메뉴 건너뛰기




Volumn 8, Issue , 2015, Pages 235-243

The genetics of Charcot–Marie–Tooth disease: Current trends and future implications for diagnosis and management

Author keywords

Charcot Marie Tooth disease; Nerve conduction studies; Neurogenetic testing; Neuropathy; Next generation sequencing

Indexed keywords

ANTIGESTAGEN; ASCORBIC ACID; BACLOFEN; CURCUMIN; HISTONE DEACETYLASE INHIBITOR; MITOFUSIN 2; NALTREXONE; PERIPHERAL MYELIN PROTEIN 22; SORBITOL;

EID: 84944875577     PISSN: None     EISSN: 1178704X     Source Type: Journal    
DOI: 10.2147/TACG.S69969     Document Type: Review
Times cited : (59)

References (100)
  • 1
    • 84937721723 scopus 로고    scopus 로고
    • Molecular pathogenesis, experimental therapy and genetic counseling in hereditary sensory neuropathies
    • Mroczek M, Kabzinska D, Kochanski A. Molecular pathogenesis, experimental therapy and genetic counseling in hereditary sensory neuropathies. Acta Neurobiol Exp (Wars). 2015;75(2):126-143.
    • (2015) Acta Neurobiol Exp (Wars). , vol.75 , Issue.2 , pp. 126-143
    • Mroczek, M.1    Kabzinska, D.2    Kochanski, A.3
  • 2
    • 84857036952 scopus 로고    scopus 로고
    • Mechanisms of disease in hereditary sensory and autonomic neuropathies
    • Rotthier A, Baets J, Timmerman V, Janssens K. Mechanisms of disease in hereditary sensory and autonomic neuropathies. Nat Rev Neurol. 2012;8(2):73-85.
    • (2012) Nat Rev Neurol. , vol.8 , Issue.2 , pp. 73-85
    • Rotthier, A.1    Baets, J.2    Timmerman, V.3    Janssens, K.4
  • 4
    • 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(2):259-280.
    • (1980) Brain. , vol.103 , Issue.2 , pp. 259-280
    • Harding, A.E.1    Thomas, P.K.2
  • 5
    • 79957517676 scopus 로고    scopus 로고
    • MFN2 mutations cause severe phenotypes in most patients with CMT2A
    • Feely SM, Laura M, Siskind CE, et al. MFN2 mutations cause severe phenotypes in most patients with CMT2A. Neurology. 2011;76(20): 1690-1696.
    • (2011) Neurology. , vol.76 , Issue.20 , pp. 1690-1696
    • Feely, S.M.1    Laura, M.2    Siskind, C.E.3
  • 7
    • 71049153213 scopus 로고    scopus 로고
    • The natural history of Charcot-Marie-Tooth type 1A in adults: A 5-year follow-up study
    • Verhamme C, van Schaik IN, Koelman JH, de Haan RJ, de Visser M. The natural history of Charcot-Marie-Tooth type 1A in adults: a 5-year follow-up study. Brain. 2009;132(Pt 12):3252-3262.
    • (2009) Brain. , vol.132 , pp. 3252-3262
    • Verhamme, C.1    van Schaik, I.N.2    Koelman, J.H.3    de Haan, R.J.4    de Visser, M.5
  • 8
    • 34447283040 scopus 로고    scopus 로고
    • Scoliosis in patients with Charcot-Marie-Tooth disease
    • Karol LA, Elerson E. Scoliosis in patients with Charcot-Marie-Tooth disease. J Bone Joint Surg Am. 2007;89(7):1504-1510.
    • (2007) J Bone Joint Surg Am. , vol.89 , Issue.7 , pp. 1504-1510
    • Karol, L.A.1    Elerson, E.2
  • 9
    • 37349051369 scopus 로고    scopus 로고
    • Spinal deformities in hereditary motor and sensory neuropathy: A retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients
    • Horacek O, Mazanec R, Morris CE, Kobesova A. Spinal deformities in hereditary motor and sensory neuropathy: a retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients. Spine. 2007;32(22):2502-2508.
    • (2007) Spine. , vol.32 , Issue.22 , pp. 2502-2508
    • Horacek, O.1    Mazanec, R.2    Morris, C.E.3    Kobesova, A.4
  • 11
    • 84893674620 scopus 로고    scopus 로고
    • Hip dysplasia is more severe in Charcot-Marie-Tooth disease than in developmental dysplasia of the hip
    • Novais EN, Bixby SD, Rennick J, Carry PM, Kim YJ, Millis MB. Hip dysplasia is more severe in Charcot-Marie-Tooth disease than in developmental dysplasia of the hip. Clin Orthop Relat Res. 2014;472(2): 665-673.
    • (2014) Clin Orthop Relat Res. , vol.472 , Issue.2 , pp. 665-673
    • Novais, E.N.1    Bixby, S.D.2    Rennick, J.3    Carry, P.M.4    Kim, Y.J.5    Millis, M.B.6
  • 12
    • 0031648807 scopus 로고    scopus 로고
    • Neuropathic pain in Charcot-Marie-Tooth disease
    • Carter GT, Jensen MP, Galer BS, et al. Neuropathic pain in Charcot-Marie-Tooth disease. Arch Phys Med Rehabil. 1998;79(12):1560-1564.
    • (1998) Arch Phys Med Rehabil. , vol.79 , Issue.12 , pp. 1560-1564
    • Carter, G.T.1    Jensen, M.P.2    Galer, B.S.3
  • 13
    • 84895764989 scopus 로고    scopus 로고
    • Effect of pain in pediatric inherited neuropathies
    • Ramchandren S, Jaiswal M, Feldman E, Shy M. Effect of pain in pediatric inherited neuropathies. Neurology. 2014;82(9):793-797.
