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Volumn 60, Issue 10, 2003, Pages 1721-1722

Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins?

Author keywords

[No Author keywords available]

Indexed keywords

GADOLINIUM; IMMUNOGLOBULIN; MYELIN PROTEIN; PERIPHERAL MYELIN PROTEIN 22; STEROID; UNCLASSIFIED DRUG;

EID: 0038813880     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000059262.34846.8A     Document Type: Article
Times cited : (27)

References (7)
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    • DNA duplication associated with Charcot-Marie-Tooth disease type 1A
    • Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991;66:219-232.
    • (1991) Cell , vol.66 , pp. 219-232
    • Lupski, J.R.1    Montes de Oca-Luna, R.2    Slaugenhaupt, S.3
  • 2
    • 0031031995 scopus 로고    scopus 로고
    • Patients homozygous For the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease
    • LeGuern E, Gouider R, Mabin D, et al. Patients homozygous For the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease. Ann Neurol 1997;41:104-108.
    • (1997) Ann Neurol , vol.41 , pp. 104-108
    • LeGuern, E.1    Gouider, R.2    Mabin, D.3
  • 3
    • 0030785663 scopus 로고    scopus 로고
    • Clinical and electrophysiological phenotype of a homozygously duplicated Charcot-Marie-Tooth (type 1A) disease
    • Sturtz FG, Latour P, Mocquard Y, et al. Clinical and electrophysiological phenotype of a homozygously duplicated Charcot-Marie-Tooth (type 1A) disease. Eur Neurol 1997;38:26-30.
    • (1997) Eur Neurol , vol.38 , pp. 26-30
    • Sturtz, F.G.1    Latour, P.2    Mocquard, Y.3
  • 4
    • 0031799468 scopus 로고    scopus 로고
    • Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: A cross-sectional morphometric and immunohistochemical study in twenty cases
    • Fabrizi GM, Simonati A, Morbin M, et al. Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases. Muscle Nerve 1998;21:869-877.
    • (1998) Muscle Nerve , vol.21 , pp. 869-877
    • Fabrizi, G.M.1    Simonati, A.2    Morbin, M.3
  • 5
    • 0344973033 scopus 로고    scopus 로고
    • PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A
    • Young P, Stogbauer F, Wiebusch H, et al. PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A. Neurology 1998;50:760-763.
    • (1998) Neurology , vol.50 , pp. 760-763
    • Young, P.1    Stogbauer, F.2    Wiebusch, H.3
  • 6
    • 0033541102 scopus 로고    scopus 로고
    • Compression of spinal cord and cauda equina in Charcot-Marie-Tooth disease type 1A
    • Bütefisch C, Gutmann L, Gutmann L. Compression of spinal cord and cauda equina in Charcot-Marie-Tooth disease type 1A. Neurology 1999; 52:890-891.
    • (1999) Neurology , vol.52 , pp. 890-891
    • Bütefisch, C.1    Gutmann, L.2    Gutmann, L.3
  • 7
    • 0036037752 scopus 로고    scopus 로고
    • Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/PO
    • Simonati A, Fabrizi GM, Taioli F, Polo A, Cerini R, Rizzuto N. Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/PO. J Neurol 2002;249:1298-1302.
    • (2002) J Neurol , vol.249 , pp. 1298-1302
    • Simonati, A.1    Fabrizi, G.M.2    Taioli, F.3    Polo, A.4    Cerini, R.5    Rizzuto, N.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.