메뉴 건너뛰기




Volumn 15, Issue 4, 2015, Pages 355-366

Therapeutic options in Charcot-Marie-Tooth diseases

Author keywords

animal model; Charcot Marie Tooth disease; CMT; dHMN; GJB1; MPZ; myelin; PMP22

Indexed keywords

NEUROTROPHIC FACTOR;

EID: 84925864114     PISSN: 14737175     EISSN: 17448360     Source Type: Journal    
DOI: 10.1586/14737175.2015.1017471     Document Type: Review
Times cited : (16)

References (119)
  • 1
    • 78650079774 scopus 로고    scopus 로고
    • Genetic epidemiology of charcot-marie-Tooth in the general population
    • Braathen GJ, Sand JC, Lobato A, et al.Genetic epidemiology of Charcot-Marie-Tooth in the general population.Eur J Neurol 2011; 18(1): 39-48
    • (2011) Eur J Neurol , vol.18 , Issue.1 , pp. 39-48
    • Braathen, G.J.1    Sand, J.C.2    Lobato, A.3
  • 2
    • 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 Méd 1886; 6: 97-138
    • (1886) Rev Méd , vol.6 , pp. 97-138
    • Charcot, J.M.1    Marie, P.2
  • 4
    • 0025868571 scopus 로고
    • DNA duplication associated with Charcot-Marie-Tooth disease type 1A
    • Lupski JR, de Oca-Luna RM, Slaugenhaupt S, et al.DNA duplication associated with Charcot-Marie-Tooth disease type 1A.Cell 1991; 66(2): 219-32
    • (1991) Cell , vol.66 , Issue.2 , pp. 219-232
    • Lupski, J.R.1    De Oca-Luna, R.M.2    Slaugenhaupt, S.3
  • 5
    • 0025997898 scopus 로고
    • Duplication in chromosome 17p11.2 in charcot-marie-Tooth neuropathy type 1a (cmt 1a
    • The HMSN Collaborative Research Group
    • Raeymaekers P, Timmerman V, Nelis E, et al.Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a).The HMSN Collaborative Research Group.Neuromuscul Disord 1991; 1(2): 93-7
    • (1991) Neuromuscul Disord , vol.1 , Issue.2 , pp. 93-97
    • Raeymaekers, P.1    Timmerman, V.2    Nelis, E.3
  • 6
    • 84883820862 scopus 로고    scopus 로고
    • The various charcot-marie-Tooth diseases
    • Vallat JM, Mathis S, Funalot B.The various Charcot-Marie-Tooth diseases.Curr Opin Neurol 2013; 26(5): 473-80
    • (2013) Curr Opin Neurol , vol.26 , Issue.5 , pp. 473-480
    • Vallat, J.M.1    Mathis, S.2    Funalot, B.3
  • 7
    • 84891546678 scopus 로고    scopus 로고
    • Animal models and therapeutic prospects for charcot-marie-Tooth disease
    • Bouhy D, Timmerman V.Animal models and therapeutic prospects for Charcot-Marie-Tooth disease.Ann Neurol 2013; 74(3): 391-6
    • (2013) Ann Neurol , vol.74 , Issue.3 , pp. 391-396
    • Bouhy, D.1    Timmerman, V.2
  • 8
    • 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): 1036-42
    • (2014) JAMA Neurol , vol.71 , Issue.8 , pp. 1036-1042
    • Bombelli, F.1    Stojkovic, T.2    Dubourg, O.3
  • 9
    • 84925882428 scopus 로고    scopus 로고
    • Available from
    • Available from: www.molgen.ua.ac.be/.CMTMutations
  • 10
    • 79551488413 scopus 로고    scopus 로고
    • Charcot-marie-Tooth disease subtypes and genetic testing strategies
    • Saporta AS, Sottile SL, Miller LJ, et al.Charcot-Marie-Tooth disease subtypes and genetic testing strategies.Ann Neurol 2011; 69(1): 22-33
    • (2011) Ann Neurol , vol.69 , Issue.1 , pp. 22-33
    • Saporta, A.S.1    Sottile, S.L.2    Miller, L.J.3
  • 11
    • 84885668385 scopus 로고    scopus 로고
    • Clinical implications of genetic advances in charcot-marie-Tooth disease
    • Rossor AM, Polke JM, Houlden H, et al.Clinical implications of genetic advances in Charcot-Marie-Tooth disease.Nat Rev Neurol 2013; 9(10): 562-71
    • (2013) Nat Rev Neurol , vol.9 , Issue.10 , pp. 562-571
    • Rossor, A.M.1    Polke, J.M.2    Houlden, H.3
  • 12
    • 84882866259 scopus 로고    scopus 로고
    • Hereditary motor and sensory neuropathies: An overview of clinical, genetic, electrophysiologic, and pathologic features
    • In: Dyck P, Thomas P, editors Elsevier Saunders Philadelphia
    • Shy ME, Lupski JR, Chance PF, et al.Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophysiologic, and pathologic features.In: Dyck P, Thomas P, editors.Peripheral neuropathy.Elsevier Saunders; Philadelphia: 2005.p.1623-58
    • (2005) Peripheral Neuropathy , pp. 1623-1658
    • Shy, M.E.1    Lupski, J.R.2    Chance, P.F.3
  • 13
    • 0018949405 scopus 로고
    • Genetic aspects of hereditary motor and sensory neuropathy (types i and ii
    • Harding AE, Thomas PK.Genetic aspects of hereditary motor and sensory neuropathy (types I and II).J Med Genet 1980; 17(5): 329-36
    • (1980) J Med Genet , vol.17 , Issue.5 , pp. 329-336
    • Harding, A.E.1    Thomas, P.K.2
  • 14
    • 35648943770 scopus 로고    scopus 로고
    • Rare myelin protein zero sequence variant in late onset CMT1B
    • Souayah N, Seltzer WK, Brannagan TH, et al.Rare myelin protein zero sequence variant in late onset CMT1B.J Neurol Sci 2007; 263(1-2): 177-9
    • (2007) J Neurol Sci , vol.263 , Issue.1-2 , pp. 177-179
    • Souayah, N.1    Seltzer, W.K.2    Brannagan, T.H.3
  • 15
    • 0002649152 scopus 로고
    • Sur la névrite interstitielle hypertrophique et progressive de l'enfant
    • Dejerine J, Sottas J.Sur la névrite interstitielle, hypertrophique et progressive de l'enfant C r soc biol 1893; 45: 63-96
    • (1893) C R Soc Biol , vol.45 , pp. 63-96
    • Dejerine, J.1    Sottas, J.2
  • 16
    • 82455162395 scopus 로고    scopus 로고
    • Hereditary peripheral neuropathies of childhood: An overview for clinicians
    • Wilmshurst JM, Ouvrier R.Hereditary peripheral neuropathies of childhood: an overview for clinicians.Neuromuscul Disord 2011; 21(11): 763-75