    • (2014) Neurology. , vol.82 , Issue.9 , pp. 793-797
    • Ramchandren, S.1    Jaiswal, M.2    Feldman, E.3    Shy, M.4
  • 14
    • 84859813183 scopus 로고    scopus 로고
    • Pain assessment in Charcot-Marie-Tooth (CMT) disease
    • Ribiere C, Bernardin M, Sacconi S, et al. Pain assessment in Charcot-Marie-Tooth (CMT) disease. Ann Phys Rehabil Med. 2012;55(3): 160-173.
    • (2012) Ann Phys Rehabil Med. , vol.55 , Issue.3 , pp. 160-173
    • Ribiere, C.1    Bernardin, M.2    Sacconi, S.3
  • 15
    • 75149165154 scopus 로고    scopus 로고
    • Small fiber neuropathy in Charcot-Marie-Tooth disease
    • Zambelis T. Small fiber neuropathy in Charcot-Marie-Tooth disease. Acta Neurol Belg. 2009;109(4):294-297.
    • (2009) Acta Neurol Belg. , vol.109 , Issue.4 , pp. 294-297
    • Zambelis, T.1
  • 16
    • 84925847827 scopus 로고    scopus 로고
    • Neuropathic pain in hereditary peripheral neuropathy
    • Jeong NY, Shin YH, Jung J. Neuropathic pain in hereditary peripheral neuropathy. J Exerc Rehabil. 2013;9(4):397-399.
    • (2013) J Exerc Rehabil. , vol.9 , Issue.4 , pp. 397-399
    • Jeong, N.Y.1    Shin, Y.H.2    Jung, J.3
  • 18
    • 84888184057 scopus 로고    scopus 로고
    • Restless leg syndrome in different types of demyelinating neuropathies: A single-center pilot study
    • Luigetti M, Del Grande A, Testani E, et al. Restless leg syndrome in different types of demyelinating neuropathies: a single-center pilot study. J Clin Sleep Med. 2013;9(9):945-949.
    • (2013) J Clin Sleep Med. , vol.9 , Issue.9 , pp. 945-949
    • Luigetti, M.1    Del Grande, A.2    Testani, E.3
  • 19
    • 84925351141 scopus 로고    scopus 로고
    • Prospective study of muscle cramps in Charcot-Marie-Tooth disease
    • Johnson NE, Sowden J, Dilek N, et al. Prospective study of muscle cramps in Charcot-Marie-Tooth disease. Muscle Nerve. 2015; 51(4):485-488.
    • (2015) Muscle Nerve. , vol.51 , Issue.4 , pp. 485-488
    • Johnson, N.E.1    Sowden, J.2    Dilek, N.3
  • 20
    • 84865566310 scopus 로고    scopus 로고
    • A practical approach to molecular diagnostic testing in neuromuscular diseases
    • Arnold WD, Flanigan KM. A practical approach to molecular diagnostic testing in neuromuscular diseases. Phys Med Rehabil Clin N Am. 2012;23(3):589-608.
    • (2012) Phys Med Rehabil Clin N Am. , vol.23 , Issue.3 , pp. 589-608
    • Arnold, W.D.1    Flanigan, K.M.2
  • 21
    • 0030030169 scopus 로고    scopus 로고
    • Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: First report of a de novo duplication with a maternal origin
    • Blair IP, Nash J, Gordon MJ, Nicholson GA. Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin. Am J Hum Genet. 1996;58(3):472-476.
    • (1996) Am J Hum Genet. , vol.58 , Issue.3 , pp. 472-476
    • Blair, I.P.1    Nash, J.2    Gordon, M.J.3    Nicholson, G.A.4
  • 22
    • 79951954923 scopus 로고    scopus 로고
    • Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation
    • Murphy SM, Laura M, Blake J, Polke J, Bremner F, Reilly MM. Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation. Neuromuscul Disord. 2011;21(3):223-226.
    • (2011) Neuromuscul Disord. , vol.21 , Issue.3 , pp. 223-226
    • Murphy, S.M.1    Laura, M.2    Blake, J.3    Polke, J.4    Bremner, F.5    Reilly, M.M.6
  • 23
    • 77954644216 scopus 로고    scopus 로고
    • X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode
    • Anand G, Maheshwari N, Roberts D, et al. X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode. Dev Med Child Neurol. 2010;52(7):677-679.
    • (2010) Dev Med Child Neurol. , vol.52 , Issue.7 , pp. 677-679
    • Anand, G.1    Maheshwari, N.2    Roberts, D.3
  • 24
    • 84925355457 scopus 로고    scopus 로고
    • X-linked Charcot-Marie-Tooth type 1: Stroke-like presentation of a novel GJB1 mutation
    • Sagnelli A, Piscosquito G, Chiapparini L, et al. X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation. J Peripher Nerv Syst. 2014;19(2):183-186.
    • (2014) J Peripher Nerv Syst. , vol.19 , Issue.2 , pp. 183-186
    • Sagnelli, A.1    Piscosquito, G.2    Chiapparini, L.3
  • 25
    • 84893920062 scopus 로고    scopus 로고
    • Recurrent central nervous system white matter changes in Charcot-Marie-tooth type X disease
    • McKinney JL, De Los Reyes EC, Lo WD, Flanigan KM. Recurrent central nervous system white matter changes in Charcot-Marie-tooth type X disease. Muscle Nerve. 2014;49(3):451-454.
    • (2014) Muscle Nerve. , vol.49 , Issue.3 , pp. 451-454
    • McKinney, J.L.1    De Los Reyes, E.C.2    Lo, W.D.3    Flanigan, K.M.4
  • 26
    • 84902127496 scopus 로고    scopus 로고
    • Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy
    • Echaniz-Laguna A, Dubourg O, Carlier P, et al. Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy. Neurology. 2014;82(21):1919-1926.
