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Volumn 6, Issue 12, 2011, Pages

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the han Chinese in Taiwan

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 83655212414     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0029393     Document Type: Article
Times cited : (84)

References (45)
  • 1
    • 14244265932 scopus 로고    scopus 로고
    • HMSN II (CMT2) and miscellaneous inherited system atrophies of nerve axon: clinical-molecular genetic correlates
    • In: Dyck PJ, Thomas PK, editors, Philadelphia, Elsevier Saunders, 4rd Ed
    • Klein CJ, Dyck PJ, (2005) HMSN II (CMT2) and miscellaneous inherited system atrophies of nerve axon: clinical-molecular genetic correlates. In: Dyck PJ, Thomas PK, editors. Peripheral Neuropathy, 4rd ed Philadelphia Elsevier Saunders pp. 1094-1136.
    • (2005) Peripheral Neuropathy , pp. 1094-1136
    • Klein, C.J.1    Dyck, P.J.2
  • 2
    • 0035369084 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1B-beta
    • Zhao C, Takita J, Tanaka Y, Setou M, Nakagawa T, et al. (2001) Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1B-beta. Cell 105: 587-597.
    • (2001) Cell , vol.105 , pp. 587-597
    • Zhao, C.1    Takita, J.2    Tanaka, Y.3    Setou, M.4    Nakagawa, T.5
  • 3
    • 2442589922 scopus 로고    scopus 로고
    • Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
    • Zuchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, et al. (2004) Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nature Genet 36: 449-451.
    • (2004) Nature Genet , vol.36 , pp. 449-451
    • Zuchner, S.1    Mersiyanova, I.V.2    Muglia, M.3    Bissar-Tadmouri, N.4    Rochelle, J.5
  • 4
    • 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, Verpoorten N, Auer-Grumbach M, et al. (2003) Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet 72: 722-727.
    • (2003) Am J Hum Genet , vol.72 , pp. 722-727
    • Verhoeven, K.1    de Jonghe, P.2    Coen, K.3    Verpoorten, N.4    Auer-Grumbach, M.5
  • 6
    • 0038067742 scopus 로고    scopus 로고
    • Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
    • Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, et al. (2003) Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 72: 1293-1299.
    • (2003) Am J Hum Genet , vol.72 , pp. 1293-1299
    • Antonellis, A.1    Ellsworth, R.E.2    Sambuughin, N.3    Puls, I.4    Abel, A.5
  • 7
    • 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-like gene
    • Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, et al. (2000) A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-like gene. Am J Hum Genet 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    Sitnikov, V.F.4    Dadali, E.L.5
  • 8
    • 2642563501 scopus 로고    scopus 로고
    • Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
    • Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, et al. (2004) Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nature Genet 36: 602-606.
    • (2004) Nature Genet , vol.36 , pp. 602-606
    • Evgrafov, O.V.1    Mersiyanova, I.2    Irobi, J.3    van Den Bosch, L.4    Dierick, I.5
  • 9
    • 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, et al. (1998) Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology 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
  • 10
    • 0032949034 scopus 로고    scopus 로고
    • The thr124-to-met mutation in peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype
    • De Jonghe P, Timmerman V, Ceuterick C, Nelis E, De Vriendt E, et al. (1999) The thr124-to-met mutation in peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 122: 281-290.
    • (1999) Brain , vol.122 , pp. 281-290
    • de Jonghe, P.1    Timmerman, V.2    Ceuterick, C.3    Nelis, E.4    de Vriendt, E.5
  • 11
    • 20244374986 scopus 로고    scopus 로고
    • Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect
    • Claramunt R, Pedrola L, Sevilla T, López de Munain A, et al. (2005) Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet 42: 358-365.
    • (2005) J Med Genet , vol.42 , pp. 358-365
    • Claramunt, R.1    Pedrola, L.2    Sevilla, T.3    López de Munain, A.4
  • 12
    • 18544388962 scopus 로고    scopus 로고
    • The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
    • Cuesta A, Pedrola L, Sevilla T, García-Planells J, Chumillas MJ, et al. (2002) The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 30: 22-24.
    • (2002) Nat Genet , vol.30 , pp. 22-24
    • Cuesta, A.1    Pedrola, L.2    Sevilla, T.3    García-Planells, J.4    Chumillas, M.J.5
  • 13
    • 2642539919 scopus 로고    scopus 로고
    • Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
    • Irobi J, Van Impe K, Seeman P, Jordanova A, Dierick I, et al. (2004) Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet 36: 597-601.