    • (2011) Neuromuscul Disord , vol.21 , Issue.11 , pp. 763-775
    • Wilmshurst, J.M.1    Ouvrier, R.2
  • 17
    • 60149083988 scopus 로고    scopus 로고
    • Molecular mechanisms of inherited demyelinating neuropathies
    • Scherer SS, Wrabetz L.Molecular mechanisms of inherited demyelinating neuropathies.Glia 2008; 56(14): 1578-89
    • (2008) Glia , vol.56 , Issue.14 , pp. 1578-1589
    • Scherer, S.S.1    Wrabetz, L.2
  • 18
    • 16044362374 scopus 로고    scopus 로고
    • Clinical phenotypes of different mpz p0) mutations may include charcot-marie-Tooth type 1b, dejerine-sottas, and congenital hypomyelination
    • Warner LE, Hilz MJ, Appel SH, et al.Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.Neuron 1996; 17(3): 451-60
    • (1996) Neuron , vol.17 , Issue.3 , pp. 451-460
    • Warner, L.E.1    Hilz, M.J.2    Appel, S.H.3
  • 19
    • 0038504662 scopus 로고    scopus 로고
    • Dominantly inherited peripheral neuropathies
    • Vallat JM.Dominantly inherited peripheral neuropathies.J Neuropathol Exp Neurol 2003; 62(7): 699-714
    • (2003) J Neuropathol Exp Neurol , vol.62 , Issue.7 , pp. 699-714
    • Vallat, J.M.1
  • 20
    • 84925873447 scopus 로고
    • The development and structure of peripheral nerves in vertebrate
    • Vinken RJ, Bryuyn GW, editors Elsevier North-Holland New York
    • Wechsler W.The development and structure of peripheral nerves in vertebrate.In: Vinken RJ, Bryuyn GW, editors.Diseases of nerves (Part I).Elsevier North-Holland; New York: 1970.p.1-39
    • (1970) Diseases of Nerves (Part i , pp. 1-39
    • Wechsler, W.1
  • 21
  • 22
    • 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, et al.The natural history of Charcot-Marie-Tooth type 1A in adults: a 5-year follow-up study.Brain 2009; 132(12): 3252-62
    • (2009) Brain , vol.132 , Issue.12 , pp. 3252-3262
    • Verhamme, C.1    Van Schaik, I.N.2    Koelman, J.H.3
  • 23
    • 78650170260 scopus 로고    scopus 로고
    • 168th enmc international workshop: Outcome measures and clinical trials in charcot-marie-Tooth disease (cmt
    • Reilly MM, Shy ME, Muntoni F, et al.168th ENMC International Workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT).Neuromuscul Disord 2010.20(12): 839-46
    • (2010) Neuromuscul Disord , vol.20 , Issue.12 , pp. 839-846
    • Reilly, M.M.1    Shy, M.E.2    Muntoni, F.3
  • 24
    • 84916624190 scopus 로고    scopus 로고
    • Recommendations to enable drug development for inherited neuropathies: Charcot-marie-Tooth and giant axonal neuropathy
    • Sames L, Moore A, Arnold R, et al.Recommendations to enable drug development for inherited neuropathies: charcot-Marie-Tooth and Giant Axonal Neuropathy.F1000Res 2014; 3: 83
    • (2014) F1000Res , vol.3 , pp. 83
    • Sames, L.1    Moore, A.2    Arnold, R.3
  • 25
    • 34848865034 scopus 로고    scopus 로고
    • Development of a french isometric strength normative database for adults using quantitative muscle testing
    • Hogrel JY, Payan CA, Ollivier G, et al.Development of a French isometric strength normative database for adults using quantitative muscle testing.Arch Phys Med Rehabil 2007; 88(10): 1289-97
    • (2007) Arch Phys Med Rehabil , vol.88 , Issue.10 , pp. 1289-1297
    • Hogrel, J.Y.1    Payan, C.A.2    Ollivier, G.3
  • 26
    • 84886727215 scopus 로고    scopus 로고
    • Motor function measure: Validation of a short form for young children with neuromuscular diseases
    • de Lattre C, Payan C, Vuillerot C, et al.Motor function measure: validation of a short form for young children with neuromuscular diseases.Arch Phys Med Rehabil 2013; 94(11): 2218-26
    • (2013) Arch Phys Med Rehabil , vol.94 , Issue.11 , pp. 2218-2226
    • De Lattre, C.1    Payan, C.2    Vuillerot, C.3
  • 27
    • 84922276682 scopus 로고    scopus 로고
    • Selected items from the charcot-marie-Tooth (cmt) neuropathy score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in cmt1a patients
    • Mannil M, Solari A, Leha A, et al.Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients.Neuromuscul Disord 2014; 24(11): 1003-17
    • (2014) Neuromuscul Disord , vol.24 , Issue.11 , pp. 1003-1017
    • Mannil, M.1    Solari, A.2    Leha, A.3
  • 28
    • 16844381836 scopus 로고    scopus 로고
    • Reliability and validity of the cmt neuropathy score as a measure of disability
    • Shy ME, Blake J, Krajewski K, et al.Reliability and validity of the CMT neuropathy score as a measure of disability.Neurology 2005; 64(7): 1209-14
    • (2005) Neurology , vol.64 , Issue.7 , pp. 1209-1214
    • Shy, M.E.1    Blake, J.2    Krajewski, K.3
  • 29
    • 84875618128 scopus 로고    scopus 로고
    • Anterior tibialis cmap amplitude correlations with impairment in cmt1a
    • Komyathy K, Neal S, Feely S, et al.Anterior tibialis CMAP amplitude correlations with impairment in CMT1A.Muscle Nerve 2013; 47(4): 493-6
    • (2013) Muscle Nerve , vol.47 , Issue.4 , pp. 493-496
    • Komyathy, K.1    Neal, S.2    Feely, S.3
  • 30
    • 80055011529 scopus 로고    scopus 로고
    • Reliability of the cmt neuropathy score (second version) in charcot-marie-Tooth disease
    • Murphy SM, Herrmann DN, McDermott MP, et al.Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.J Peripher Nerv Syst 2011; 16(3): 191-8
    • (2011) J Peripher Nerv Syst , vol.16 , Issue.3 , pp. 191-198
    • Murphy, S.M.1    Herrmann, D.N.2    McDermott, M.P.3
  • 31
    • 84860173207 scopus 로고    scopus 로고
