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Volumn 65, Issue 2, 2015, Pages 206-212

Charcot-Marie-Tooth type 1A disease from patient to laboratory

Author keywords

Ascorbic acid; Charcot Marie Tooth disease; Demyelintion; Nerve conduction velocity; Peroneal dystrophy

Indexed keywords

CONNEXIN 32; DYNAMIN II; EARLY GROWTH RESPONSE FACTOR 2; GAP JUNCTION PROTEIN; GLYCINE TRANSFER RNA LIGASE; HEAT SHOCK PROTEIN; MITOFUSIN 2; MYELIN PROTEIN; PERIPHERAL MYELIN PROTEIN 22;

EID: 84928238588     PISSN: 00309982     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (3)

References (35)
  • 1
    • 0002896804 scopus 로고
    • [Sur une forme particulière d'atrophie musculaire progressive, souvent familiale, debutant 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, debutant par les pieds et les jambes et atteignant plus tard les mains]. Rev Med 1886; 6: 97-138.
    • (1886) Rev Med , vol.6 , pp. 97-138
    • Charcot, J.M.1    Marie, P.2
  • 4
    • 0014301249 scopus 로고
    • Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies
    • Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic 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
  • 5
    • 67349116532 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease
    • Kinga S, Lupski JR. Charcot-Marie-Tooth disease. Eur J Hum Genet 2009; 17: 703-10.
    • (2009) Eur J Hum Genet , vol.17 , pp. 703-710
    • Kinga, S.1    Lupski, J.R.2
  • 7
    • 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
  • 8
    • 84879798017 scopus 로고    scopus 로고
    • Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias
    • Timmerman V, Clowes VE, Reid E. Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias. Exp Neurol 2013; 246:14-25.
    • (2013) Exp Neurol , vol.246 , pp. 14-25
    • Timmerman, V.1    Clowes, V.E.2    Reid, E.3
  • 10
    • 84877130911 scopus 로고    scopus 로고
    • Inherited peripheral neuropathies
    • Saporta MA, Shy ME. Inherited peripheral neuropathies. Neurol Clin 2013; 31:597-619.
    • (2013) Neurol Clin , vol.31 , pp. 597-619
    • Saporta, M.A.1    Shy, M.E.2
  • 11
    • 77955575312 scopus 로고    scopus 로고
    • Mechanisms of pain in distal symmetric polyneuropathy: A combined clinical and neurophysiological study
    • Truini A, Biasiotta A, La Cesa S, Di Stefano G, Galeotti F, Petrucci MT, et al. Mechanisms of pain in distal symmetric polyneuropathy: a combined clinical and neurophysiological study. Pain 2010; 150: 516-21.
    • (2010) Pain , vol.150 , pp. 516-521
    • Truini, A.1    Biasiotta, A.2    La Cesa, S.3    Di Stefano, G.4    Galeotti, F.5    Petrucci, M.T.6
  • 12
    • 78649499354 scopus 로고    scopus 로고
    • Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1
    • Abe A, Nakamura K, Kato M, Numakura C, Honma T, Seiwa C, et al. Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1. J Hum Genet 2010; 55:771-3.
    • (2010) J Hum Genet , vol.55 , pp. 771-773
    • Abe, A.1    Nakamura, K.2    Kato, M.3    Numakura, C.4    Honma, T.5    Seiwa, C.6
  • 13
    • 0033963592 scopus 로고    scopus 로고
    • Charcot-Marie-Toothdisease type 1: Molecular pathogenesis to gene therapy
    • Kamholz J, Menichella D, Jani A. Charcot-Marie-Toothdisease 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
  • 14
    • 84893146010 scopus 로고    scopus 로고
    • Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success
    • Vincent T, Alleene V, Strickl SZ. Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success. Genes 2014; 5: 13-32.
    • (2014) Genes , vol.5 , pp. 13-32
    • Vincent, T.1    Alleene, V.2    Strickl, S.Z.3
  • 15
    • 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. AmJ Hum Genet 1982; 34:388-94.
    • (1982) Amj Hum Genet , vol.34 , pp. 388-394
    • Bird, T.D.1    Ott, J.2    Giblett, E.R.3
  • 18
    • 77954395518 scopus 로고    scopus 로고
    • Novelmutation in Xlinked Charcot-Marie-tooth (CMTXI) disease associated with central conduction slowing on brainstem auditory evoked potential (BAEP)
    • Akimoto C, Morita M, Yamamoto M, Nakano I. Novelmutation in Xlinked Charcot-Marie-tooth (CMTXI) disease associated with central conduction slowing on brainstem auditory evoked potential (BAEP). Rinsho Shinkeigaku 2010; 50: 399-403.
    • (2010) Rinsho Shinkeigaku , vol.50 , pp. 399-403
    • Akimoto, C.1    Morita, M.2    Yamamoto, M.3    Nakano, I.4
  • 19
    • 0033809078 scopus 로고    scopus 로고
    • Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis
    • Lewis RA, Sumner AJ, Shy ME. Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis. Muscle Nerve 2000; 23, 1472-87.
    • (2000) Muscle Nerve , vol.23 , pp. 1472-1487
    • Lewis, R.A.1    Sumner, A.J.2    Shy, M.E.3
  • 23
    • 84889845137 scopus 로고    scopus 로고
    • Regulation of PMP22 mRNA by G3BP1 affects cell proliferation in breast cancer cells
