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Volumn 62, Issue 8, 2004, Pages 1429-1431

Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E

Author keywords

[No Author keywords available]

Indexed keywords

PERIPHERAL MYELIN PROTEIN 22; PROLINE; SERINE;

EID: 1942473714     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000120664.07186.3C     Document Type: Article
Times cited : (108)

References (10)
  • 1
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    • A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
    • Mersiyanova IV, Perepelov AV, Polyakov AV, et al. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet 2000,67:37-46.
    • (2000) Am J Hum Genet , vol.67 , pp. 37-46
    • Mersiyanova, I.V.1    Perepelov, A.V.2    Polyakov, A.V.3
  • 2
    • 0035136847 scopus 로고    scopus 로고
    • Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E
    • De Jonghe P, Mersiyanova IV, Nelis E, et al. Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann Neurol 2001,49:245-249.
    • (2001) Ann Neurol , vol.49 , pp. 245-249
    • De Jonghe, P.1    Mersiyanova, I.V.2    Nelis, E.3
  • 3
    • 0037370894 scopus 로고    scopus 로고
    • Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease
    • Jordanova A, De Jonghe P, Boerkoel CF, et al. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 2003;126:590-597.
    • (2003) Brain , vol.126 , pp. 590-597
    • Jordanova, A.1    De Jonghe, P.2    Boerkoel, C.F.3
  • 5
    • 0036900365 scopus 로고    scopus 로고
    • Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: Analysis of Charcot-Marie-Tooth disease patients and normal individuals
    • Yoshihara T, Yamamoto M, Hattori N, et al. Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals. J Peripher Nerv Syst 2002;7:221-224.
    • (2002) J Peripher Nerv Syst , vol.7 , pp. 221-224
    • Yoshihara, T.1    Yamamoto, M.2    Hattori, N.3
  • 6
    • 0037161236 scopus 로고    scopus 로고
    • Intermediate filaments. A common thread in neuromuscular disorders
    • Herrmann DN, Griffin JW. Intermediate filaments. A common thread in neuromuscular disorders. Neurology 2002;58:1141-1143.
    • (2002) Neurology , vol.58 , pp. 1141-1143
    • Herrmann, D.N.1    Griffin, J.W.2
  • 7
    • 0035838443 scopus 로고    scopus 로고
    • A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B
    • Fabrizi GM, Ferrarini M, Cavallaro T, Jarre L, Polo A, Rizzuto N. A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B. Neurology 2001;57:101-105.
    • (2001) Neurology , vol.57 , pp. 101-105
    • Fabrizi, G.M.1    Ferrarini, M.2    Cavallaro, T.3    Jarre, L.4    Polo, A.5    Rizzuto, N.6
  • 9
    • 0021878488 scopus 로고
    • Hereditary motor and sensory neuropathy type II with neurofilament accumulation: New finding or new disorder?
    • Vogel P, Gabriel M, Goebel HH, Dyck PJ. Hereditary motor and sensory neuropathy type II with neurofilament accumulation: new finding or new disorder? Ann Neurol 1985;17:455-461
    • (1985) Ann Neurol , vol.17 , pp. 455-461
    • Vogel, P.1    Gabriel, M.2    Goebel, H.H.3    Dyck, P.J.4
  • 10
    • 10744225184 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease with giant axons: A clinicopathological entity
    • Lus G, Nelis E, Jordanova A, et al. Charcot-Marie-Tooth disease with giant axons: a clinicopathological entity. Neurology 2003;61:988-990.
    • (2003) Neurology , vol.61 , pp. 988-990
    • Lus, G.1    Nelis, E.2    Jordanova, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.