메뉴 건너뛰기




Volumn 62, Issue 7, 2003, Pages 699-714

Dominantly inherited peripheral neuropathies

Author keywords

Charcot Marie Tooth; Hereditary sensory motor neuropathy; Peripheral neuropathy

Indexed keywords

AUTOSOMAL DISORDER; AUTOSOMAL DOMINANT DISORDER; CHARCOT MARIE TOOTH DISEASE 1; CHARCOT MARIE TOOTH DISEASE 1A; CHARCOT MARIE TOOTH DISEASE 1B; CHARCOT MARIE TOOTH DISEASE 2; CHARCOT MARIE TOOTH DISEASE X; DEMYELINATION; DISEASE CLASSIFICATION; DISEASE TRANSMISSION; DNA DETERMINATION; DOMINANT INHERITANCE; ELECTROPHYSIOLOGY; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSY; HUMAN; MOLECULAR BIOLOGY; NERVE BIOPSY; NERVE FIBER DEGENERATION; NEUROPATHY; PATHOPHYSIOLOGY; PERIPHERAL NERVOUS SYSTEM; PERIPHERAL NEUROPATHY; PREVALENCE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; REVIEW; X CHROMOSOME LINKED DISORDER;

EID: 0038504662     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1093/jnen/62.7.699     Document Type: Review
Times cited : (36)

References (80)
  • 1
    • 0002896804 scopus 로고
    • Sur une forme particulière d'atrophie musculaire progressive, souvent familiale, débutant par les pieds et les jambes et atteignant plus tard les mains
    • Charcot JM, Marie P. Sur une forme particulière d'atrophie musculaire progressive, souvent familiale, débutant par les pieds et les jambes et atteignant plus tard les mains. Rev Neurol 1886;6:97-138
    • (1886) Rev Neurol , vol.6 , pp. 97-138
    • Charcot, J.M.1    Marie, P.2
  • 4
    • 77957213144 scopus 로고
    • Extreme slowing of nerve conduction in peroneal muscular atrophy
    • Gilliatt RW, Thomas PK. Extreme slowing of nerve conduction in peroneal muscular atrophy. Ann Phys Med 1957;15:104-7
    • (1957) Ann Phys Med , vol.15 , pp. 104-107
    • Gilliatt, R.W.1    Thomas, P.K.2
  • 5
    • 0014301249 scopus 로고
    • Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiological findings in hereditary polyneuropathies
    • Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiological findings in hereditary polyneuropathies. Arch Neurol 1968;18:603-18
    • (1968) Arch Neurol , vol.18 , pp. 603-618
    • Dyck, P.J.1    Lambert, E.H.2
  • 6
    • 0014301112 scopus 로고
    • Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiological findings in various neuronal degenerations
    • Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiological findings in various neuronal degenerations. Arch Neurol 1968;18:619-25
    • (1968) Arch Neurol , vol.18 , pp. 619-625
    • Dyck, P.J.1    Lambert, E.H.2
  • 7
    • 0016172719 scopus 로고
    • Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy)
    • Thomas PK, Calne DB, Steward G. Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy). Ann Hum Genet 1974;38:111-53
    • (1974) Ann Hum Genet , vol.38 , pp. 111-153
    • Thomas, P.K.1    Calne, D.B.2    Steward, G.3
  • 8
    • 0037211466 scopus 로고    scopus 로고
    • The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene
    • Chaouch M, Allal Y, De Sandre-Giovannoli A, et al. The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene. Neuromuscul Disord 2003;13:60-67
    • (2003) Neuromuscul Disord , vol.13 , pp. 60-67
    • Chaouch, M.1    Allal, Y.2    De Sandre-Giovannoli, A.3
  • 9
    • 0036157054 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation
    • Boerkoel CF, Takashima H, Garcia CA, et al. Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation. Ann Neurol 2002;51:190-201
    • (2002) Ann Neurol , vol.51 , pp. 190-201
    • Boerkoel, C.F.1    Takashima, H.2    Garcia, C.A.3
  • 10
    • 0018942439 scopus 로고
    • The clinical features of hereditary motor and sensory neuropathy types I and II
    • Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980;103:259-80
    • (1980) Brain , vol.103 , pp. 259-280
    • Harding, A.E.1    Thomas, P.K.2
  • 11
    • 0033554313 scopus 로고    scopus 로고
    • Electrophysiologic features of inherited demyelinating neuropathies: A reappraisal
    • Lewis RA, Sumner AJ. Electrophysiologic features of inherited demyelinating neuropathies: A reappraisal. Ann N Y Acad Sci 1999:883:321-35
    • (1999) Ann N Y Acad Sci , vol.883 , pp. 321-335
    • Lewis, R.A.1    Sumner, A.J.2
  • 12
    • 0028917680 scopus 로고
    • Muscle and intramuscular nerve pathology in congenital hypomyelination neuropathy
    • Nara T, Akashi M, Nonaka I, et al. Muscle and intramuscular nerve pathology in congenital hypomyelination neuropathy. J Neurol Sci 1995;129:170-74
    • (1995) J Neurol Sci , vol.129 , pp. 170-174
    • Nara, T.1    Akashi, M.2    Nonaka, I.3
  • 16
    • 0034065232 scopus 로고    scopus 로고
    • On the molecular architecture of myelinated fibers
    • Arroyo EJ, Scherer SS. On the molecular architecture of myelinated fibers. Histochem Cell Biol 2000;131:1-18
    • (2000) Histochem Cell Biol , vol.131 , pp. 1-18
    • Arroyo, E.J.1    Scherer, S.S.2
  • 17
    • 0025868571 scopus 로고
    • DNA duplication associated with Charcot-Marie-Tooth disease type 1A
    • Lupski JM, 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.M.1    De Oca-Luna, R.M.2    Slaugenhaupt, S.3
  • 18
    • 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;39:813-17
    • (1996) Ann Neurol , vol.39 , pp. 813-817
    • Vallat, J.M.1    Sindou, P.2    Preux, P.M.3
  • 19
    • 0029908245 scopus 로고    scopus 로고
    • Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A
    • Nishimura T, Yoshikawa H, Fujimura H, Sakoda S, Yanagihara T. Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A. Acta Neuropathol 1996;92:454-60
    • (1996) Acta Neuropathol , vol.92 , pp. 454-460
    • Nishimura, T.1    Yoshikawa, H.2    Fujimura, H.3    Sakoda, S.4    Yanagihara, T.5
  • 20
    • 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
  • 21
    • 0032840812 scopus 로고    scopus 로고
    • Expression of myelin proteins in the adult heterozygous Trembler mouse
    • Vallat JM, Sindou P, Garbay B, et al. Expression of myelin proteins in the adult heterozygous Trembler mouse. Acta Neuropathol 1999;98:281-87
    • (1999) Acta Neuropathol , vol.98 , pp. 281-287
    • Vallat, J.M.1    Sindou, P.2    Garbay, B.3
  • 22
    • 0031972929 scopus 로고    scopus 로고
    • Overloaded endoplasmic reticulum-golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22
    • D'Urso D, Prior R, Greiner-Petter R, Gabreëls-Festen AAWM, Mueller HW. Overloaded endoplasmic reticulum-golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22. J Neurosci 1998;18:731-40
    • (1998) J Neurosci , vol.18 , pp. 731-740
    • D'Urso, D.1    Prior, R.2    Greiner-Petter, R.3    Gabreëls-Festen, A.A.W.M.4    Mueller, H.W.5
  • 23
    • 0033134949 scopus 로고    scopus 로고
    • Peripheral myelin protein 22 and protein zero: A novel association in peripheral nervous system myelin
    • D'Urso D, Ehrhardt P, Müller HW. Peripheral myelin protein 22 and protein zero: A novel association in peripheral nervous system myelin. J Neurosci 1999;19:3396-3403
    • (1999) J Neurosci , vol.19 , pp. 3396-3403
    • D'Urso, D.1    Ehrhardt, P.2    Müller, H.W.3
  • 24
    • 0031799468 scopus 로고    scopus 로고
    • Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: A cross-sectional morphometric and immunohistochemical study in twenty cases