    • Validation of the charcot-marie-Tooth disease pediatric scale as an outcome measure of disability
    • Burns J, Ouvrier R, Estilow T, et al.Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability.Ann Neurol 2012; 71(5): 642-52
    • (2012) Ann Neurol , vol.71 , Issue.5 , pp. 642-652
    • Burns, J.1    Ouvrier, R.2    Estilow, T.3
  • 32
    • 38649125200 scopus 로고    scopus 로고
    • Reliability of clinical outcome measures in charcot-marie-Tooth disease
    • Solari A, Laura M, Salsano E, et al.Reliability of clinical outcome measures in Charcot-Marie-Tooth disease.Neuromuscul Disord 2008; 18(1): 19-26
    • (2008) Neuromuscul Disord , vol.18 , Issue.1 , pp. 19-26
    • Solari, A.1    Laura, M.2    Salsano, E.3
  • 33
    • 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, et al.Resistance training effectiveness in patients with Charcot-Marie-Tooth disease: recommendations for exercise prescription.Arch Phys Med Rehabil 2004; 85(8): 1217-23
    • (2004) Arch Phys Med Rehabil , vol.85 , Issue.8 , pp. 1217-1223
    • Chetlin, R.D.1    Gutmann, L.2    Tarnopolsky, M.3
  • 34
    • 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 Psychiatry 2014; 85(12): 1354-8
    • (2014) J Neurol Neurosurg Psychiatry , vol.85 , Issue.12 , pp. 1354-1358
    • Piscosquito, G.1    Reilly, M.M.2    Schenone, A.3
  • 35
    • 84921996678 scopus 로고    scopus 로고
    • Postural stabilization and balance assessment in charcot-marie-Tooth 1a subjects
    • Lencioni T, Rabuffetti M, Piscosquito G, et al.Postural stabilization and balance assessment in Charcot-Marie-Tooth 1A subjects.Gait Posture 2014; 40(4): 481-6
    • (2014) Gait Posture , vol.40 , Issue.4 , pp. 481-486
    • Lencioni, T.1    Rabuffetti, M.2    Piscosquito, G.3
  • 36
    • 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, et al.Functional and dynamic response characteristics of a custom composite ankle foot orthosis for Charcot-Marie-Tooth patients.Gait Posture 2014; 39(1): 308-13
    • (2014) Gait Posture , vol.39 , Issue.1 , pp. 308-313
    • Dufek, J.S.1    Neumann, E.S.2    Hawkins, M.C.3
  • 37
    • 84901631612 scopus 로고    scopus 로고
    • Rehabilitation for charcot marie tooth: A survey study of patients and familiar/.caregiver perspective and perception of efficacy and needs
    • Padua L, Pazzaglia C, Schenone A, et al.Rehabilitation for Charcot Marie tooth: a survey study of patients and familiar/.caregiver perspective and perception of efficacy and needs.Eur J Phys Rehabil Med 2014; 50(1): 25-30
    • (2014) Eur J Phys Rehabil Med , vol.50 , Issue.1 , pp. 25-30
    • Padua, L.1    Pazzaglia, C.2    Schenone, A.3
  • 38
    • 84887326301 scopus 로고    scopus 로고
    • Joint sparing correction of cavovarus feet in Charcot-Marie-Tooth disease: What are the limits?
    • Barton T, Winson I.Joint sparing correction of cavovarus feet in Charcot-Marie-Tooth disease: what are the limits?.Foot Ankle Clin 2013; 18(4): 673-88
    • (2013) Foot Ankle Clin , vol.18 , Issue.4 , pp. 673-688
    • Barton, T.1    Winson, I.2
  • 39
    • 84932123850 scopus 로고    scopus 로고
    • Botulinum toxin treatment of pes cavovarus in a child suffering from autosomal recessive axonal charcot-marie-Tooth neuropathy (ar-cmt2
    • In press
    • Tiffreau V, Allart E, Dangleterre C, et al.Botulinum toxin treatment of pes cavovarus in a child suffering from autosomal recessive axonal Charcot-Marie-Tooth neuropathy (AR-CMT2).Eur J Phys Rehabil Med 2014; In press
    • (2014) Eur J Phys Rehabil Med
    • Tiffreau, V.1    Allart, E.2    Dangleterre, C.3
  • 40
    • 84870392536 scopus 로고    scopus 로고
    • Flexor digitorum superficialis opposition tendon transfer improves hand function in children with charcot-marie-Tooth disease: Case series
    • Estilow T, Kozin SH, Glanzman AM, et al.Flexor digitorum superficialis opposition tendon transfer improves hand function in children with Charcot-Marie-Tooth disease: case series.Neuromuscul Disord 2012; 22(12): 1090-5
    • (2012) Neuromuscul Disord , vol.22 , Issue.12 , pp. 1090-1095
    • Estilow, T.1    Kozin, S.H.2    Glanzman, A.M.3
  • 41
    • 0028115887 scopus 로고
    • Hip abnormalities in children with charcot-marie-Tooth disease
    • Walker JL, Nelson KR, Heavilon JA, et al.Hip abnormalities in children with Charcot-Marie-Tooth disease.J Pediatr Orthop 1994; 14(1): 54-9
    • (1994) J Pediatr Orthop , vol.14 , Issue.1 , pp. 54-59
    • Walker, J.L.1    Nelson, K.R.2    Heavilon, J.A.3
  • 42
    • 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, et al.Hip dysplasia is more severe in Charcot-Marie-Tooth disease than in developmental dysplasia of the hip.Clin Orthop Relat Res 2013; 472(2): 665-73
    • (2013) Clin Orthop Relat Res , vol.472 , Issue.2 , pp. 665-673
    • Novais, E.N.1    Bixby, S.D.2    Rennick, J.3
  • 43
    • 25444509520 scopus 로고    scopus 로고
    • Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I
    • Kalkman JS, Schillings ML, van der Werf SP, et al.Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I.J Neurol Neurosurg Psychiatry 2005; 76(10): 1406-9
    • (2005) J Neurol Neurosurg Psychiatry , vol.76 , Issue.10 , pp. 1406-1409
    • Kalkman, J.S.1    Schillings, M.L.2    Van Der Werf, S.P.3
  • 44
    • 84870015962 scopus 로고    scopus 로고
    • Exploring the experience of fatigue in people with charcot-marie-Tooth disease
    • Ramdharry GM, Thornhill A, Mein G, et al.Exploring the experience of fatigue in people with Charcot-Marie-Tooth disease.Neuromuscul Disord 2012; 22(Suppl 3): S208-13
