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Volumn 47, Issue 5, 1996, Pages 1320-1323

Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

EID: 0029854881     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.47.5.1320     Document Type: Article
Times cited : (47)

References (15)
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  • 4
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    • Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome
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    • Subacute necrotizing encephalomyelopathy in an infant
    • Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 1951;14:216-221.
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  • 7
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    • Di Mauro S, Servidei S, Zeviani M, et al. Cytochrome c oxidase in Leigh syndrome. Ann Neurol 1987;22:498-506.
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    • Di Mauro, S.1    Servidei, S.2    Zeviani, M.3
  • 8
    • 0029919608 scopus 로고    scopus 로고
    • Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome
    • Vazquez-Memije ME, Shanske S, Santorelli FM, et al. Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome. J Inherit Metab Dis 1996; 19:43-50.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 43-50
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  • 9
    • 0023813744 scopus 로고
    • Deletions of mitochondrial DNA in Kearns-Sayre syndrome
    • Zeviani M, Moraes CT, DiMauro S, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988; 38:1339-1346.
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    • Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA
    • Mita S, Rizzuto R, Moraes CT, et al. Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res 1990;18:561-567.
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    • Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: Duplications may be a transient intermediate form
    • Poulton J, Deadman ME, Bindoff L, Morten K, Land J, Brown G. Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form. Hum Mol Genet 1993;2:23-30.
    • (1993) Hum Mol Genet , vol.2 , pp. 23-30
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  • 14
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    • Berl
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.