    • (2014) Neurology. , vol.82 , Issue.21 , pp. 1919-1926
    • Echaniz-Laguna, A.1    Dubourg, O.2    Carlier, P.3
  • 27
    • 84866250052 scopus 로고    scopus 로고
    • Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family
    • Landoure G, Sullivan JM, Johnson JO, et al. Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. Neurology. 2012;79(2):192-194.
    • (2012) Neurology. , vol.79 , Issue.2 , pp. 192-194
    • Landoure, G.1    Sullivan, J.M.2    Johnson, J.O.3
  • 28
    • 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. Neuromuscul Disord. 2002;12(4):399-404.
    • (2002) Neuromuscul Disord. , vol.12 , Issue.4 , pp. 399-404
    • Santoro, L.1    Manganelli, F.2    Di Maio, L.3
  • 29
    • 84905996534 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease type 2A: From typical to rare phenotypic and genotypic features
    • Bombelli F, Stojkovic T, Dubourg O, et al. Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. JAMA Neurol. 2014;71(8):1036-1042.
    • (2014) JAMA Neurol. , vol.71 , Issue.8 , pp. 1036-1042
    • Bombelli, F.1    Stojkovic, T.2    Dubourg, O.3
  • 30
    • 0032949034 scopus 로고    scopus 로고
    • The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype
    • De Jonghe P, Timmerman V, Ceuterick C, et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain. 1999;122(Pt 2):281-290.
    • (1999) Brain. , vol.122 , pp. 281-290
    • De Jonghe, P.1    Timmerman, V.2    Ceuterick, C.3
  • 31
    • 0037268446 scopus 로고    scopus 로고
    • Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease
    • Takashima H, Nakagawa M, Umehara F, et al. Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease. Acta Neurol Scand. 2003;107(1):31-37.
    • (2003) Acta Neurol Scand. , vol.107 , Issue.1 , pp. 31-37
    • Takashima, H.1    Nakagawa, M.2    Umehara, F.3
  • 32
    • 0037209043 scopus 로고    scopus 로고
    • Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1
    • Huehne K, Benes V, Thiel C, et al. Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. Hum Mutat. 2003;21(1):100.
    • (2003) Hum Mutat. , vol.21 , Issue.1 , pp. 100
    • Huehne, K.1    Benes, V.2    Thiel, C.3
  • 33
    • 84900851906 scopus 로고    scopus 로고
    • Peripheral myelin protein 22 gene duplication with atypical presentations: A new example of the wide spectrum of Charcot-Marie-Tooth 1A disease
    • Mathis S, Corcia P, Tazir M, et al. Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease. Neuromuscul Disord. 2014;24(6):524-528.
    • (2014) Neuromuscul Disord. , vol.24 , Issue.6 , pp. 524-528
    • Mathis, S.1    Corcia, P.2    Tazir, M.3
  • 34
    • 0020423653 scopus 로고
    • Hereditary neuropathy with liability to pressure palsies. Report of two families and review of the literature
    • Meier C, Moll C. Hereditary neuropathy with liability to pressure palsies. Report of two families and review of the literature. J Neurol. 1982;228(2):73-95.
    • (1982) J Neurol. , vol.228 , Issue.2 , pp. 73-95
    • Meier, C.1    Moll, C.2
  • 35
    • 0029995031 scopus 로고    scopus 로고
    • Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion
    • Pareyson D, Scaioli V, Taroni F, et al. Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion. Neurology. 1996;46(4):1133-1137.
    • (1996) Neurology. , vol.46 , Issue.4 , pp. 1133-1137
    • Pareyson, D.1    Scaioli, V.2    Taroni, F.3
  • 37
    • 84879394688 scopus 로고    scopus 로고
    • Autosomal recessive Charcot-Marie-Tooth disease: From genes to phenotypes
    • Tazir M, Bellatache M, Nouioua S, Vallat JM. Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes. J Peripher Nerv Syst. 2013;18(2):113-129.
    • (2013) J Peripher Nerv Syst. , vol.18 , Issue.2 , pp. 113-129
    • Tazir, M.1    Bellatache, M.2    Nouioua, S.3    Vallat, J.M.4
  • 38
    • 0027753971 scopus 로고
    • Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1
    • Kaku DA, Parry GJ, Malamut R, Lupski JR, Garcia CA. Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1. Neurology. 1993;43(12):2664-2667.
    • (1993) Neurology. , vol.43 , Issue.12 , pp. 2664-2667
    • Kaku, D.A.1    Parry, G.J.2    Malamut, R.3    Lupski, J.R.4    Garcia, C.A.5
  • 39
    • 84876087894 scopus 로고    scopus 로고
    • Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy
    • Cottenie E, Menezes MP, Rossor AM, et al. Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. Neuromuscul Disord. 2013;23(5):399-403.
    • (2013) Neuromuscul Disord. , vol.23 , Issue.5 , pp. 399-403
    • Cottenie, E.1    Menezes, M.P.2    Rossor, A.M.3
  • 40
    • 66149114821 scopus 로고    scopus 로고
    • GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment
    • Michell AW, Laura M, Blake J, et al. GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment. J Neurol Neurosurg Psychiatr. 2009;80(6):699-700.
    • (2009) J Neurol Neurosurg Psychiatr. , vol.80 , Issue.6 , pp. 699-700
    • Michell, A.W.1    Laura, M.2    Blake, J.3
  • 41
    • 70349257316 scopus 로고    scopus 로고
    • Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF
    • Gerding WM, Koetting J, Epplen JT, Neusch C. Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF. Neuromuscul Disord. 2009;19(10):701-703.
