메뉴 건너뛰기




Volumn 52, Issue 6, 1999, Pages 1271-1275

A novel MPZ gene mutation in dominantly inherited neuropathy with locally folded myelin sheaths

Author keywords

[No Author keywords available]

Indexed keywords

ISOLEUCINE; MYELIN PROTEIN; PHENYLALANINE;

EID: 0032947668     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.52.6.1271     Document Type: Article
Times cited : (33)

References (10)
  • 1
    • 0027504559 scopus 로고
    • Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex
    • Umehara F, Takenaga S, Nakagawa M, et al. Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex. Acta Neuropathol 1993;86:602-608.
    • (1993) Acta Neuropathol , vol.86 , pp. 602-608
    • Umehara, F.1    Takenaga, S.2    Nakagawa, M.3
  • 2
    • 0028079552 scopus 로고
    • Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome
    • Thomas FP, Lebo RV, Rosoklija G, et al. Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome. Acta Neuropathol 1994;87:91-97.
    • (1994) Acta Neuropathol , vol.87 , pp. 91-97
    • Thomas, F.P.1    Lebo, R.V.2    Rosoklija, G.3
  • 4
    • 0031443763 scopus 로고    scopus 로고
    • Tomaculous neuropathy in Charcot-Marie-Tooth disease with myelin protein zero gene mutation
    • Tachi N, Kozuka N, Ohya K, Chiba S, Sasaki K. Tomaculous neuropathy in Charcot-Marie-Tooth disease with myelin protein zero gene mutation. J Neurol Sci 1997;153:106-109.
    • (1997) J Neurol Sci , vol.153 , pp. 106-109
    • Tachi, N.1    Kozuka, N.2    Ohya, K.3    Chiba, S.4    Sasaki, K.5
  • 5
    • 0030993366 scopus 로고    scopus 로고
    • Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: A 20-year study
    • Bird TD, Kraft GH, Lipe HP, Kenney KL, Sumi SM. Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study. Ann Neurol 1997;41:463-469.
    • (1997) Ann Neurol , vol.41 , pp. 463-469
    • Bird, T.D.1    Kraft, G.H.2    Lipe, H.P.3    Kenney, K.L.4    Sumi, S.M.5
  • 6
    • 0031942903 scopus 로고    scopus 로고
    • Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B)
    • Gambardella A, Bolino A, Muglia M, et al. Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B). Neurology 1998;50:799-801.
    • (1998) Neurology , vol.50 , pp. 799-801
    • Gambardella, A.1    Bolino, A.2    Muglia, M.3
  • 8
    • 0027486810 scopus 로고
    • Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
    • Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet 1993;5:269-273.
    • (1993) Nat Genet , vol.5 , pp. 269-273
    • Roa, B.B.1    Dyck, P.J.2    Marks, H.G.3    Chance, P.F.4    Lupski, J.R.5
  • 10
    • 16044362374 scopus 로고    scopus 로고
    • 0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination
    • 0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 1996;17:451-460.
    • (1996) Neuron , vol.17 , pp. 451-460
    • Warner, L.E.1    Hilz, M.J.2    Appel, S.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.