    • (2012) Neuromuscul Disord , vol.22 , pp. S208-S213
    • Ramdharry, G.M.1    Thornhill, A.2    Mein, G.3
  • 45
    • 34247281200 scopus 로고    scopus 로고
    • Modafinil reduces fatigue in charcot-marie-Tooth disease type 1a: A case series
    • Carter GT, Han JJ, Mayadev A, et al.Modafinil reduces fatigue in Charcot-Marie-Tooth disease type 1A: a case series.Am J Hosp Palliat Care 2006; 23(5): 412-16
    • (2006) Am J Hosp Palliat Care , vol.23 , Issue.5 , pp. 412-416
    • Carter, G.T.1    Han, J.J.2    Mayadev, A.3
  • 46
    • 84897965938 scopus 로고    scopus 로고
    • Lower urinary tract functions in a series of charcot-marie-Tooth neuropathy patients
    • Krhut J, Mazanec R, Seeman P, et al.Lower urinary tract functions in a series of Charcot-Marie-Tooth neuropathy patients.Acta Neurol Scand 2013; 129(5): 319-24
    • (2013) Acta Neurol Scand , vol.129 , Issue.5 , pp. 319-324
    • Krhut, J.1    Mazanec, R.2    Seeman, P.3
  • 47
    • 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): 160-73
    • (2012) Ann Phys Rehabil Med , vol.55 , Issue.3 , pp. 160-173
    • Ribiere, C.1    Bernardin, M.2    Sacconi, S.3
  • 48
    • 84901719538 scopus 로고    scopus 로고
    • Charcot-marie-Tooth disease psychiatric indicators and quality of life: A systematic review
    • Cordeiro JL, Marques W, Hallak JE, et al.Charcot-Marie-Tooth disease, psychiatric indicators and quality of life: a systematic review.ASN Neuro 2014; 6(3): 185-92
    • (2014) ASN Neuro , vol.6 , Issue.3 , pp. 185-192
    • Cordeiro, J.L.1    Marques, W.2    Hallak, J.E.3
  • 49
    • 84896701892 scopus 로고    scopus 로고
    • Young psleep disorders in charcot-marie-Tooth disease type 1
    • Boentert M, Knop K, Schuhmacher C, et al.Young P.Sleep disorders in Charcot-Marie-Tooth disease type 1.J Neurol Neurosurg Psychiatry 2014; 85(3): 319-25
    • (2014) J Neurol Neurosurg Psychiatry , vol.85 , Issue.3 , pp. 319-325
    • Boentert, M.1    Knop, K.2    Schuhmacher, C.3
  • 50
    • 33847149997 scopus 로고    scopus 로고
    • Disorders of pulmonary function, sleep, and the upper airway in charcot-marie-Tooth disease
    • Aboussouan LS, Lewis RA, Shy ME.Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth disease.Lung 2007; 185(1): 1-7
    • (2007) Lung , vol.185 , Issue.1 , pp. 1-7
    • Aboussouan, L.S.1    Lewis, R.A.2    Shy, M.E.3
  • 51
    • 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): 397-9
    • (2013) J Exerc Rehabil , vol.9 , Issue.4 , pp. 397-399
    • Jeong, N.Y.1    Shin, Y.H.2    Jung, J.3
  • 52
    • 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
  • 53
    • 0036248012 scopus 로고    scopus 로고
    • Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A
    • Robertson AM, Perea J, McGuigan A, et al.Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A.J Anat 2002; 200(4): 377-90
    • (2002) J Anat , vol.200 , Issue.4 , pp. 377-390
    • Robertson, A.M.1    Perea, J.2    McGuigan, A.3
  • 54
    • 0029877942 scopus 로고    scopus 로고
    • Construction of a mouse model of charcot-marie-Tooth disease type 1a by pronuclear injection of human yac dna
    • Huxley C, Passage E, Manson A, et al.Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA.Hum Mol Genet 1996; 5(5): 563-9
    • (1996) Hum Mol Genet , vol.5 , Issue.5 , pp. 563-569
    • Huxley, C.1    Passage, E.2    Manson, A.3
  • 55
    • 6844255894 scopus 로고    scopus 로고
    • Correlation between varying levels of pmp22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice
    • Huxley C, Passage E, Robertson AM, et al.Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice.Hum Mol Genet 1998; 7(3): 449-58
    • (1998) Hum Mol Genet , vol.7 , Issue.3 , pp. 449-458
    • Huxley, C.1    Passage, E.2    Robertson, A.M.3
  • 56
    • 0029843863 scopus 로고    scopus 로고
    • Impaired differentiation of schwann cells in transgenic mice with increased pmp22 gene dosage
    • Magyar JP, Martini R, Ruelicke T, et al.Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage.J Neurosci 1996; 16(17): 5351-60
    • (1996) J Neurosci , vol.16 , Issue.17 , pp. 5351-5360
    • Magyar, J.P.1    Martini, R.2    Ruelicke, T.3
  • 57
    • 15844393894 scopus 로고    scopus 로고
    • A transgenic rat model of charcot-marie-Tooth disease
    • Sereda M, Griffiths I, Puhlhofer A, et al.A transgenic rat model of Charcot-Marie-Tooth disease.Neuron 1996; 16(5): 1049-60
    • (1996) Neuron , vol.16 , Issue.5 , pp. 1049-1060
    • Sereda, M.1    Griffiths, I.2    Puhlhofer, A.3
  • 58
    • 84861812079 scopus 로고    scopus 로고
    • Murine therapeutic models for charcot-marie-Tooth (cmt) disease
    • Fledrich R, Stassart RM, Sereda MW.Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease.Br Med Bull 2012; 102: 89-113
    • (2012) Br Med Bull , vol.102 , pp. 89-113
    • Fledrich, R.1    Stassart, R.M.2    Sereda, M.W.3
  • 59
    • 0026605507 scopus 로고
    • Trembler mouse carries a point mutation in a myelin gene
    • Suter U, Welcher AA, Ozcelik T, et al.Trembler mouse carries a point mutation in a myelin gene.Nature 1992; 356(6366): 241-4
    • (1992) Nature , vol.356 , Issue.6366 , pp. 241-244
    • Suter, U.1    Welcher, A.A.2    Ozcelik, T.3
  • 60
    • 0026554289 scopus 로고
    • A leucine-To-proline mutation in the putative first transmembrane domain of the 22-kda peripheral myelin protein in the trembler-j mouse