    • (2009) Neuromuscul Disord. , vol.19 , Issue.10 , pp. 701-703
    • Gerding, W.M.1    Koetting, J.2    Epplen, J.T.3    Neusch, C.4
  • 42
    • 0021061363 scopus 로고
    • Peroneal muscular atrophy. Part 1. Clinical and electrophysiological study
    • Bouche P, Gherardi R, Cathala HP, Lhermitte F, Castaigne P. Peroneal muscular atrophy. Part 1. Clinical and electrophysiological study. J Neurol Sci. 1983;61(3):389-399.
    • (1983) J Neurol Sci. , vol.61 , Issue.3 , pp. 389-399
    • Bouche, P.1    Gherardi, R.2    Cathala, H.P.3    Lhermitte, F.4    Castaigne, P.5
  • 43
    • 84890756219 scopus 로고    scopus 로고
    • Ultrasound of inherited vs acquired demyelinating polyneuropathies
    • Zaidman CM, Harms MB, Pestronk A. Ultrasound of inherited vs acquired demyelinating polyneuropathies. J Neurol. 2013;260(12):3115-3121.
    • (2013) J Neurol. , vol.260 , Issue.12 , pp. 3115-3121
    • Zaidman, C.M.1    Harms, M.B.2    Pestronk, A.3
  • 44
    • 84874262904 scopus 로고    scopus 로고
    • Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP
    • Schreiber S, Oldag A, Kornblum C, et al. Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP. Muscle Nerve. 2013; 47(3):385-395.
    • (2013) Muscle Nerve. , vol.47 , Issue.3 , pp. 385-395
    • Schreiber, S.1    Oldag, A.2    Kornblum, C.3
  • 45
    • 84886088260 scopus 로고    scopus 로고
    • Ultrasonographic nerve enlargement of the median and ulnar nerves and the cervical nerve roots in patients with demyelinating Charcot-Marie-Tooth disease: Distinction from patients with chronic inflammatory demyelinating polyneuropathy
    • Sugimoto T, Ochi K, Hosomi N, et al. Ultrasonographic nerve enlargement of the median and ulnar nerves and the cervical nerve roots in patients with demyelinating Charcot-Marie-Tooth disease: distinction from patients with chronic inflammatory demyelinating polyneuropathy. J Neurol. 2013;260(10):2580-2587.
    • (2013) J Neurol. , vol.260 , Issue.10 , pp. 2580-2587
    • Sugimoto, T.1    Ochi, K.2    Hosomi, N.3
  • 46
    • 0033985893 scopus 로고    scopus 로고
    • Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies
    • Andersson PB, Yuen E, Parko K, So YT. Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. Neurology. 2000;54(1):40-44.
    • (2000) Neurology. , vol.54 , Issue.1 , pp. 40-44
    • Andersson, P.B.1    Yuen, E.2    Parko, K.3    So, Y.T.4
  • 47
    • 0026411316 scopus 로고
    • Charcot-Marie-Tooth disease type 1A: Molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy
    • Roa BB, Garcia CA, Lupski JR. Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy. Int J Neurol. 1991;25-26: 97-107.
    • (1991) Int J Neurol , vol.25-26 , pp. 97-107
    • Roa, B.B.1    Garcia, C.A.2    Lupski, J.R.3
  • 48
    • 84940645158 scopus 로고    scopus 로고
    • CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: A cross-sectional analysis
    • Fridman V, Bundy B, Reilly MM, et al. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. J Neurol Neurosurg Psychiatry. 2015;86(8):873-878.
    • (2015) J Neurol Neurosurg Psychiatry. , vol.86 , Issue.8 , pp. 873-878
    • Fridman, V.1    Bundy, B.2    Reilly, M.M.3
  • 49
    • 84861908529 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease: Frequency of genetic subtypes and guidelines for genetic testing
    • Murphy SM, Laura M, Fawcett K, et al. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatr. 2012;83(7):706-710.
    • (2012) J Neurol Neurosurg Psychiatr. , vol.83 , Issue.7 , pp. 706-710
    • Murphy, S.M.1    Laura, M.2    Fawcett, K.3
  • 50
    • 84885668385 scopus 로고    scopus 로고
    • Clinical implications of genetic advances in Charcot-Marie-Tooth disease
    • Rossor AM, Polke JM, Houlden H, Reilly MM. Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol. 2013;9(10):562-571.
    • (2013) Nat Rev Neurol. , vol.9 , Issue.10 , pp. 562-571
    • Rossor, A.M.1    Polke, J.M.2    Houlden, H.3    Reilly, M.M.4
  • 51
    • 84922772691 scopus 로고    scopus 로고
    • A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield
    • Ankala A, da Silva C, Gualandi F, et al. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield. Ann Neurol. 2015;77(2):206-214.
    • (2015) Ann Neurol. , vol.77 , Issue.2 , pp. 206-214
    • Ankala, A.1    da Silva, C.2    Gualandi, F.3
  • 52
    • 84880962195 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease: Frequency of genetic subtypes in a German neuromuscular center population
    • Gess B, Schirmacher A, Boentert M, Young P. Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population. Neuromuscul Disord. 2013;23(8):647-651.
    • (2013) Neuromuscul Disord. , vol.23 , Issue.8 , pp. 647-651
    • Gess, B.1    Schirmacher, A.2    Boentert, M.3    Young, P.4
  • 53
    • 84884302150 scopus 로고    scopus 로고
    • Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): The spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies
    • Ostern R, Fagerheim T, Hjellnes H, Nygard B, Mellgren SI, Nilssen O. Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies. BMC Med Genet. 2013;14:94.
    • (2013) BMC Med Genet. , vol.14 , pp. 94
    • Ostern, R.1    Fagerheim, T.2    Hjellnes, H.3    Nygard, B.4    Mellgren, S.I.5    Nilssen, O.6
  • 54
    • 84867454120 scopus 로고    scopus 로고
    • Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease
    • Choi BO, Koo SK, Park MH, et al. Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease. Hum Mutat. 2012;33(11):1610-1615.
