo HC, et al. Comparison of two PCR-based molecular methods in the diagnosis of CMT1A and HNPP disease in Chinese. Clin Neurol Neurosurg 2008; 110:466-71.
    • (2008) Clin Neurol Neurosurg , vol.110 , pp. 466-471
    • Chen, S.R.1    Lin, K.P.2    Kuo, H.C.3
  • 78
    • 0034738077 scopus 로고    scopus 로고
    • Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene
    • Wang HL, Wu T, Chang WT, et al. Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene. Brain Res Mol Brain Res 2000;78:146-53.
    • (2000) Brain Res Mol Brain Res , vol.78 , pp. 146-153
    • Wang, H.L.1    Wu, T.2    Chang, W.T.3
  • 79
    • 4544378783 scopus 로고    scopus 로고
    • Clinical and electrophysiological studies of a family with probable X-linked dominant Charcot-Marie-Tooth neuropathy and ptosis
    • Wu T, Wang HL, Chu CC, et al. Clinical and electrophysiological studies of a family with probable X-linked dominant Charcot-Marie-Tooth neuropathy and ptosis. Chang Gung Med J 2004;27:489-500.
    • (2004) Chang Gung Med J , vol.27 , pp. 489-500
    • Wu, T.1    Wang, H.L.2    Chu, C.C.3
  • 80
    • 1542270715 scopus 로고    scopus 로고
    • Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease
    • Wang HL, Chang WT, Yeh TH, et al. Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease. Neurobiol Dis 2004;15:361-70.
    • (2004) Neurobiol Dis , vol.15 , pp. 361-370
    • Wang, H.L.1    Chang, W.T.2    Yeh, T.H.3
  • 81
    • 1642487855 scopus 로고    scopus 로고
    • Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1
    • Lee YC, Soong BW, Lin KP, et al. Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1. J Neurol Sci 2004;219:95-100.
    • (2004) J Neurol Sci , vol.219 , pp. 95-100
    • Lee, Y.C.1    Soong, B.W.2    Lin, K.P.3
  • 82
    • 15244344963 scopus 로고    scopus 로고
    • Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation
    • Lee YC, Soong BW, Liu YT, et al. Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation. J Neurol 2005;252:151-5.
    • (2005) J Neurol , vol.252 , pp. 151-155
    • Lee, Y.C.1    Soong, B.W.2    Liu, Y.T.3
  • 83
    • 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
  • 84
    • 24644446342 scopus 로고    scopus 로고
    • NT-3 promotes nerve regenerations and sensory improvement in CMT1A mouse models and in patients
    • Sahenk Z, Nagaraja HN, McCracken BS, et al. NT-3 promotes nerve regenerations and sensory improvement in CMT1A mouse models and in patients. Neurology 2005; 65:681-9.
    • (2005) Neurology , vol.65 , pp. 681-689
    • Sahenk, Z.1    Nagaraja, H.N.2    McCracken, B.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.