    • Winslow S, Leandersson K, Larsson C. Regulation of PMP22 mRNA by G3BP1 affects cell proliferation in breast cancer cells. Mol Cancer 2013; 12: 156.
    • (2013) Mol Cancer , vol.12 , pp. 156
    • Winslow, S.1    Leandersson, K.2    Larsson, C.3
  • 24
    • 84856712027 scopus 로고    scopus 로고
    • A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients
    • Fledrich R, Schlotter-Weigel B, Schnizer TJ, Wichert SP, Stassart RM, Meyer ZU, et al. A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients. Brain 2012; 135: 72-87.
    • (2012) Brain , vol.135 , pp. 72-87
    • Fledrich, R.1    Schlotter-Weigel, B.2    Schnizer, T.J.3    Wichert, S.P.4    Stassart, R.M.5    Meyer, Z.U.6
  • 26
    • 79751528889 scopus 로고    scopus 로고
    • The Wlds transgene reduces axon loss in a Charcot-Marie-Tooth disease 1A rat model and nicotinamide delays post-traumatic axonal degeneration
    • Meyer zu Horste G, Miesbach TA, Muller JI, Fledrich R, Stassart RM, Kieseier BC, et al. The Wlds transgene reduces axon loss in a Charcot-Marie-Tooth disease 1A rat model and nicotinamide delays post-traumatic axonal degeneration. Neurobiol Dis 2011; 42: 1-8.
    • (2011) Neurobiol Dis , vol.42 , pp. 1-8
    • Meyer Zu Horste, G.1    Miesbach, T.A.2    Muller, J.I.3    Fledrich, R.4    Stassart, R.M.5    Kieseier, B.C.6
  • 27
    • 77956960766 scopus 로고    scopus 로고
    • Dihydroprogesterone increases the gene expression of myelin basic protein in spinal cord of diabetic rats
    • Pesaresi M, Giatti S, Calabrese D, Maschi O, Caruso D, Melcangi RC. Dihydroprogesterone increases the gene expression of myelin basic protein in spinal cord of diabetic rats. J Mol Neurosci 2010; 42: 135-9.
    • (2010) J Mol Neurosci , vol.42 , pp. 135-139
    • Pesaresi, M.1    Giatti, S.2    Calabrese, D.3    Maschi, O.4    Caruso, D.5    Melcangi, R.C.6
  • 28
    • 84864129115 scopus 로고    scopus 로고
    • Identification of DrugModulators Targeting Gene-Dosage Disease CMT1A ACS
    • Sung-Wook J, Lopez-Anido C, Ryan M, John S, James I. Identification of DrugModulators Targeting Gene-Dosage Disease CMT1A ACS Chem. Biol 2012; 7: 1205-13.
    • (2012) Chem. Biol , vol.7 , pp. 1205-1213
    • Sung-Wook, J.1    Lopez-Anido, C.2    Ryan, M.3    John, S.4    James, I.5
  • 29
    • 84863203827 scopus 로고    scopus 로고
    • MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B
    • Saporta MA, Shy BR, Patzko A, Bai Y, Pennuto M, Ferri C, et al. MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. Brain 2012; 135: 2032-47
    • (2012) Brain , vol.135 , pp. 2032-2047
    • Saporta, M.A.1    Shy, B.R.2    Patzko, A.3    Bai, Y.4    Pennuto, M.5    Ferri, C.6
  • 30
    • 0015973784 scopus 로고
    • The nature of myelinated nerve fiber degeneration in dominantly inherited hypertrophic neuropathy
    • Dyck PJ, Lais AC, Offord KP. The nature of myelinated nerve fiber degeneration in dominantly inherited hypertrophic neuropathy. Mayo Clin Proc 1974; 49: 34-9.
    • (1974) Mayo Clin Proc , vol.49 , pp. 34-39
    • Dyck, P.J.1    Lais, A.C.2    Offord, K.P.3
  • 31
    • 0031783172 scopus 로고    scopus 로고
    • A novel PMP22 point mutation causing HNPP phenotype: Studies on nerve xenografts
    • Sahenk Z, Chen L, Freimer M. A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts. Neurology 1998; 51: 702-7.
    • (1998) Neurology , vol.51 , pp. 702-707
    • Sahenk, Z.1    Chen, L.2    Freimer, M.3
  • 32
    • 24644446342 scopus 로고    scopus 로고
    • NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients
    • Sahenk Z, Nagaraja HN, McCracken BS, King WM, Freimer ML, Cedarbaum JM, et al: NT-3 promotes nerve regeneration 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    King, W.M.4    Freimer, M.L.5    Cedarbaum, J.M.6
  • 33
    • 0035807876 scopus 로고    scopus 로고
    • Neurotrophins are key mediators of the myelination program in the peripheral nervous system
    • Chan JR, Cosgaya JM, Wu YJ, Shooter EM. Neurotrophins are key mediators of the myelination program in the peripheral nervous system. Proc Natl Acad Sci 2001; 14661-8.
    • (2001) Proc Natl Acad Sci , pp. 14661-14668
    • Chan, J.R.1    Cosgaya, J.M.2    Wu, Y.J.3    Shooter, E.M.4
  • 34
    • 77954659607 scopus 로고    scopus 로고
    • TrkB and TrkC agonist antibodies improve function, electrophysiologic and pathologic features in Trembler
    • Sahenk Z, Galloway G, Edwards C, Malik V, Kaspar BK, Eagle A. TrkB and TrkC agonist antibodies improve function, electrophysiologic and pathologic features in Trembler J mice. Exp Neurol 2010; 224: 495-506.
    • (2010) J Mice. Exp Neurol , vol.224 , pp. 495-506
    • Sahenk, Z.1    Galloway, G.2    Edwards, C.3    Malik, V.4    Kaspar, B.K.5    Eagle, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.