    • (2012) Hum Mutat. , vol.33 , Issue.11 , pp. 1610-1615
    • Choi, B.O.1    Koo, S.K.2    Park, M.H.3
  • 55
    • 84937970566 scopus 로고    scopus 로고
    • Whole exome sequencing and the clinician: We need clinical skills and functional validation in variant filtering
    • Daud D, Griffin H, Douroudis K, et al. Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering. J Neurol. 2015;262(7):1673-1677.
    • (2015) J Neurol. , vol.262 , Issue.7 , pp. 1673-1677
    • Daud, D.1    Griffin, H.2    Douroudis, K.3
  • 56
    • 77950475726 scopus 로고    scopus 로고
    • Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
    • Lupski JR, Reid JG, Gonzaga-Jauregui C, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010;362(13):1181-1191.
    • (2010) N Engl J Med. , vol.362 , Issue.13 , pp. 1181-1191
    • Lupski, J.R.1    Reid, J.G.2    Gonzaga-Jauregui, C.3
  • 57
    • 84903906687 scopus 로고    scopus 로고
    • Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease
    • Menezes MP, Waddell L, Lenk GM, et al. Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. Neuromuscul Disord. 2014;24(8):666-670.
    • (2014) Neuromuscul Disord. , vol.24 , Issue.8 , pp. 666-670
    • Menezes, M.P.1    Waddell, L.2    Lenk, G.M.3
  • 58
    • 84904121526 scopus 로고    scopus 로고
    • Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing
    • Hoyer H, Braathen GJ, Busk OL, et al. Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. Biomed Res Int. 2014;2014:210401.
    • (2014) Biomed Res Int. , vol.2014
    • Hoyer, H.1    Braathen, G.J.2    Busk, O.L.3
  • 59
    • 84920036577 scopus 로고    scopus 로고
    • An anterior ankle-foot orthosis improves walking economy in Charcot-Marie-Tooth type 1A patients
    • Menotti F, Laudani L, Damiani A, Mignogna T, Macaluso A. An anterior ankle-foot orthosis improves walking economy in Charcot-Marie-Tooth type 1A patients. Prosthet Orthot Int. 2014;38(5):387-392.
    • (2014) Prosthet Orthot Int. , vol.38 , Issue.5 , pp. 387-392
    • Menotti, F.1    Laudani, L.2    Damiani, A.3    Mignogna, T.4    McAluso, A.5
  • 60
    • 84888292326 scopus 로고    scopus 로고
    • Functional and dynamic response characteristics of a custom composite ankle foot orthosis for Charcot-Marie-Tooth patients
    • Dufek JS, Neumann ES, Hawkins MC, O'Toole B. Functional and dynamic response characteristics of a custom composite ankle foot orthosis for Charcot-Marie-Tooth patients. Gait Posture. 2014;39(1): 308-313.
    • (2014) Gait Posture. , vol.39 , Issue.1 , pp. 308-313
    • Dufek, J.S.1    Neumann, E.S.2    Hawkins, M.C.3    O'Toole, B.4
  • 61
    • 84866312534 scopus 로고    scopus 로고
    • Foot drop splints improve proximal as well as distal leg control during gait in Charcot-Marie-Tooth disease
    • Ramdharry GM, Day BL, Reilly MM, Marsden JF. Foot drop splints improve proximal as well as distal leg control during gait in Charcot-Marie-Tooth disease. Muscle Nerve. 2012;46(4):512-519.
    • (2012) Muscle Nerve. , vol.46 , Issue.4 , pp. 512-519
    • Ramdharry, G.M.1    Day, B.L.2    Reilly, M.M.3    Marsden, J.F.4
  • 62
    • 84861325147 scopus 로고    scopus 로고
    • A pilot study of a crossover trial with randomized use of ankle-foot orthoses for people with Charcot-Marie-Tooth disease
    • Phillips MF, Robertson Z, Killen B, White B. A pilot study of a crossover trial with randomized use of ankle-foot orthoses for people with Charcot-Marie-Tooth disease. Clin Rehabil. 2012;26(6):534-544.
    • (2012) Clin Rehabil. , vol.26 , Issue.6 , pp. 534-544
    • Phillips, M.F.1    Robertson, Z.2    Killen, B.3    White, B.4
  • 63
    • 79960693351 scopus 로고    scopus 로고
    • Assessment of appropriate ankle-foot orthoses models for patients with Charcot-Marie-Tooth disease
    • Guillebastre B, Calmels P, Rougier PR. Assessment of appropriate ankle-foot orthoses models for patients with Charcot-Marie-Tooth disease. Am J Phys Med Rehabil. 2011;90(8):619-627.
    • (2011) Am J Phys Med Rehabil. , vol.90 , Issue.8 , pp. 619-627
    • Guillebastre, B.1    Calmels, P.2    Rougier, P.R.3
  • 64
    • 84857887877 scopus 로고    scopus 로고
    • A thumb opposition splint to improve manual dexterity and upper-limb functioning in Charcot-Marie-Tooth disease
    • Videler A, Eijffinger E, Nollet F, Beelen A. A thumb opposition splint to improve manual dexterity and upper-limb functioning in Charcot-Marie-Tooth disease. J Rehabil Med. 2012;44(3):249-253.
    • (2012) J Rehabil Med. , vol.44 , Issue.3 , pp. 249-253
    • Videler, A.1    Eijffinger, E.2    Nollet, F.3    Beelen, A.4
  • 65
    • 0024584005 scopus 로고
    • Long-term results of triple arthrodesis in Charcot-Marie-Tooth disease
    • Wetmore RS, Drennan JC. Long-term results of triple arthrodesis in Charcot-Marie-Tooth disease. J Bone Joint Surg Am. 1989;71(3):417-422.