    • Suter U, Moskow JJ, Welcher AA, et al.A leucine-To-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse.Proc Natl Acad Sci USA 1992; 89(10): 4382-6
    • (1992) Proc Natl Acad Sci USA , vol.89 , Issue.10 , pp. 4382-4386
    • Suter, U.1    Moskow, J.J.2    Welcher, A.A.3
  • 61
    • 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, et al.Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A).Nat Med 2003; 9(12): 1533-7
    • (2003) Nat Med , vol.9 , Issue.12 , pp. 1533-1537
    • Sereda, M.W.1    Meyer Zu Horste, G.2    Suter, U.3
  • 62
    • 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
  • 63
    • 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): 511-21
    • (2014) Mol Ther , vol.22 , Issue.3 , pp. 511-521
    • Sahenk, Z.1    Galloway, G.2    Clark, K.R.3
  • 64
    • 34548219064 scopus 로고    scopus 로고
    • Oral curcumin mitigates the clinical and neuropathologic phenotype of the trembler-j mouse: A potential therapy for inherited neuropathy
    • Khajavi M, Shiga K, Wiszniewski W, et al.Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.Am J Hum Genet 2007; 81(3): 438-53
    • (2007) Am J Hum Genet , vol.81 , Issue.3 , pp. 438-453
    • Khajavi, M.1    Shiga, K.2    Wiszniewski, W.3
  • 65
    • 0028326190 scopus 로고
    • X linked charcot-marie-Tooth disease (cmtx1): A study of 15 families with 12 highly informative polymorphisms
    • Cochrane S, Bergoffen J, Fairweather ND, et al.X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.J Med Genet 1994; 31(3): 193-6
    • (1994) J Med Genet , vol.31 , Issue.3 , pp. 193-196
    • Cochrane, S.1    Bergoffen, J.2    Fairweather, N.D.3
  • 66
    • 33745246046 scopus 로고    scopus 로고
    • Molecular genetics of x-linked charcot-marie-Tooth disease
    • Kleopa KA, Scherer SS.Molecular genetics of X-linked Charcot-Marie-Tooth disease.Neuromolecular Med 2006; 8(1-2): 107-22
    • (2006) Neuromolecular Med , vol.8 , Issue.1-2 , pp. 107-122
    • Kleopa, K.A.1    Scherer, S.S.2
  • 67
    • 33745822464 scopus 로고    scopus 로고
    • The effects of a dominant connexin32 mutant in myelinating schwann cells
    • Jeng LJ, Balice-Gordon RJ, Messing A, et al.The effects of a dominant connexin32 mutant in myelinating Schwann cells.Mol Cell Neurosci 2006; 32(3): 283-98
    • (2006) Mol Cell Neurosci , vol.32 , Issue.3 , pp. 283-298
    • Jeng, L.J.1    Balice-Gordon, R.J.2    Messing, A.3
  • 68
    • 33750336046 scopus 로고    scopus 로고
    • Myelin formation structure and biochemistry
    • In: Brady S Siegel G Albers W Price D editors Lippincott -Raven Philadelphia
    • Quarles RH, Macklin WB, Morell P.Myelin formation, structure and biochemistry.In: Brady S, Siegel G, Albers W, Price D, editors.Basic neurochemistry: molecular, cellular and medical aspects.Lippincott-Raven; Philadelphia: 2006.p.51-71
    • (2006) Basic Neurochemistry: Molecular Cellular and Medical Aspects , pp. 51-71
    • Quarles, R.H.1    MacKlin, W.B.2    Morell, P.3
  • 69
    • 33645636345 scopus 로고    scopus 로고
    • Different intracellular pathomechanisms produce diverse myelin protein zero neuropathies in transgenic mice
    • Wrabetz L, D'Antonio M, Pennuto M, et al.Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice.J Neurosci 2006; 26(8): 2358-68
    • (2006) J Neurosci , vol.26 , Issue.8 , pp. 2358-2368
    • Wrabetz, L.1    D'antonio, M.2    Pennuto, M.3
  • 70
    • 0028824925 scopus 로고
    • Protein zero p0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies
    • Martini R, Zielasek J, Toyka KV, et al.Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies.Nat Genet 1995; 11(3): 281-6
    • (1995) Nat Genet , vol.11 , Issue.3 , pp. 281-286
    • Martini, R.1    Zielasek, J.2    Toyka, K.V.3
  • 71
    • 84878632676 scopus 로고    scopus 로고
    • Resetting translational homeostasis restores myelination in charcot-marie-Tooth disease type 1b mice
    • D'Antonio M, Musner N, Scapin C, et al.Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B mice.J Exp Med 2013; 210(4): 821-38
    • (2013) J Exp Med , vol.210 , Issue.4 , pp. 821-838
    • D'antonio, M.1    Musner, N.2    Scapin, C.3
  • 72
    • 79961163495 scopus 로고    scopus 로고
    • Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2
    • Ajroud-Driss S, Deng HX, Siddique T.Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.Curr Neurol Neurosci Rep 2011; 11(3): 262-73
    • (2011) Curr Neurol Neurosci Rep , vol.11 , Issue.3 , pp. 262-273
    • Ajroud-Driss, S.1    Deng, H.X.2    Siddique, T.3
  • 73
    • 0028116467 scopus 로고
    • A mutant neurofilament subunit causes massive, selective motor neuron death: Implications for the pathogenesis of human motor neuron disease
    • Lee MK, Marszalek JR, Cleveland DW.A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease.Neuron 1994; 13(4): 975-88
    • (1994) Neuron , vol.13 , Issue.4 , pp. 975-988
    • Lee, M.K.1    Marszalek, J.R.2    Cleveland, D.W.3
  • 74
    • 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): 968-74
    • (2011) Nat Med , vol.17 , Issue.8 , pp. 968-974
    • D'ydewalle, C.1    Krishnan, J.2    Chiheb, D.M.3
  • 75
    • 77953562076 scopus 로고    scopus 로고
    • Dlg1-pten interaction regulates myelin thickness to prevent damaging peripheral nerve overmyelination
    • Cotter L, Ozcelik M, Jacob C, et al.Dlg1-PTEN interaction regulates myelin thickness to prevent damaging peripheral nerve overmyelination.Science 2010; 328(5984): 1415-18