    • (2004) Nat Genet , vol.36 , pp. 597-601
    • Irobi, J.1    van Impe, K.2    Seeman, P.3    Jordanova, A.4    Dierick, I.5
  • 14
    • 19944433659 scopus 로고    scopus 로고
    • Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L
    • Tang B, Zhao G, Luo W, (2005) Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. Hum Genet 116: 222-224.
    • (2005) Hum Genet , vol.116 , pp. 222-224
    • Tang, B.1    Zhao, G.2    Luo, W.3
  • 15
    • 34547597494 scopus 로고    scopus 로고
    • Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease
    • Fabrizi GM, Ferrarini M, Cavallaro T, Cabrini I, Cerini R, et al. (2007) Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. Neurology 69: 291-295.
    • (2007) Neurology , vol.69 , pp. 291-295
    • Fabrizi, G.M.1    Ferrarini, M.2    Cavallaro, T.3    Cabrini, I.4    Cerini, R.5
  • 16
    • 73349114324 scopus 로고    scopus 로고
    • A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alany-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease
    • Latour P, Thauvin-Robinet C, Baudelet-Mery C, Soichot P, Cusin V, et al. (2010) A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alany-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet 86: 77-82.
    • (2010) Am J Hum Genet , vol.86 , pp. 77-82
    • Latour, P.1    Thauvin-Robinet, C.2    Baudelet-Mery, C.3    Soichot, P.4    Cusin, V.5
  • 17
    • 0036178210 scopus 로고    scopus 로고
    • Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse
    • De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, et al. (2002) Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet 70: 726-736.
    • (2002) Am J Hum Genet , vol.70 , pp. 726-736
    • de Sandre-Giovannoli, A.1    Chaouch, M.2    Kozlov, S.3    Vallat, J.M.4    Tazir, M.5
  • 18
    • 79953784083 scopus 로고    scopus 로고
    • Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models
    • Leal A, Huehne K, Bauer F, Sticht H, Berger P, et al. (2009) Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics 10: 275-287.
    • (2009) Neurogenetics , vol.10 , pp. 275-287
    • Leal, A.1    Huehne, K.2    Bauer, F.3    Sticht, H.4    Berger, P.5
  • 19
    • 33747884623 scopus 로고    scopus 로고
    • MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2
    • Verhoeven K, Claeys KG, Zuchner S, Schröder JM, Weis J, et al. (2006) MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain 129: 2093-2102.
    • (2006) Brain , vol.129 , pp. 2093-2102
    • Verhoeven, K.1    Claeys, K.G.2    Zuchner, S.3    Schröder, J.M.4    Weis, J.5
  • 20
    • 33747872317 scopus 로고    scopus 로고
    • Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations
    • Chung KW, Kim SB, Park KD, Choi KG, Lee JH, et al. (2006) Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain 129: 2103-2118.
    • (2006) Brain , vol.129 , pp. 2103-2118
    • Chung, K.W.1    Kim, S.B.2    Park, K.D.3    Choi, K.G.4    Lee, J.H.5
  • 21
    • 73549111096 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations
    • Calvo J, Funalot B, Ouvrier RA, Lazaro L, Toutain A, et al. (2009) Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. Arch Neurol 66: 1511-1516.
    • (2009) Arch Neurol , vol.66 , pp. 1511-1516
    • Calvo, J.1    Funalot, B.2    Ouvrier, R.A.3    Lazaro, L.4    Toutain, A.5
  • 22
    • 79957517676 scopus 로고    scopus 로고
    • MFN2 mutations cause severe phenotypes in most patients with CMT2A
    • Feely SME, Laura M, Siskind CE, Sottile S, Davis M, et al. (2011) MFN2 mutations cause severe phenotypes in most patients with CMT2A. Neurology 76: 1690-1696.
    • (2011) Neurology , vol.76 , pp. 1690-1696
    • Feely, S.M.E.1    Laura, M.2    Siskind, C.E.3    Sottile, S.4    Davis, M.5
  • 23
    • 20144366550 scopus 로고    scopus 로고
    • Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
    • Zuchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, et al. (2005) Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet 37: 289-294.
    • (2005) Nat Genet , vol.37 , pp. 289-294
    • Zuchner, S.1    Noureddine, M.2    Kennerson, M.3    Verhoeven, K.4    Claeys, K.5
  • 24
    • 31744448271 scopus 로고    scopus 로고
    • Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
    • Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, et al. (2006) Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet 38: 197-202.