    • (1989) J Bone Joint Surg Am. , vol.71 , Issue.3 , pp. 417-422
    • Wetmore, R.S.1    Drennan, J.C.2
  • 66
    • 84893939057 scopus 로고    scopus 로고
    • Tendon transfers in cavovarus foot
    • Ortiz C, Wagner E. Tendon transfers in cavovarus foot. Foot Ankle Clin. 2014;19(1):49-58.
    • (2014) Foot Ankle Clin. , vol.19 , Issue.1 , pp. 49-58
    • Ortiz, C.1    Wagner, E.2
  • 67
    • 84937633009 scopus 로고    scopus 로고
    • Minimally invasive early operative treatment of progressive foot and ankle deformity associated with Charcot-Marie-Tooth disease
    • Boffeli TJ, Tabatt JA. Minimally invasive early operative treatment of progressive foot and ankle deformity associated with Charcot-Marie-Tooth disease. J Foot Ankle Surg. 2015;54(4):701-708.
    • (2015) J Foot Ankle Surg. , vol.54 , Issue.4 , pp. 701-708
    • Boffeli, T.J.1    Tabatt, J.A.2
  • 68
    • 84897013738 scopus 로고    scopus 로고
    • Tibialis posterior tendon transfer corrects the foot drop component of cavovarus foot deformity in Charcot-Marie-Tooth disease
    • Dreher T, Wolf SI, Heitzmann D, Fremd C, Klotz MC, Wenz W. Tibialis posterior tendon transfer corrects the foot drop component of cavovarus foot deformity in Charcot-Marie-Tooth disease. J Bone Joint Surg Am. 2014;96(6):456-462.
    • (2014) J Bone Joint Surg Am. , vol.96 , Issue.6 , pp. 456-462
    • Dreher, T.1    Wolf, S.I.2    Heitzmann, D.3    Fremd, C.4    Klotz, M.C.5    Wenz, W.6
  • 69
    • 84896411035 scopus 로고    scopus 로고
    • Is overwork weakness relevant in Charcot-Marie-Tooth disease?
    • Piscosquito G, Reilly MM, Schenone A, et al. Is overwork weakness relevant in Charcot-Marie-Tooth disease? J Neurol Neurosurg Psychiatr. 2014;85(12):1354-1358.
    • (2014) J Neurol Neurosurg Psychiatr. , vol.85 , Issue.12 , pp. 1354-1358
    • Piscosquito, G.1    Reilly, M.M.2    Schenone, A.3
  • 70
    • 3543143708 scopus 로고    scopus 로고
    • Resistance training effectiveness in patients with Charcot-Marie-Tooth disease: Recommendations for exercise prescription
    • Chetlin RD, Gutmann L, Tarnopolsky M, Ullrich IH, Yeater RA. Resistance training effectiveness in patients with Charcot-Marie-Tooth disease: recommendations for exercise prescription. Arch Phys Med Rehabil. 2004;85(8):1217-1223.
    • (2004) Arch Phys Med Rehabil. , vol.85 , Issue.8 , pp. 1217-1223
    • Chetlin, R.D.1    Gutmann, L.2    Tarnopolsky, M.3    Ullrich, I.H.4    Yeater, R.A.5
  • 71
    • 70449715138 scopus 로고    scopus 로고
    • Feasibility of foot and ankle strength training in childhood Charcot-Marie-Tooth disease
    • Burns J, Raymond J, Ouvrier R. Feasibility of foot and ankle strength training in childhood Charcot-Marie-Tooth disease. Neuromuscul Disord. 2009;19(12):818-821.
    • (2009) Neuromuscul Disord. , vol.19 , Issue.12 , pp. 818-821
    • Burns, J.1    Raymond, J.2    Ouvrier, R.3
  • 73
    • 0029068157 scopus 로고
    • Strength training in patients with myotonic dystrophy and hereditary motor and sensory neuropathy: A randomized clinical trial
    • Lindeman E, Leffers P, Spaans F, et al. Strength training in patients with myotonic dystrophy and hereditary motor and sensory neuropathy: a randomized clinical trial. Arch Phys Med Rehabil. 1995;76(7):612-620.
    • (1995) Arch Phys Med Rehabil. , vol.76 , Issue.7 , pp. 612-620
    • Lindeman, E.1    Leffers, P.2    Spaans, F.3
  • 74
    • 79960680204 scopus 로고    scopus 로고
    • Outcome measures and rehabilitation treatment in patients affected by Charcot-Marie-Tooth neuropathy: A pilot study
    • Maggi G, Monti Bragadin M, Padua L, et al. Outcome measures and rehabilitation treatment in patients affected by Charcot-Marie-Tooth neuropathy: a pilot study. Am J Phys Med Rehabil. 2011;90(8):628-637.
    • (2011) Am J Phys Med Rehabil. , vol.90 , Issue.8 , pp. 628-637
    • Maggi, G.1    Monti Bragadin, M.2    Padua, L.3
  • 75
    • 84879550022 scopus 로고    scopus 로고
    • Ethambutol toxicity exacerbating the phenotype of CMT2A2
    • Fonkem E, Skordilis MA, Binkley EM, et al. Ethambutol toxicity exacerbating the phenotype of CMT2A2. Muscle Nerve. 2013;48(1): 140-144.
    • (2013) Muscle Nerve. , vol.48 , Issue.1 , pp. 140-144
    • Fonkem, E.1    Skordilis, M.A.2    Binkley, E.M.3
  • 76
    • 84912102998 scopus 로고    scopus 로고
    • Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy
    • Beutler AS, Kulkarni AA, Kanwar R, et al. Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy. Ann Neurol. 2014;76(5):727-737.