    • Fabrizi GM, Simonati A, Morbin M, et al. Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: A cross-sectional morphometric and immunohistochemical study in twenty cases. Muscle Nerve 1998;21:869-77
    • (1998) Muscle Nerve , vol.21 , pp. 869-877
    • Fabrizi, G.M.1    Simonati, A.2    Morbin, M.3
  • 26
    • 0032948050 scopus 로고    scopus 로고
    • Effects of PMP22 duplication and deletions on the axonal cytoskeleton
    • Sahenk Z, Chen L, Mendell JR. Effects of PMP22 duplication and deletions on the axonal cytoskeleton. Ann Neurol 1999;45:16-24
    • (1999) Ann Neurol , vol.45 , pp. 16-24
    • Sahenk, Z.1    Chen, L.2    Mendell, J.R.3
  • 27
    • 0033963592 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease type 1: Molecular pathogenesis to gene therapy
    • Kamholz J, Menichella D, Jani A, et al. Charcot-Marie-Tooth disease type 1: Molecular pathogenesis to gene therapy. Brain 2000;123:222-33
    • (2000) Brain , vol.123 , pp. 222-233
    • Kamholz, J.1    Menichella, D.2    Jani, A.3
  • 28
    • 0030946228 scopus 로고    scopus 로고
    • Unexpected recovery in a newborn with severe hypomyelinating neuropathy
    • Levy BK, Fenton GA, Loaiza S, Hayat GR. Unexpected recovery in a newborn with severe hypomyelinating neuropathy. Pediatr Neurol 1997;16:245-48
    • (1997) Pediatr Neurol , vol.16 , pp. 245-248
    • Levy, B.K.1    Fenton, G.A.2    Loaiza, S.3    Hayat, G.R.4
  • 29
    • 0031041086 scopus 로고    scopus 로고
    • Congenital hypomyelinating neuropathy: A reversible case
    • Ghamdi M, Armstrong DL, Miller G. Congenital hypomyelinating neuropathy: A reversible case. Pediatr Neurol 1997;16:71-73
    • (1997) Pediatr Neurol , vol.16 , pp. 71-73
    • Ghamdi, M.1    Armstrong, D.L.2    Miller, G.3
  • 30
    • 0020073371 scopus 로고
    • Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1
    • Bird TD, Ott J, Giblett ER. Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Gen 1982;34:388-94
    • (1982) Am J Hum Gen , vol.34 , pp. 388-394
    • Bird, T.D.1    Ott, J.2    Giblett, E.R.3
  • 31
    • 0030993366 scopus 로고    scopus 로고
    • Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: A 20-year study
    • Bird TD, Kraft GH, Lipe HP, Kenney KL, Sumi SM. Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: A 20-year study. Ann Neurol 1997;41:463-69
    • (1997) Ann Neurol , vol.41 , pp. 463-469
    • Bird, T.D.1    Kraft, G.H.2    Lipe, H.P.3    Kenney, K.L.4    Sumi, S.M.5
  • 33
    • 0034660338 scopus 로고    scopus 로고
    • Absence of PO leads to the dysregulation of myelin gene expression and myelin morphogenesis
    • Xu W, Manichella D, Jiang H. Absence of PO leads to the dysregulation of myelin gene expression and myelin morphogenesis. J Neurosci Res 2000;60:714-24
    • (2000) J Neurosci Res , vol.60 , pp. 714-724
    • Xu, W.1    Manichella, D.2    Jiang, H.3
  • 34
    • 18344403570 scopus 로고    scopus 로고
    • Ultrastructural protein zero expression in Charcot-Marie-Tooth type 1B disease
    • Sindou P, Vallat JM, Chapon F. Ultrastructural protein zero expression in Charcot-Marie-Tooth type 1B disease. Muscle Nerve 1999;22:99-104
    • (1999) Muscle Nerve , vol.22 , pp. 99-104
    • Sindou, P.1    Vallat, J.M.2    Chapon, F.3
  • 35
    • 0041114444 scopus 로고    scopus 로고
    • Two divergent types of nerve pathology in patients with different PO mutations in Charcot-Marie-Tooth disease
    • Gabreëls-Festen AAWM, Hoogendijk JE, Meijerink PHS, et al. Two divergent types of nerve pathology in patients with different PO mutations in Charcot-Marie-Tooth disease. Neurology 1996;47: 761-65
    • (1996) Neurology , vol.47 , pp. 761-765
    • Gabreëls-Festen, A.A.W.M.1    Hoogendijk, J.E.2    Meijerink, P.H.S.3
