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Volumn 21, Issue 2, 2011, Pages 129-131

Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene

Author keywords

Amyotrophic Lateral Sclerosis; Charcot Marie Tooth neuropathy; CMT2A; Mitofusin 2; Motor neuron disease

Indexed keywords

MITOFUSIN 2;

EID: 78751575388     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.09.009     Document Type: Article
Times cited : (18)

References (9)
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    • Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
    • Züchner S., Mersiyanova I.V., Muglia M., et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004, 36:449-451.
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    • Züchner, S.1    Mersiyanova, I.V.2    Muglia, M.3
  • 3
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    • MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2
    • Verhoeven K., Claeys K.G., Züchner S., et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain 2006, 129:2093-2102.
    • (2006) Brain , vol.129 , pp. 2093-2102
    • Verhoeven, K.1    Claeys, K.G.2    Züchner, S.3
  • 4
    • 32044474896 scopus 로고    scopus 로고
    • Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2
    • Züchner S., De Jonghe P., Jordanova A., et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol 2006, 59:276-281.
    • (2006) Ann Neurol , vol.59 , pp. 276-281
    • Züchner, S.1    De Jonghe, P.2    Jordanova, A.3
  • 5
    • 33747872317 scopus 로고    scopus 로고
    • Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations
    • Chung K.W., Kim S.B., Park K.D., et al. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain 2006, 129:2103-2118.
    • (2006) Brain , vol.129 , pp. 2103-2118
    • Chung, K.W.1    Kim, S.B.2    Park, K.D.3
  • 6
    • 23244443545 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations
    • Zhu D., Kennerson M.L., Walizada G., Züchner S., Vance J.M., Nicholson G.A. Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations. Neurology 2005, 65:496-497.
    • (2005) Neurology , vol.65 , pp. 496-497
    • Zhu, D.1    Kennerson, M.L.2    Walizada, G.3    Züchner, S.4    Vance, J.M.5    Nicholson, G.A.6
  • 7
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    • Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: an important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults
    • Ouvrier R., Grew S. Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: an important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults. Dev Med Child Neurol 2010, 52:328-330.
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    • Ouvrier, R.1    Grew, S.2
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    • Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2
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    • Cho, H.J.1    Sung, D.H.2    Kim, B.J.3    Ki, C.S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.