    • (2014) Ann Neurol. , vol.76 , Issue.5 , pp. 727-737
    • Beutler, A.S.1    Kulkarni, A.A.2    Kanwar, R.3
  • 77
    • 84884978102 scopus 로고    scopus 로고
    • Influence of comorbidities on the phenotype of patients affected by Charcot-Marie-Tooth neuropathy type 1A
    • Ursino G, Alberti MA, Grandis M, et al. Influence of comorbidities on the phenotype of patients affected by Charcot-Marie-Tooth neuropathy type 1A. Neuromuscul Disord. 2013;23(11):902-906.
    • (2013) Neuromuscul Disord. , vol.23 , Issue.11 , pp. 902-906
    • Ursino, G.1    Alberti, M.A.2    Grandis, M.3
  • 78
    • 33644544788 scopus 로고    scopus 로고
    • Medication-induced exacerbation of neuropathy in Charcot Marie Tooth disease
    • Weimer LH, Podwall D. Medication-induced exacerbation of neuropathy in Charcot Marie Tooth disease. J Neurol Sci. 2006;242(1-2):47-54.
    • (2006) J Neurol Sci. , vol.242 , Issue.1-2 , pp. 47-54
    • Weimer, L.H.1    Podwall, D.2
  • 79
    • 84861318858 scopus 로고    scopus 로고
    • Vincristine exacerbates asymptomatic Charcot-Marie-Tooth disease with a novel EGR2 mutation
    • Nakamura T, Hashiguchi A, Suzuki S, Uozumi K, Tokunaga S, Takashima H. Vincristine exacerbates asymptomatic Charcot-Marie-Tooth disease with a novel EGR2 mutation. Neurogenetics. 2012;13(1):77-82.
    • (2012) Neurogenetics. , vol.13 , Issue.1 , pp. 77-82
    • Nakamura, T.1    Hashiguchi, A.2    Suzuki, S.3    Uozumi, K.4    Tokunaga, S.5    Takashima, H.6
  • 80
    • 0021673455 scopus 로고
    • Polyneuropathy following vincristine therapy in two patients with Charcot-Marie-Tooth syndrome
    • Hogan-Dann CM, Fellmeth WG, McGuire SA, Kiley VA. Polyneuropathy following vincristine therapy in two patients with Charcot-Marie-Tooth syndrome. JAMA. 1984;252(20):2862-2863.
    • (1984) JAMA. , vol.252 , Issue.20 , pp. 2862-2863
    • Hogan-Dann, C.M.1    Fellmeth, W.G.2    McGuire, S.A.3    Kiley, V.A.4
  • 81
    • 70349823608 scopus 로고    scopus 로고
    • Low dose vincristine-induced severe polyneuropathy in a Hodgkin lymphoma patient: A case report (vincristine-induced severe polyneuropathy)
    • Cil T, Altintas A, Tamam Y, Battaloglu E, Isikdogan A. Low dose vincristine-induced severe polyneuropathy in a Hodgkin lymphoma patient: a case report (vincristine-induced severe polyneuropathy). J Pediatr Hematol Oncol. 2009;31(10):787-789.
    • (2009) J Pediatr Hematol Oncol. , vol.31 , Issue.10 , pp. 787-789
    • Cil, T.1    Altintas, A.2    Tamam, Y.3    Battaloglu, E.4    Isikdogan, A.5
  • 82
    • 59449102687 scopus 로고    scopus 로고
    • Vincristine induced peripheral neuropathy potentiated by voriconazole in a patient with previously undiagnosed CMT1X
    • Porter CC, Carver AE, Albano EA. Vincristine induced peripheral neuropathy potentiated by voriconazole in a patient with previously undiagnosed CMT1X. Pediatr Blood Cancer. 2009;52(2):298-300.
    • (2009) Pediatr Blood Cancer. , vol.52 , Issue.2 , pp. 298-300
    • Porter, C.C.1    Carver, A.E.2    Albano, E.A.3
  • 83
    • 54449099121 scopus 로고    scopus 로고
    • Severe neurotoxicities in a case of Charcot-Marie-Tooth disease type 2 caused by vincristine for acute lymphoblastic leukemia
    • Nishikawa T, Kawakami K, Kumamoto T, et al. Severe neurotoxicities in a case of Charcot-Marie-Tooth disease type 2 caused by vincristine for acute lymphoblastic leukemia. J Pediatr Hematol Oncol. 2008;30(7):519-521.
    • (2008) J Pediatr Hematol Oncol. , vol.30 , Issue.7 , pp. 519-521
    • Nishikawa, T.1    Kawakami, K.2    Kumamoto, T.3
  • 84
    • 0033778920 scopus 로고    scopus 로고
    • Fulminant peripheral neuropathy with severe quadriparesis associated with vincristine therapy
    • Moudgil SS, Riggs JE. Fulminant peripheral neuropathy with severe quadriparesis associated with vincristine therapy. Ann Pharmacother. 2000;34(10):1136-1138.
    • (2000) Ann Pharmacother. , vol.34 , Issue.10 , pp. 1136-1138
    • Moudgil, S.S.1    Riggs, J.E.2
  • 85
    • 84882375832 scopus 로고    scopus 로고
    • High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: Results of a randomized, double-masked, controlled trial
    • Lewis RA, McDermott MP, Herrmann DN, et al. High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial. JAMA Neurol. 2013;70(8): 981-987.
    • (2013) JAMA Neurol. , vol.70 , Issue.8 , pp. 981-987
    • Lewis, R.A.1    McDermott, M.P.2    Herrmann, D.N.3
  • 86
    • 72149100190 scopus 로고    scopus 로고
    • Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: A multicentre, randomised, double-blind, placebo-controlled trial
    • Micallef J, Attarian S, Dubourg O, et al. Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Neurol. 2009;8(12):1103-1110.
    • (2009) Lancet Neurol. , vol.8 , Issue.12 , pp. 1103-1110
    • Micallef, J.1    Attarian, S.2    Dubourg, O.3
  • 87
    • 79952736703 scopus 로고    scopus 로고
    • Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): A double-blind randomised trial
    • Pareyson D, Reilly MM, Schenone A, et al. Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol. 2011;10(4):320-328.