  • 36
    • 0032857452 scopus 로고    scopus 로고
    • Peripheral myelin modification in CMT 1B correlates with MPZ gene mutations
    • Lagueny A, Latour P, Vital A, et al. Peripheral myelin modification in CMT 1B correlates with MPZ gene mutations. Neuromusc Dis 1999;9:361-67
    • (1999) Neuromusc Dis , vol.9 , pp. 361-367
    • Lagueny, A.1    Latour, P.2    Vital, A.3
  • 37
    • 0028069302 scopus 로고
    • Uncompacted myelin lamellae in polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes syndrome. Ultrastructural study of peripheral nerve biopsy from 22 patients
    • Vital C, Gherardi R, Vital A, et al. Uncompacted myelin lamellae in polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes syndrome. Ultrastructural study of peripheral nerve biopsy from 22 patients. Acta Neuropathol 1994;87:302-7
    • (1994) Acta Neuropathol , vol.87 , pp. 302-307
    • Vital, C.1    Gherardi, R.2    Vital, A.3
  • 39
    • 0028079552 scopus 로고
    • Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome
    • Thomas FP, Lebo RV, Rosoklija G, et al. Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome. Acta Neuropathol 1994;87:91-97
    • (1994) Acta Neuropathol , vol.87 , pp. 91-97
    • Thomas, F.P.1    Lebo, R.V.2    Rosoklija, G.3
  • 42
    • 0027504559 scopus 로고
    • Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex
    • Umehara F, Takenaga S, Nakagawa M, et al. Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex. Acta Neuropathol 1993;86:602-8
    • (1993) Acta Neuropathol , vol.86 , pp. 602-608
    • Umehara, F.1    Takenaga, S.2    Nakagawa, M.3
  • 43
    • 0032947668 scopus 로고    scopus 로고
    • A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths
    • Nakagawa M, Suehara M, Saito A, et al. A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths. Neurology 1999;52:1271-75
    • (1999) Neurology , vol.52 , pp. 1271-1275
    • Nakagawa, M.1    Suehara, M.2    Saito, A.3
  • 45
    • 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;60:22-26
    • (2003) Neurology , vol.60 , pp. 22-26
    • Street, V.A.1    Bennett, C.L.2    Goldy, J.D.3
  • 46
    • 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;18:382-84
    • (1998) Nat Genet , vol.18 , pp. 382-384
    • Warner, L.E.1    Mancias, P.2    Butler, I.J.3
  • 48
    • 0036789828 scopus 로고    scopus 로고
    • Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease
    • Paulson HL, Garbern JY, Hoban TF, et al. Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. Ann Neurol 2002;52:429-34
    • (2002) Ann Neurol , vol.52 , pp. 429-434
    • Paulson, H.L.1    Garbern, J.Y.2    Hoban, T.F.3
  • 50
    • 0035145831 scopus 로고    scopus 로고
    • Pathological findings in the X-linked form of Charcot-Marie-Tooth disease: A morphometric and ultrastructural analysis
    • Hahn AF, Ainsworth PJ, Bolton CF, Bilbao JM, Vallat JM. Pathological findings in the X-linked form of Charcot-Marie-Tooth disease: A morphometric and ultrastructural analysis. Acta Neuropathol 2001;101:129-39
    • (2001) Acta Neuropathol , vol.101 , pp. 129-139
    • Hahn, A.F.1    Ainsworth, P.J.2    Bolton, C.F.3    Bilbao, J.M.4    Vallat, J.M.5
  • 51
    • 12244278266 scopus 로고    scopus 로고
    • Phenotypic expression of a Pro 87 to Leu mutation in the connexine 32 gene in a large Swiss family with Charcot-Marie-Tooth neuropathy
    • in press
    • Kuntzer T, Dunand M, Schorderet DF, Vallat JM, Hahn AF, Bogousslavsky J. Phenotypic expression of a Pro 87 to Leu mutation in the connexine 32 gene in a large Swiss family with Charcot-Marie-Tooth neuropathy. J Neurol Sci 2003; in press.