    • (2010) Science , vol.328 , Issue.5984 , pp. 1415-1418
    • Cotter, L.1    Ozcelik, M.2    Jacob, C.3
  • 76
    • 28744436993 scopus 로고    scopus 로고
    • An animal model for charcot-marie-Tooth disease type 4b1
    • Bonneick S, Boentert M, Berger P, et al.An animal model for Charcot-Marie-Tooth disease type 4B1.Hum Mol Genet 2005; 14(23): 3685-95
    • (2005) Hum Mol Genet , vol.14 , Issue.23 , pp. 3685-3695
    • Bonneick, S.1    Boentert, M.2    Berger, P.3
  • 77
    • 67650882733 scopus 로고    scopus 로고
    • Dominant mutations in the tyrosyl-Trna synthetase gene recapitulate in drosophila features of human charcot-marie-Tooth neuropathy
    • Storkebaum E, Leitao-Goncalves R, Godenschwege T, et al.Dominant mutations in the tyrosyl-TRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy.Proc Natl Acad Sci USA 2009; 106(28): 11782-7
    • (2009) Proc Natl Acad Sci USA , vol.106 , Issue.28 , pp. 11782-11787
    • Storkebaum, E.1    Leitao-Goncalves, R.2    Godenschwege, T.3
  • 79
    • 65549159213 scopus 로고    scopus 로고
    • Ascorbic acid for charcot-marie-Tooth disease type 1a in children: A randomised, double-blind, placebo-controlled, safety and efficacy trial
    • Burns J, Ouvrier RA, Yiu EM, et al.Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.Lancet Neurol 2009; 8(6): 537-44
    • (2009) Lancet Neurol , vol.8 , Issue.6 , pp. 537-544
    • Burns, J.1    Ouvrier, R.A.2    Yiu, E.M.3
  • 80
    • 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): 1103-10
    • (2009) Lancet Neurol , vol.8 , Issue.12 , pp. 1103-1110
    • Micallef, J.1    Attarian, S.2    Dubourg, O.3
  • 81
    • 71049172916 scopus 로고    scopus 로고
    • Oral high dose ascorbic acid treatment for one year in young cmt1a patients: A randomised, double-blind, placebo-controlled phase ii trial
    • Verhamme C, de Haan RJ, Vermeulen M, et al.Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial.BMC Med 2009; 7: 70
    • (2009) BMC Med , vol.7 , pp. 70
    • Verhamme, C.1    De Haan, R.J.2    Vermeulen, M.3
  • 82
    • 79952736703 scopus 로고    scopus 로고
    • Ascorbic acid in charcot-marie-Tooth disease type 1a (cmt-Triaal and cmttrauk): 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 CMTTRAUK): a double-blind randomised trial.Lancet Neurol 2011; 10(4): 320-8
    • (2011) Lancet Neurol , vol.10 , Issue.4 , pp. 320-328
    • Pareyson, D.1    Reilly, M.M.2    Schenone, A.3
  • 83
    • 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): 2105-14
    • (2013) Antioxid Redox Signal , vol.19 , Issue.17 , pp. 2105-2114
    • Gess, B.1    Rohr, D.2    Young, P.3
  • 84
    • 84877980543 scopus 로고    scopus 로고
    • Vitamin c and charcot-marie-Tooth 1a: Pharmacokinetic considerations
    • Visioli F, Reilly MM, Rimoldi M, et al.Vitamin C and Charcot-Marie-Tooth 1A: pharmacokinetic considerations.PharmaNutrition 2013; 1(1): 10-12
    • (2013) PharmaNutrition , vol.1 , Issue.1 , pp. 10-12
    • Visioli, F.1    Reilly, M.M.2    Rimoldi, M.3
  • 85
    • 0029052144 scopus 로고
    • Progesterone synthesis and myelin formation by schwann cells
    • Koenig HL, Schumacher M, Ferzaz B, et al.Progesterone synthesis and myelin formation by Schwann cells.Science 1995; 268(5216): 1500-3
    • (1995) Science , vol.268 , Issue.5216 , pp. 1500-1503
    • Koenig, H.L.1    Schumacher, M.2    Ferzaz, B.3
  • 86
    • 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, et al.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
    • Meyerzu Horste, G.1    Prukop, T.2    Liebetanz, D.3
  • 87
    • 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(1): 199
    • (2014) Orphanet J Rare Dis , vol.9 , Issue.1 , pp. 199
    • Attarian, S.1    Vallat, J.M.2    Magy, L.3
  • 89
    • 84871971567 scopus 로고    scopus 로고
    • Therapeutic roles of curcumin: Lessons learned from clinical trials
    • Gupta SC, Patchva S, Aggarwal BB.Therapeutic roles of curcumin: lessons learned from clinical trials.AAPS J 2013; 15(1): 195-218
    • (2013) AAPS J , vol.15 , Issue.1 , pp. 195-218
    • Gupta, S.C.1    Patchva, S.2    Aggarwal, B.B.3
  • 90
    • 77953615306 scopus 로고    scopus 로고
    • Curcumin as a therapeutic agent: The evidence from in vitro, animal and human studies
    • Epstein J, Sanderson IR, Macdonald TT.Curcumin as a therapeutic agent: the evidence from in vitro, animal and human studies.Br J Nutr 2010; 103(11): 1545-57
    • (2010) Br J Nutr , vol.103 , Issue.11 , pp. 1545-1557
    • Epstein, J.1    Sanderson, I.R.2    MacDonald, T.T.3
  • 91
    • 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(12): 3551-66
    • (2012) Brain , vol.135 , Issue.12 , pp. 3551-3566
    • Patzko, A.1    Bai, Y.2    Saporta, M.A.3
  • 92
    • 69949149569 scopus 로고    scopus 로고
    • Effect of oral curcumin on dejerine-sottas disease
    • Burns J, Joseph PD, Rose KJ, et al.Effect of oral curcumin on Dejerine-Sottas disease.Pediatr Neurol 2009; 41(4): 305-8
    • (2009) Pediatr Neurol , vol.41 , Issue.4 , pp. 305-308
    • Burns, J.1    Joseph, P.D.2    Rose, K.J.3
  • 93
    • 84892542773 scopus 로고    scopus 로고
    • The effects of resveratrol on chronic constriction injury of sciatic nerve in rats
    • Bagriyanik HA, Ersoy N, Cetinkaya C, et al.The effects of resveratrol on chronic constriction injury of sciatic nerve in rats.Neurosci Lett 2014; 561: 123-7
    • (2014) Neurosci Lett , vol.561 , pp. 123-127
    • Bagriyanik, H.A.1    Ersoy, N.2    Cetinkaya, C.3
  • 94
    • 84879471266 scopus 로고    scopus 로고