    • (2011) Lancet Neurol. , vol.10 , Issue.4 , pp. 320-328
    • Pareyson, D.1    Reilly, M.M.2    Schenone, A.3
  • 88
    • 84890539303 scopus 로고    scopus 로고
    • Ascorbic acid and sodium-dependent vitamin C transporters in the peripheral nervous system: From basic science to clinical trials
    • Gess B, Rohr D, Young P. Ascorbic acid and sodium-dependent vitamin C transporters in the peripheral nervous system: from basic science to clinical trials. Antioxid Redox Signal. 2013;19(17): 2105-2114.
    • (2013) Antioxid Redox Signal. , vol.19 , Issue.17 , pp. 2105-2114
    • Gess, B.1    Rohr, D.2    Young, P.3
  • 89
    • 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(4):396-401.
    • (2004) Nat Med. , vol.10 , Issue.4 , pp. 396-401
    • Passage, E.1    Norreel, J.C.2    Noack-Fraissignes, P.3
  • 90
    • 80055025449 scopus 로고    scopus 로고
    • Extended treatment of childhood Charcot-Marie-Tooth disease with high-dose ascorbic acid
    • Burns J, Ouvrier RA, Yiu EM, Ryan MM. Extended treatment of childhood Charcot-Marie-Tooth disease with high-dose ascorbic acid. J Peripher Nerv Syst. 2011;16(3):272-274.
    • (2011) J Peripher Nerv Syst. , vol.16 , Issue.3 , pp. 272-274
    • Burns, J.1    Ouvrier, R.A.2    Yiu, E.M.3    Ryan, M.M.4
  • 91
    • 33846798265 scopus 로고    scopus 로고
    • Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy
    • Meyer zu Horste G, Prukop T, Liebetanz D, Mobius W, Nave KA, Sereda MW. Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy. Ann Neurol. 2007;61(1):61-72.
    • (2007) Ann Neurol. , vol.61 , Issue.1 , pp. 61-72
    • Meyer zu Horste, G.1    Prukop, T.2    Liebetanz, D.3    Mobius, W.4    Nave, K.A.5    Sereda, M.W.6
  • 92
    • 0347185347 scopus 로고    scopus 로고
    • Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A)
    • Sereda MW, Meyer zu Horste G, Suter U, Uzma N, Nave KA. Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nat Med. 2003;9(12): 1533-1537.
    • (2003) Nat Med. , vol.9 , Issue.12 , pp. 1533-1537
    • Sereda, M.W.1    Meyer zu Horste, G.2    Suter, U.3    Uzma, N.4    Nave, K.A.5
  • 93
    • 84871760898 scopus 로고    scopus 로고
    • Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice
    • Patzko A, Bai Y, Saporta MA, et al. Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice. Brain. 2012;135(Pt 12):3551-3566.
    • (2012) Brain. , vol.135 , pp. 3551-3566
    • Patzko, A.1    Bai, Y.2    Saporta, M.A.3
  • 94
    • 84944918850 scopus 로고    scopus 로고
    • Unfolded protein response, treatment and CMT1B
    • Bai Y, Patzko A, Shy ME. Unfolded protein response, treatment and CMT1B. Rare Dis. 2013;1:e24049.
    • (2013) Rare Dis. , vol.1
    • Bai, Y.1    Patzko, A.2    Shy, M.E.3
  • 95
    • 79961168180 scopus 로고    scopus 로고
    • HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease
    • d'Ydewalle C, Krishnan J, Chiheb DM, et al. HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease. Nat Med. 2011;17(8):968-974.
    • (2011) Nat Med. , vol.17 , Issue.8 , pp. 968-974
    • d'Ydewalle, C.1    Krishnan, J.2    Chiheb, D.M.3
  • 96
    • 84979562049 scopus 로고    scopus 로고
    • An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A
    • Attarian S, Vallat JM, Magy L, et al. An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A. Orphanet J Rare Dis. 2014;9:199.
    • (2014) Orphanet J Rare Dis. , vol.9 , pp. 199
    • Attarian, S.1    Vallat, J.M.2    Magy, L.3
  • 97
    • 84924985851 scopus 로고    scopus 로고
    • Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathy
    • Chumakov I, Milet A, Cholet N, et al. Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathy. Orphanet J Rare Dis. 2014;9:201.
    • (2014) Orphanet J Rare Dis. , vol.9 , pp. 201
    • Chumakov, I.1    Milet, A.2    Cholet, N.3
  • 98
    • 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, et al. NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients. Neurology. 2005;65(5):681-689.
    • (2005) Neurology. , vol.65 , Issue.5 , pp. 681-689
    • Sahenk, Z.1    Nagaraja, H.N.2    McCracken, B.S.3
  • 99
    • 84895502260 scopus 로고    scopus 로고
    • AAV1.NT-3 gene therapy for Charcot-Marie-Tooth neuropathy
    • Sahenk Z, Galloway G, Clark KR, et al. AAV1.NT-3 gene therapy for Charcot-Marie-Tooth neuropathy. Mol Ther. 2014;22(3):511-521.
    • (2014) Mol Ther. , vol.22 , Issue.3 , pp. 511-521
    • Sahenk, Z.1    Galloway, G.2    Clark, K.R.3
  • 100
    • 84861476097 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease: Emerging mechanisms and therapies
    • d'Ydewalle C, Benoy V, Van Den Bosch L. Charcot-Marie-Tooth disease: emerging mechanisms and therapies. Int J Biochem Cell Biol. 2012;44(8):1299-1304.
    • (2012) Int J Biochem Cell Biol. , vol.44 , Issue.8 , pp. 1299-1304
    • d'Ydewalle, C.1    Benoy, V.2    Van Den Bosch, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.