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Volumn 68, Issue 1, 2007, Pages 56-58

Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; AMANTADINE; GLYCINE; LEVODOPA; LYSINE; MITOCHONDRIAL DNA; TRANSFER RNA;

EID: 33846040667     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000250334.48038.7a     Document Type: Article
Times cited : (62)

References (10)
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  • 2
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    • Parkinsonism, premature menopause, and mitochondrial polymerase γ mutations: Clinical and molecular genetic study
    • Luoma P, Melberg A, Rinne JO, et al. Parkinsonism, premature menopause, and mitochondrial polymerase γ mutations: clinical and molecular genetic study. Lancet 2004;364:875-882.
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    • Luoma, P.1    Melberg, A.2    Rinne, J.O.3
  • 3
    • 3543017697 scopus 로고    scopus 로고
    • A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and parkinsonism
    • Mancuso M, Filosto M, Oh SJ, DiMauro S. A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and parkinsonism. Arch Neurol 2004;61:1777-1779.
    • (2004) Arch Neurol , vol.61 , pp. 1777-1779
    • Mancuso, M.1    Filosto, M.2    Oh, S.J.3    DiMauro, S.4
  • 4
    • 0025368281 scopus 로고
    • Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
    • Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 1990;61:931-937.
    • (1990) Cell , vol.61 , pp. 931-937
    • Shoffner, J.M.1    Lott, M.T.2    Lezza, A.M.3    Seibel, P.4    Ballinger, S.W.5    Wallace, D.C.6
  • 5
    • 0027190874 scopus 로고
    • Clinical features associated with the A to G transition at nucleotide 8344 of mtDNA (MERRF mutation)
    • Silvestri G, Ciafaloni E, Santarelli FM, et al. Clinical features associated with the A to G transition at nucleotide 8344 of mtDNA (MERRF mutation). Neurology 1993;43:1200-1206.
    • (1993) Neurology , vol.43 , pp. 1200-1206
    • Silvestri, G.1    Ciafaloni, E.2    Santarelli, F.M.3
  • 6
    • 0035957304 scopus 로고    scopus 로고
    • Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family
    • Casali C, Bonifati V, Santorelli FM, et al. Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family Neurology 2001;56:802-805.
    • (2001) Neurology , vol.56 , pp. 802-805
    • Casali, C.1    Bonifati, V.2    Santorelli, F.M.3
  • 9
    • 0032899012 scopus 로고    scopus 로고
    • A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome
    • De Coo IFM, Renier WO, Ruitenbeck W, et al. A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome. Ann Neurol 1999;45:130-133.
    • (1999) Ann Neurol , vol.45 , pp. 130-133
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  • 10
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    • High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease
    • Bender A, Krishnan KJ, Morris CM, et al. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet 2006;38:515-517.
    • (2006) Nat Genet , vol.38 , pp. 515-517
    • Bender, A.1    Krishnan, K.J.2    Morris, C.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.