    • The protective effects of resveratrol on schwann cells with toxicity induced by ethanol in vitro
    • Yuan H, Zhang J, Liu H, Li Z.The protective effects of resveratrol on Schwann cells with toxicity induced by ethanol in vitro.Neurochem Int 2013; 63(3): 146-53
    • (2013) Neurochem Int , vol.63 , Issue.3 , pp. 146-153
    • Yuan, H.1    Zhang, J.2    Liu, H.3    Li, Z.4
  • 95
    • 84922204364 scopus 로고    scopus 로고
    • Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies
    • Epub ahead of print
    • Jerath NU, Shy ME.Hereditary motor and sensory neuropathies: understanding molecular pathogenesis could lead to future treatment strategies.Biochim Biophys Acta 2014.[Epub ahead of print
    • (2014) Biochim Biophys Acta
    • Jerath, N.U.1    Shy, M.E.2
  • 96
    • 84921650777 scopus 로고    scopus 로고
    • A novel role for histone deacetylase 6 in the regulation of the tolerogenic stat3/il-10 pathway in apcs
    • Cheng F, Lienlaf M, Wang HW, et al.A novel role for histone deacetylase 6 in the regulation of the tolerogenic STAT3/IL-10 pathway in APCs.J Immunol 2014; 193(6): 2850-62
    • (2014) J Immunol , vol.193 , Issue.6 , pp. 2850-2862
    • Cheng, F.1    Lienlaf, M.2    Wang, H.W.3
  • 97
    • 84878934230 scopus 로고    scopus 로고
    • Heterogeneity in the properties of nefl mutants causing charcot-marie-Tooth disease results in differential effects on neurofilament assembly and susceptibility to intervention by the chaperone-inducer, celastrol
    • Gentil BJ, Mushynski WE, Durham HD.Heterogeneity in the properties of NEFL mutants causing Charcot-Marie-Tooth disease results in differential effects on neurofilament assembly and susceptibility to intervention by the chaperone-inducer, celastrol.Int J Biochem Cell Biol 2013; 45(7): 1499-508
    • (2013) Int J Biochem Cell Biol , vol.45 , Issue.7 , pp. 1499-1508
    • Gentil, B.J.1    Mushynski, W.E.2    Durham, H.D.3
  • 98
    • 0035369840 scopus 로고    scopus 로고
    • Trk receptors: Mediators of neurotrophin action
    • Patapoutian A, Reichardt LF.Trk receptors: mediators of neurotrophin action.Curr Opin Neurobiol 2001; 11(3): 272-80
    • (2001) Curr Opin Neurobiol , vol.11 , Issue.3 , pp. 272-280
    • Patapoutian, A.1    Reichardt, L.F.2
  • 99
    • 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): 681-9
    • (2005) Neurology , vol.65 , Issue.5 , pp. 681-689
    • Sahenk, Z.1    Nagaraja, H.N.2    McCracken, B.S.3
  • 100
    • 84867897183 scopus 로고    scopus 로고
    • Shedding new light on neurodegenerative diseases through the mammalian target of rapamycin
    • Chong ZZ, Shang YC, Wang S, et al.Shedding new light on neurodegenerative diseases through the mammalian target of rapamycin.Prog Neurobiol 2012; 99(2): 128-48
    • (2012) Prog Neurobiol , vol.99 , Issue.2 , pp. 128-148
    • Chong, Z.Z.1    Shang, Y.C.2    Wang, S.3
  • 101
    • 77956124566 scopus 로고    scopus 로고
    • Rapamycin activates autophagy and improves myelination in explant cultures from neuropathic mice
    • Rangaraju S, Verrier JD, Madorsky I, et al.Rapamycin activates autophagy and improves myelination in explant cultures from neuropathic mice.J Neurosci 2010; 30(34): 11388-97
    • (2010) J Neurosci , vol.30 , Issue.34 , pp. 11388-11397
    • Rangaraju, S.1    Verrier, J.D.2    Madorsky, I.3
  • 102
    • 84904875584 scopus 로고    scopus 로고
    • Rapamycin improves peripheral nerve myelination while it fails to benefit neuromuscular performance in neuropathic mice
    • Nicks J, Lee S, Harris A, et al.Rapamycin improves peripheral nerve myelination while it fails to benefit neuromuscular performance in neuropathic mice.Neurobiol Dis 2014; 70: 224-36
    • (2014) Neurobiol Dis , vol.70 , pp. 224-236
    • Nicks, J.1    Lee, S.2    Harris, A.3
  • 103
    • 84887956948 scopus 로고    scopus 로고
    • The diadenosine homodinucleotide P18 improves in vitro myelination in experimental Charcot-Marie-Tooth type 1A
    • Nobbio L, Visigalli D, Mannino E, et al.The diadenosine homodinucleotide P18 improves in vitro myelination in experimental Charcot-Marie-Tooth type 1A.J Cell Biochem 2014; 115(1): 161-7
    • (2014) J Cell Biochem , vol.115 , Issue.1 , pp. 161-167
    • Nobbio, L.1    Visigalli, D.2    Mannino, E.3
  • 104
    • 0346097880 scopus 로고    scopus 로고
    • Coexistent hereditary and inflammatory neuropathy
    • Ginsberg L, Malik O, Kenton AR, et al.Coexistent hereditary and inflammatory neuropathy.Brain 2004; 127(1): 193-202
    • (2004) Brain , vol.127 , Issue.1 , pp. 193-202
    • Ginsberg, L.1    Malik, O.2    Kenton, A.R.3
  • 105
    • 77957668498 scopus 로고    scopus 로고
    • Coexistence of two chronic neuropathies in a young child: Charcot-marie-Tooth disease type 1a and chronic inflammatory demyelinating polyneuropathy
    • Marques W Jr, Funayama CA, Secchin JB, et al.Coexistence of two chronic neuropathies in a young child: charcot-Marie-Tooth disease type 1A and chronic inflammatory demyelinating polyneuropathy.Muscle Nerve 2010; 42(4): 598-600
    • (2010) Muscle Nerve , vol.42 , Issue.4 , pp. 598-600
    • Marques, W.1    Funayama, C.A.2    Secchin, J.B.3
  • 106
    • 0037429649 scopus 로고    scopus 로고
    • Neuregulins: Functions, forms, and signaling strategies
    • Falls DL.Neuregulins: functions, forms, and signaling strategies.Exp Cell Res 2003; 284(1): 14-30
    • (2003) Exp Cell Res , vol.284 , Issue.1 , pp. 14-30
    • Falls, D.L.1
  • 107