    • (2003) J Neurol Sci
    • Kuntzer, T.1    Dunand, M.2    Schorderet, D.F.3    Vallat, J.M.4    Hahn, A.F.5    Bogousslavsky, J.6
  • 52
    • 0032812156 scopus 로고    scopus 로고
    • X-linked dominant Charcot-Marie-Tooth neuropathy: Clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations
    • Senderek J, Hermanns B, Bergmann C, et al. X-linked dominant Charcot-Marie-Tooth neuropathy: Clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations. J Neurol Sci 1999;167:90-101
    • (1999) J Neurol Sci , vol.167 , pp. 90-101
    • Senderek, J.1    Hermanns, B.2    Bergmann, C.3
  • 53
    • 0034963370 scopus 로고    scopus 로고
    • Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin 32 mutations
    • Vital A, Ferrer X, Lagueny A, et al. Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin 32 mutations. J Periph Nerv Syst 2001;6:79-84
    • (2001) J Periph Nerv Syst , vol.6 , pp. 79-84
    • Vital, A.1    Ferrer, X.2    Lagueny, A.3
  • 54
  • 56
    • 0023254209 scopus 로고
    • Hereditary motor and sensory neuropathy X-linked: A half century follow up
    • Rozear MP, Pericak-Vance MA, Fischbeck K, et al. Hereditary motor and sensory neuropathy X-linked: A half century follow up. Neurology 1987;37:1460-65
    • (1987) Neurology , vol.37 , pp. 1460-1465
    • Rozear, M.P.1    Pericak-Vance, M.A.2    Fischbeck, K.3
  • 57
    • 0027270107 scopus 로고
    • Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN
    • Hahn AF. Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN. Brain Pathol 1993;3:147-55
    • (1993) Brain Pathol , vol.3 , pp. 147-155
    • Hahn, A.F.1
  • 59
    • 0027317609 scopus 로고
    • Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity
    • Ben Othmane K, Middleton LT, Loprest LJ, et al. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics 1993;17:370-75
    • (1993) Genomics , vol.17 , pp. 370-375
    • Ben Othmane, K.1    Middleton, L.T.2    Loprest, L.J.3
  • 60
    • 0035369084 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bβ
    • Zhao C, Takita J, Tanaka Y, et al. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bβ. Cell 2001; 105:587-97
    • (2001) Cell , vol.105 , pp. 587-597
    • Zhao, C.1    Takita, J.2    Tanaka, Y.3
  • 61
    • 0031470266 scopus 로고    scopus 로고
    • Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A
    • Saito M, Hayashi Y, Suzuki T, Tanaka H, Hozumi I, Tsuji S. Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. Neurology 1997;49:1630-35
    • (1997) Neurology , vol.49 , pp. 1630-1635
    • Saito, M.1    Hayashi, Y.2    Suzuki, T.3    Tanaka, H.4    Hozumi, I.5    Tsuji, S.6
  • 62
    • 0035830380 scopus 로고    scopus 로고
    • Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy
    • Muglia M, Zappia M, Timmerman V, et al. Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy. Neurology 2001;56:100-103
    • (2001) Neurology , vol.56 , pp. 100-103
    • Muglia, M.1    Zappia, M.2    Timmerman, V.3
  • 63
    • 0029150128 scopus 로고
    • Assignement of a second Charcot-Marie-Tooth type II locus to chromosome 3q
    • Kwon JM, Elliott JL, Yee WC, et al. Assignement of a second Charcot-Marie-Tooth type II locus to chromosome 3q. Am J Hum Genet 1995;57:853-58
    • (1995) Am J Hum Genet , vol.57 , pp. 853-858
    • Kwon, J.M.1    Elliott, J.L.2    Yee, W.C.3
  • 65
    • 0037371509 scopus 로고    scopus 로고
    • Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy
    • Verhoeven K, De Jonghe P, Coen K, et al. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet 2003;72:722-27
    • (2003) Am J Hum Genet , vol.72 , pp. 722-727
    • Verhoeven, K.1    De Jonghe, P.2    Coen, K.3
  • 67
    • 0028356510 scopus 로고
    • Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis
    • Dyck PJ, Litchy WJ, Minnerath S, et al. Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Ann Neurol 1994;35:608-15
    • (1994) Ann Neurol , vol.35 , pp. 608-615
    • Dyck, P.J.1    Litchy, W.J.2    Minnerath, S.3
  • 68
    • 0030011973 scopus 로고    scopus 로고
    • Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2
    • Yoshioka R, Dyck PJ, Chance PF. Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2. Neurology 1996;46:569-71
    • (1996) Neurology , vol.46 , pp. 569-571
    • Yoshioka, R.1    Dyck, P.J.2    Chance, P.F.3
  • 69
    • 0036226448 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease type 2C: A distinct genetic entity. Clinical and molecular characterization of the first European family
    • Santoro L, Manganelli F, Di Maio L, et al. Charcot-Marie-Tooth disease type 2C: A distinct genetic entity. Clinical and molecular characterization of the first European family. Neuromusc Dis 2002;12:399-404
    • (2002) Neuromusc Dis , vol.12 , pp. 399-404
    • Santoro, L.1    Manganelli, F.2    Di Maio, L.3
  • 71
    • 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;60:37-46
    • (2000) Am J Hum Genet , vol.60 , pp. 37-46
    • Mersiyanova, I.V.1    Perepelov, A.V.2    Polyakov, A.V.3
  • 72
    • 0035136847 scopus 로고    scopus 로고
    • Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E
    • De Jonghe P, Mersiyanova I, Nelis E, et al. Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann Neurol 2001;49:245-49
    • (2001) Ann Neurol , vol.49 , pp. 245-249
    • De Jonghe, P.1    Mersiyanova, I.2    Nelis, E.3
  • 73
    • 0031263931 scopus 로고    scopus 로고
    • Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments
    • Zhu Q, Couillard-Després 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-Després, S.2    Julien, J.P.3
  • 74
    • 0034882062 scopus 로고    scopus 로고
    • A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21
    • Ismailov SM, Fedotov VP, Dadali EL, et al. A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. Eur J Hum Genet 2001;9:646-50
    • (2001) Eur J Hum Genet , vol.9 , pp. 646-650
    • Ismailov, S.M.1    Fedotov, V.P.2    Dadali, E.L.3
  • 75
    • 15644377763 scopus 로고    scopus 로고
    • A new type of hereditary motor and sensory neuropathy linked to chromosome 3
    • Takashima H, Nakagawa M, Nakahara K, et al. A new type of hereditary motor and sensory neuropathy linked to chromosome 3. Ann Neurol 1997;41:771-80
    • (1997) Ann Neurol , vol.41 , pp. 771-780
    • Takashima, H.1    Nakagawa, M.2    Nakahara, K.3
  • 76
    • 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, Vannelli A, Cianchetti C, Muntoni F. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology 1998;50:1397-1401
    • (1998) Neurology , vol.50 , pp. 1397-1401
    • Marrosu, M.G.1    Vaccargiu, S.2    Marrosu, G.3    Vannelli, A.4    Cianchetti, C.5    Muntoni, F.6
  • 77
    • 0033027371 scopus 로고    scopus 로고
    • Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene
    • Chapon F, Latour P, Diraison P, et al. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. J Neurol Neurosurg Psychiatry 1999;66:779-82
    • (1999) J Neurol Neurosurg Psychiatry , vol.66 , pp. 779-782
    • Chapon, F.1    Latour, P.2    Diraison, P.3
  • 78
    • 0032706596 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease and related neuropathies: Molecular basis for distinction and diagnosis
    • Pareyson D. Charcot-Marie-Tooth disease and related neuropathies: Molecular basis for distinction and diagnosis. Muscle Nerve 1999;22:1498-1509
    • (1999) Muscle Nerve , vol.22 , pp. 1498-1509
    • Pareyson, D.1
  • 79
    • 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. 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 2003;126:134-51
    • (2003) Brain , vol.126 , pp. 134-151
    • Hattori, N.1    Yamamoto, M.2    Yoshihara, T.3
  • 80
    • 0036247602 scopus 로고    scopus 로고
    • Understanding Schwann cell-neuron interactions: The key to Charcot-Marie-Tooth disease?
    • Maier M, Berger P, Suter U. Understanding Schwann cell-neuron interactions: The key to Charcot-Marie-Tooth disease? J Anat 2002;200:357-66
    • (2002) J Anat , vol.200 , pp. 357-366
    • Maier, M.1    Berger, P.2    Suter, U.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.