    • (2006) Nat Genet , vol.38 , pp. 197-202
    • Jordanova, A.1    Irobi, J.2    Thomas, F.P.3    van Dijck, P.4    Meerschaert, K.5
  • 25
    • 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, Phillips BA, Edmondston JE, et al. (1999) Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry 67: 174-179.
    • (1999) J Neurol Neurosurg Psychiatry , vol.67 , pp. 174-179
    • Mastaglia, F.L.1    Nowak, K.J.2    Stell, R.3    Phillips, B.A.4    Edmondston, J.E.5
  • 26
    • 0032145786 scopus 로고    scopus 로고
    • 2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (distal HMN-Spinal CMT) 26-28 September 1997, Naarden, The Netherlands
    • De Jonghe P, Timmerman V, Van Broeckhoven C, (1998) 2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (distal HMN-Spinal CMT) 26-28 September 1997, Naarden, The Netherlands. Neuromuscul Disord 8: 426-431.
    • (1998) Neuromuscul Disord , vol.8 , pp. 426-431
    • de Jonghe, P.1    Timmerman, V.2    van Broeckhoven, C.3
  • 28
    • 77953349923 scopus 로고    scopus 로고
    • Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation
    • Boaretto F, Vettori A, Casarin A, Vazza G, Muglia M, et al. (2010) Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation. Neurology 74: 1919-1921.
    • (2010) Neurology , vol.74 , pp. 1919-1921
    • Boaretto, F.1    Vettori, A.2    Casarin, A.3    Vazza, G.4    Muglia, M.5
  • 29
    • 77957724879 scopus 로고    scopus 로고
    • Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy
    • McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, et al. (2010) Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet 87: 560-566.
    • (2010) Am J Hum Genet , vol.87 , pp. 560-566
    • McLaughlin, H.M.1    Sakaguchi, R.2    Liu, C.3    Igarashi, T.4    Pehlivan, D.5
  • 30
    • 27144448839 scopus 로고    scopus 로고
    • Some like it hot: the structure and function of small heat-shock proteins
    • Haslbeck M, Franzmann T, Weinfurtner D, Buchner J, (2005) Some like it hot: the structure and function of small heat-shock proteins. Nat Struct Mol Biol 12: 842-846.
    • (2005) Nat Struct Mol Biol , vol.12 , pp. 842-846
    • Haslbeck, M.1    Franzmann, T.2    Weinfurtner, D.3    Buchner, J.4
  • 31
    • 79960698253 scopus 로고    scopus 로고
    • Three-dimensional structure of α-crystallin domain dimers of human small heat shock proteins HSPB1 and HSPB6
    • Baranova EV, Weeks SD, Beelen S, Bukach OV, Gusev NB, et al. (2011) Three-dimensional structure of α-crystallin domain dimers of human small heat shock proteins HSPB1 and HSPB6. J Mol Biol 411: 110-122.
    • (2011) J Mol Biol , vol.411 , pp. 110-122
    • Baranova, E.V.1    Weeks, S.D.2    Beelen, S.3    Bukach, O.V.4    Gusev, N.B.5
  • 32
    • 58149243285 scopus 로고    scopus 로고
    • Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2
    • Houlden H, Laura M, Wavrant-De Vrièze F, Blake J, Wood N, et al. (2008) Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. Neurology 71: 1660-1668.
    • (2008) Neurology , vol.71 , pp. 1660-1668
    • Houlden, H.1    Laura, M.2    Wavrant-de Vrièze, F.3    Blake, J.4    Wood, N.5
  • 33
    • 77951213476 scopus 로고    scopus 로고
    • Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth Neuropathy
    • Almeida-Souza L, Goethals S, de Winter V, Dierick I, Gallardo R, et al. (2010) Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth Neuropathy. J Biol Chem 285: 12778-12786.
    • (2010) J Biol Chem , vol.285 , pp. 12778-12786
    • Almeida-Souza, L.1    Goethals, S.2    de Winter, V.3    Dierick, I.4    Gallardo, R.5
  • 35
    • 0029933741 scopus 로고    scopus 로고
    • Human hsp27, Drosophila hsp27 and human alphaB-crystallin expression-mediated increase in glutathione is essential for the protective activity of these proteins against TNF alpha-induced cell death
    • Mehlen P, Kretz-Remy C, Preville X, Arrigo AP, (1996) Human hsp27, Drosophila hsp27 and human alphaB-crystallin expression-mediated increase in glutathione is essential for the protective activity of these proteins against TNF alpha-induced cell death. EMBO J 15: 2695-2706.