    • 2342444048 scopus 로고    scopus 로고
    • Axonal neuregulin-1 regulates myelin sheath thickness
    • Michailov GV, Sereda MW, Brinkmann BG, et al.Axonal neuregulin-1 regulates myelin sheath thickness.Science 2004; 304(5671): 700-3
    • (2004) Science , vol.304 , Issue.5671 , pp. 700-703
    • Michailov, G.V.1    Sereda, M.W.2    Brinkmann, B.G.3
  • 108
    • 84908336422 scopus 로고    scopus 로고
    • Soluble neuregulin-1 modulates disease pathogenesis in rodent models of charcot-marie-Tooth disease 1a
    • Fledrich R, Stassart RM, Klink A, et al.Soluble neuregulin-1 modulates disease pathogenesis in rodent models of Charcot-Marie-Tooth disease 1A.Nat Med 2014; 20(9): 1055-61
    • (2014) Nat Med , vol.20 , Issue.9 , pp. 1055-1061
    • Fledrich, R.1    Stassart, R.M.2    Klink, A.3
  • 109
    • 3042668916 scopus 로고    scopus 로고
    • Neuregulins and the neuromuscular system: 10 years of answers and questions
    • Falls DL.Neuregulins and the neuromuscular system: 10 years of answers and questions.J Neurocytol 2003; 32(5-8): 619-47
    • (2003) J Neurocytol , vol.32 , Issue.5-8 , pp. 619-647
    • Falls, D.L.1
  • 110
    • 33749044823 scopus 로고    scopus 로고
    • Axonal regulation of myelination by neuregulin 1
    • Nave KA, Salzer JL.Axonal regulation of myelination by neuregulin 1.Curr Opin Neurobiol 2006; 16(5): 492-500
    • (2006) Curr Opin Neurobiol , vol.16 , Issue.5 , pp. 492-500
    • Nave, K.A.1    Salzer, J.L.2
  • 111
    • 84868301344 scopus 로고    scopus 로고
    • Hypermyelination and overexpression of neuregulin-1 in thoracic sympathetic nerves in patients with primary palmar hyperhidrosis
    • Tu Y, Luo R, Li X, et al.Hypermyelination and overexpression of neuregulin-1 in thoracic sympathetic nerves in patients with primary palmar hyperhidrosis.J Clin Neurosci 2012; 19(12): 1651-3
    • (2012) J Clin Neurosci , vol.19 , Issue.12 , pp. 1651-1653
    • Tu, Y.1    Luo, R.2    Li, X.3
  • 112
    • 23944503110 scopus 로고    scopus 로고
    • Neuregulin-1 type iii determines the ensheathment fate of axons
    • Taveggia C, Zanazzi G, Petrylak A, et al.Neuregulin-1 type III determines the ensheathment fate of axons.Neuron 2005; 47(5): 681-94
    • (2005) Neuron , vol.47 , Issue.5 , pp. 681-694
    • Taveggia, C.1    Zanazzi, G.2    Petrylak, A.3
  • 113
    • 84879605850 scopus 로고    scopus 로고
    • Sh3tc2 deficiency affects neuregulin-1/erbb signaling
    • Gouttenoire EA, Lupo V, Calpena E, et al.Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.Glia 2013; 61(7): 1041-51
    • (2013) Glia , vol.61 , Issue.7 , pp. 1041-1051
    • Gouttenoire, E.A.1    Lupo, V.2    Calpena, E.3
  • 114
    • 84877088340 scopus 로고    scopus 로고
    • Peptide mimetic of the s100a4 protein modulates peripheral nerve regeneration and attenuates the progression of neuropathy in myelin protein p0 null mice
    • Moldovan M, Pinchenko V, Dmytriyeva O, et al.Peptide mimetic of the S100A4 protein modulates peripheral nerve regeneration and attenuates the progression of neuropathy in myelin protein P0 null mice.Mol Med 2013; 19: 43-53
    • (2013) Mol Med , vol.19 , pp. 43-53
    • Moldovan, M.1    Pinchenko, V.2    Dmytriyeva, O.3
  • 115
    • 84872185416 scopus 로고    scopus 로고
    • Coenzyme q10 prevents peripheral neuropathy and attenuates neuron loss in the db-/db- mouse a type 2 diabetes model
    • Shi TJ, Zhang MD, Zeberg H, et al.Coenzyme Q10 prevents peripheral neuropathy and attenuates neuron loss in the db-/db- mouse, a type 2 diabetes model.Proc Natl Acad Sci USA 2013; 110(2): 690-5
    • (2013) Proc Natl Acad Sci USA , vol.110 , Issue.2 , pp. 690-695
    • Shi, T.J.1    Zhang, M.D.2    Zeberg, H.3
  • 116
    • 84859337851 scopus 로고    scopus 로고
    • Coenzyme q10 therapy in hereditary motor sensory neuropathy type vi with novel mitofusin 2 mutation
    • Takahashi R, Ikeda T, Hamaguchi A, et al.Coenzyme Q10 therapy in hereditary motor sensory neuropathy type VI with novel mitofusin 2 mutation.Intern Med 2012; 51(7): 791-3
    • (2012) Intern Med , vol.51 , Issue.7 , pp. 791-793
    • Takahashi, R.1    Ikeda, T.2    Hamaguchi, A.3
  • 117
    • 0022540504 scopus 로고
    • Dietary essential fatty acids, vitamin e, and charcot-marie-Tooth disease
    • Williams LL, O'Dougherty MM, Wright FS, et al.Dietary essential fatty acids, vitamin E, and Charcot-Marie-Tooth disease.Neurology 1986; 36(9): 1200-5
    • (1986) Neurology , vol.36 , Issue.9 , pp. 1200-1205
    • Williams, L.L.1    O'dougherty, M.M.2    Wright, F.S.3
  • 118
    • 33750427890 scopus 로고    scopus 로고
    • Effects of exercise and creatine on myosin heavy chain isoform composition in patients with charcot-marie-Tooth disease
    • Smith CA, Chetlin RD, Gutmann L, et al.Effects of exercise and creatine on myosin heavy chain isoform composition in patients with Charcot-Marie-Tooth disease.Muscle Nerve 2006; 34(5): 586-94
    • (2006) Muscle Nerve , vol.34 , Issue.5 , pp. 586-594
    • Smith, C.A.1    Chetlin, R.D.2    Gutmann, L.3
  • 119
    • 0023756767 scopus 로고
    • Double-blind controlled trials of cronassial in chronic neuromuscular diseases and ataxia
    • Bradley WG, Badger GJ, Tandan R, et al.Double-blind controlled trials of Cronassial in chronic neuromuscular diseases and ataxia.Neurology 1988; 38(11): 1731-9
    • (1988) Neurology , vol.38 , Issue.11 , pp. 1731-1739
    • Bradley, W.G.1    Badger, G.J.2    Tandan, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.