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Volumn 20, Issue 5, 2014, Pages 1208-1225

Charcot-marie-tooth disease and other inherited neuropathies

(1)  Saporta, Mario A a  

a NONE   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; CLINICAL PRACTICE; COHORT ANALYSIS; DISEASE MANAGEMENT; FAMILIAL AMYLOID POLYNEUROPATHY; GENETIC COUNSELING; GENETIC DISORDER; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MOLECULAR DIAGNOSIS; MOTOR NEUROPATHY; NERVE CONDUCTION VELOCITY; NEUROREHABILITATION; NEXT GENERATION SEQUENCING; NONHUMAN; ONSET AGE; PERIPHERAL NEUROPATHY; PHASE 2 CLINICAL TRIAL (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); PRACTICE GUIDELINE; RANDOMIZED CONTROLLED TRIAL (TOPIC); REVIEW; RISK FACTOR; SENSORY NEUROPATHY;

EID: 84988814973     PISSN: 10802371     EISSN: 15386899     Source Type: Journal    
DOI: 10.1212/01.CON.0000455885.37169.4c     Document Type: Review
Times cited : (28)

References (20)
  • 1
    • 0016266593 scopus 로고
    • Genetic and clinical aspects of charcot-marie-tooth's disease
    • Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 1974;6(2):98-118.
    • (1974) Clin Genet , vol.6 , Issue.2 , pp. 98-118
    • Skre, H.1
  • 2
    • 84868107456 scopus 로고    scopus 로고
    • Genetic epidemiology of charcot-marie-tooth disease
    • Braathen GJ. Genetic epidemiology of Charcot-Marie-Tooth disease. Acta Neurol Scand Suppl 2012;(193):iv-22.
    • (2012) Acta Neurol Scand Suppl , Issue.193 , pp. iv-22
    • Braathen, G.J.1
  • 3
    • 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
  • 4
    • 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 Psychiatry 2012;83(7):706-710.
    • (2012) J Neurol Neurosurg Psychiatry , vol.83 , Issue.7 , pp. 706-710
    • Murphy, S.M.1    Laura, M.2    Fawcett, K.3
  • 5
    • 60549116496 scopus 로고    scopus 로고
    • Practice parameter: Evaluation of distal symmetric polyneuropathy: Role of laboratory and genetic testing (an evidence-based review)
    • Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation
    • England JD, Gronseth GS, Franklin G, et al. Practice parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation. Neurology 2009;72(2):185-192.
    • (2009) Neurology , vol.72 , Issue.2 , pp. 185-192
    • England, J.D.1    Gronseth, G.S.2    Franklin, G.3
  • 6
    • 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
  • 7
    • 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
  • 8
    • 79953286746 scopus 로고    scopus 로고
    • Exome sequencing allows for rapid gene identification in a charcot-marie-tooth family
    • Montenegro G, Powell E, Huang J, et al. Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Ann Neurol 2011;69(3):464-470.
    • (2011) Ann Neurol , vol.69 , Issue.3 , pp. 464-470
    • Montenegro, G.1    Powell, E.2    Huang, J.3
  • 9
    • 84885785987 scopus 로고    scopus 로고
    • Clinical whole-exome sequencing for the diagnosis of mendelian disorders
    • Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 2013;369(16):1502-1511.
    • (2013) N Engl J Med , vol.369 , Issue.16 , pp. 1502-1511
    • Yang, Y.1    Muzny, D.M.2    Reid, J.G.3
  • 10
    • 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
  • 11
    • 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
  • 12
    • 58449116120 scopus 로고    scopus 로고
    • Diabetes mellitus exacerbates motor and sensory impairment in CMT1A
    • Sheth S, Francies K, Siskind CE, et al. Diabetes mellitus exacerbates motor and sensory impairment in CMT1A. J Peripher Nerv Syst 2008;13(4):299-304.
    • (2008) J Peripher Nerv Syst , vol.13 , Issue.4 , pp. 299-304
    • Sheth, S.1    Francies, K.2    Siskind, C.E.3
  • 13
    • 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
  • 14
    • 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):537-544.
    • (2009) Lancet Neurol , vol.8 , Issue.6 , pp. 537-544
    • Burns, J.1    Ouvrier, R.A.2    Yiu, E.M.3
  • 15
    • 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
  • 16
    • 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
  • 17
    • 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
  • 18
    • 84862222705 scopus 로고    scopus 로고
    • Tafamidis for transthyretin familial amyloid polyneuropathy: A randomized, controlled trial
    • Coelho T, Maia LF, Martins da Silva A, et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology 2012;79(8):785-792.
    • (2012) Neurology , vol.79 , Issue.8 , pp. 785-792
    • Coelho, T.1    Maia, L.F.2    Martins Da Silva, A.3
  • 19
    • 84889238225 scopus 로고    scopus 로고
    • Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy
    • Coelho T, Maia LF, da Silva AM, et al. Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy. J Neurol 2013;260(11):2802-2814.
    • (2013) J Neurol , vol.260 , Issue.11 , pp. 2802-2814
    • Coelho, T.1    Maia, L.F.2    Da Silva, A.M.3
  • 20
    • 84883118140 scopus 로고    scopus 로고
    • Safety and efficacy of RNAi therapy for transthyretin amyloidosis
    • Coelho T, Adams D, Silva A, et al. Safety and efficacy of RNAi therapy for transthyretin amyloidosis. N Engl J Med 2013;369(9):819-829.
    • (2013) N Engl J Med , vol.369 , Issue.9 , pp. 819-829
    • Coelho, T.1    Adams, D.2    Silva, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.