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Volumn 61, Issue 7, 2003, Pages 988-990

Charcot-Marie-Tooth disease with giant axons: A clinicopathological and genetic entity

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CMT2 GENE; CX32 GENE; FEMALE; GAN GENE; GENE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GIANT AXON; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MPZ GENE; NEFL GENE; NEFM GENE; NERVE BIOPSY; NERVE CONDUCTION; PRIORITY JOURNAL; SURAL NERVE;

EID: 10744225184     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.61.7.988     Document Type: Article
Times cited : (27)

References (8)
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  • 2
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    • A new variant of Charcot-Marie-Tooth disease type 2 (CMT2E) 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 (CMT2E) is probably the result of a mutation in the neurofilament light gene. Am J Hum Genet 2000;67:37-46.
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    • Mersiyanova, I.V.1    Perepelov, A.V.2    Polyakov, A.V.3
  • 3
    • 0029894937 scopus 로고    scopus 로고
    • Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13
    • Timmerman V, De Jonghe P, Spoelders P, et al. Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13. Neurology 1996;46:1311-1318.
    • (1996) Neurology , vol.46 , pp. 1311-1318
    • Timmerman, V.1    De Jonghe, P.2    Spoelders, P.3
  • 4
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    • The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype
    • De Jonghe P, Timmerman V, Ceuterick C, et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 1999;122:281-290.
    • (1999) Brain , vol.122 , pp. 281-290
    • De Jonghe, P.1    Timmerman, V.2    Ceuterick, C.3
  • 5
    • 0033763056 scopus 로고    scopus 로고
    • The gene mutated in giant axonal neuropathy encodes for gigaxonin, a novel member of the cytoskeletal BTB/Kelch repeat family
    • Bomont P, Cavalier L, Blondeau F, et al. The gene mutated in giant axonal neuropathy encodes for gigaxonin, a novel member of the cytoskeletal BTB/Kelch repeat family. Nat Genet 2000;26:370-374.
    • (2000) Nat Genet , vol.26 , pp. 370-374
    • Bomont, P.1    Cavalier, L.2    Blondeau, F.3
  • 6
    • 0021878488 scopus 로고
    • Hereditary motor sensory neuropathy type II with neurofilament accumulation: New finding or new disorder?
    • Vogel P, Gabriel M, Goebel HH, Dyck PJ. Hereditary motor 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
  • 7
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    • Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques
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  • 8
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    • Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy
    • Zemmouri R, Azzedine H, Assami S, et al. Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy. Neuromuscul Disord 2000;10:592-598.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.