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Volumn 65, Issue 3, 2005, Pages 496-497

Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: Families with and without MFN2 mutations

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; FAMILIAL DISEASE; FAMILY STUDY; GENE; GENE MUTATION; GENETIC LINKAGE; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; KIF1B GENE; MFN2 GENE; NERVE FIBER DEGENERATION; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PYRAMIDAL SIGN; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 23244443545     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000171345.62270.29     Document Type: Note
Times cited : (94)

References (7)
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    • (1993) Peripheral Neuropathy, 3rd. Ed. , pp. 1094-1136
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  • 2
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    • Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic and electrophysiologic findings in various neuronal degenerations. Arch Neurol 1968;18:619-625.
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    • Dyck, P.J.1    Lambert, E.H.2
  • 4
    • 0035369084 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta
    • Zhao C, Takita J, Tanaka Y, et al. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell 2001;105:587-597.
    • (2001) Cell , vol.105 , pp. 587-597
    • Zhao, C.1    Takita, J.2    Tanaka, Y.3
  • 5
    • 2442589922 scopus 로고    scopus 로고
    • Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
    • Zuchner S, Mersiyanova IV, Muglia M, et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004;36:449-451.
    • (2004) Nat Genet , vol.36 , pp. 449-451
    • Zuchner, S.1    Mersiyanova, I.V.2    Muglia, M.3
  • 6
    • 0037465465 scopus 로고    scopus 로고
    • CMT with pyramidal features
    • Vucic S, Kennerson M, Zhu D, et al. CMT with pyramidal features. Neurology 2003;60:696-699.
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    • Vucic, S.1    Kennerson, M.2    Zhu, D.3
  • 7
    • 0038067742 scopus 로고    scopus 로고
    • Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
    • Antonellis A, Ellsworth RE, Sambuughin N, et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 2003;72:1293-1299.
    • (2003) Am J Hum Genet , vol.72 , pp. 1293-1299
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.