    • (1996) EMBO J , vol.15 , pp. 2695-2706
    • Mehlen, P.1    Kretz-Remy, C.2    Preville, X.3    Arrigo, A.P.4
  • 36
    • 0027482463 scopus 로고
    • Modulation of actin microfilament dynamics and fluid phase pinocytosis by phosphorylation of heat shock protein 27
    • Lavoie JN, Hickey E, Weber LA, Landry J, (1993) Modulation of actin microfilament dynamics and fluid phase pinocytosis by phosphorylation of heat shock protein 27. J Biol Chem 268: 24210-24214.
    • (1993) J Biol Chem , vol.268 , pp. 24210-24214
    • Lavoie, J.N.1    Hickey, E.2    Weber, L.A.3    Landry, J.4
  • 37
    • 25444514731 scopus 로고    scopus 로고
    • Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease
    • Niemann A, Ruegg M, La Padula V, Schenone A, Suter U, (2005) Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J Cell Biol 170: 1067-1078.
    • (2005) J Cell Biol , vol.170 , pp. 1067-1078
    • Niemann, A.1    Ruegg, M.2    La Padula, V.3    Schenone, A.4    Suter, U.5
  • 39
    • 33746353696 scopus 로고    scopus 로고
    • Functional characterization of ganglioside-induced differentiation-associated protein 1 as a gluthione transferase
    • Shield AJ, Murray TP, Board PG, (2006) Functional characterization of ganglioside-induced differentiation-associated protein 1 as a gluthione transferase. Biochem Biophys Res Commun 347: 859-66.
    • (2006) Biochem Biophys Res Commun , vol.347 , pp. 859-866
    • Shield, A.J.1    Murray, T.P.2    Board, P.G.3
  • 40
    • 78650934995 scopus 로고    scopus 로고
    • Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations
    • Cassereau J, Chevrollier A, Gueguen N, Desquiret V, Verny C, et al. (2011) Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations. Exp Neurol 227: 31-41.
    • (2011) Exp Neurol , vol.227 , pp. 31-41
    • Cassereau, J.1    Chevrollier, A.2    Gueguen, N.3    Desquiret, V.4    Verny, C.5
  • 41
    • 0347090624 scopus 로고    scopus 로고
    • The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy
    • Züchner S, Vorgerd M, Sindern E, Schröder JM, (2004) The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. Neuromuscul Disord 12: 147-157.
    • (2004) Neuromuscul Disord , vol.12 , pp. 147-157
    • Züchner, S.1    Vorgerd, M.2    Sindern, E.3    Schröder, J.M.4
  • 42
    • 6044277961 scopus 로고    scopus 로고
    • Mutational analysis of PMP22, MPZ, GJB1, EGR2, and NEFL in Korean Charcot-Marie-Tooth neuropathy patients
    • Choi BO, Lee MS, Shin SH, Hwang JH, Choi KG, et al. (2004) Mutational analysis of PMP22, MPZ, GJB1, EGR2, and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. Hum Mutat 24: 185-186.
    • (2004) Hum Mutat , vol.24 , pp. 185-186
    • Choi, B.O.1    Lee, M.S.2    Shin, S.H.3    Hwang, J.H.4    Choi, K.G.5
  • 43
    • 60749123443 scopus 로고    scopus 로고
    • Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype
    • Abe A, Numakura C, Saito K, Koide H, Oka N, et al. (2009) Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. J Hum Genet 54: 94-97.
    • (2009) J Hum Genet , vol.54 , pp. 94-97
    • Abe, A.1    Numakura, C.2    Saito, K.3    Koide, H.4    Oka, N.5
  • 44
    • 0023853921 scopus 로고
    • The CpG dinucleotide and human genetic disease
    • Cooper DN, Youssoufian H, (1988) The CpG dinucleotide and human genetic disease. Hum Genet 78: 151-155.
    • (1988) Hum Genet , vol.78 , pp. 151-155
    • Cooper, D.N.1    Youssoufian, H.2
  • 45
    • 16844381836 scopus 로고    scopus 로고
    • Reliability and validity of the CMT neuropathy score as a measure of disability
    • Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, et al. (2005) Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 64: 1209-1214.
    • (2005) Neurology , vol.64 , pp. 1209-1214
    • Shy, M.E.1    Blake, J.2    Krajewski, K.3    Fuerst, D.R.4    Laura, M.5


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