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Volumn 7, Issue 6, 2011, Pages 305-306

Molecular diagnosis of Charcotg-Marieg-Tooth disease

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CMT1A GENE; DIAGNOSTIC ACCURACY; DISEASE CLASSIFICATION; ELECTRODIAGNOSIS; FAMILY HISTORY; GENE; GENE DUPLICATION; GENETIC ALGORITHM; GENETIC SCREENING; GJB1 GENE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MFN2 GENE; MOTOR NERVE CONDUCTION; NERVE BIOPSY; POINT MUTATION; PRIORITY JOURNAL; VERTICAL TRANSMISSION; CLASSIFICATION; DEMYELINATING DISEASE; GENETICS; MUTATION; NERVE FIBER; NEUROLOGIC EXAMINATION; PATHOLOGY; PERIPHERAL NEUROPATHY; PHENOTYPE;

EID: 79958234539     PISSN: 17594758     EISSN: 17594766     Source Type: Journal    
DOI: 10.1038/nrneurol.2011.72     Document Type: Article
Times cited : (10)

References (8)
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    • Pareyson, D.1    Marchesi, C.2
  • 2
    • 0029058673 scopus 로고
    • From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins
    • Harding, A. E. From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins. Brain 118, 809-818 (1995).
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    • Harding, A.E.1
  • 3
    • 79551488413 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease subtypes and genetic testing strategies
    • Saporta A. S., et al. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann. Neurol. 69, 2233 (2011).
    • (2011) Ann. Neurol. , vol.69 , pp. 22-33
    • Saporta, A.S.1
  • 4
    • 79551474508 scopus 로고    scopus 로고
    • The death panel for Charcot-Marie-Tooth panels
    • Amato, A. A. & Reilly M. M. The death panel for Charcot-Marie-Tooth panels. Ann. Neurol. 69, 14 (2011).
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    • Amato, A.A.1    Reilly, M.M.2
  • 5
    • 60549087147 scopus 로고    scopus 로고
    • Practice Parameter: Evaluation of distal symmetric polyneuropathy: Role of autonomic testing, nerve biopsy, and skin biopsy (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, J. D., et al. Practice Parameter: evaluation of distal symmetric polyneuropathy: role of autonomic testing, nerve biopsy, and skin biopsy (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 72, 177-184 (2009).
    • (2009) Neurology , vol.72 , pp. 177-184
    • England, J.D.1
  • 6
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    • Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease
    • Dubourg, O., et al. Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease. Neuromolecular Med. 8, 75-86 (2006).
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  • 7
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    • Initial semeilogy in children with Charcot-Marie-Tooth disease type 1A duplication
    • Berciano, J., García, A. & Combarros, O. Initial semeilogy in children with Charcot-Marie-Tooth disease type 1A duplication. Muscle Nerve 27, 24-39 (2003).
    • (2003) Muscle Nerve , vol.27 , pp. 24-39
    • Berciano, J.1    García, A.2    Combarros, O.3
  • 8
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    • Evolution of foot and ankle manifestations in children with CMT1A
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.