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Volumn 86, Issue 4, 2015, Pages 363-365

Subacute necrotising encephalomyelopathy (Leigh's disease; Leigh syndrome)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; ERYTHROCYTE TRANSKETOLASE; MITOCHONDRIAL DNA; PYRUVATE DECARBOXYLASE; RAPAMYCIN; THIAMINE; TRANSKETOLASE; UNCLASSIFIED DRUG;

EID: 84925669077     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2012-304601     Document Type: Note
Times cited : (10)

References (11)
  • 1
    • 0000376151 scopus 로고
    • Subacute necrotising encephalopathy in an infant
    • Leigh D. Subacute necrotising encephalopathy in an infant. J Neurol Neurosurg Psychiatry 1951;14:216-21.
    • (1951) J Neurol Neurosurg Psychiatry , vol.14 , pp. 216-221
    • Leigh, D.1
  • 2
    • 84881371312 scopus 로고    scopus 로고
    • The clinical maze of mitochondrial neurology
    • DiMauro S, Schon EA, Carelli V, et al. The clinical maze of mitochondrial neurology. Nat Rev Neurol 2013;9:429-44.
    • (2013) Nat Rev Neurol , vol.9 , pp. 429-444
    • DiMauro, S.1    Schon, E.A.2    Carelli, V.3
  • 3
    • 84873679672 scopus 로고    scopus 로고
    • Biotin-responsive basal ganglia disease revisited: Clinical radiologic, and genetic findings
    • Tabarki B, Al-Shafi S, Al-Shahwan S, et al. Biotin-responsive basal ganglia disease revisited: clinical radiologic, and genetic findings. Neurology 2013;80:261-7.
    • (2013) Neurology , vol.80 , pp. 261-267
    • Tabarki, B.1    Al-Shafi, S.2    Al-Shahwan, S.3
  • 4
    • 0028566729 scopus 로고
    • Pathogenic factors underlying the lesions in Leigh's disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequences
    • Cavanagh JB, Harding BN. Pathogenic factors underlying the lesions in Leigh's disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequences. Brain 1994;117:1357-76.
    • (1994) Brain , vol.117 , pp. 1357-1376
    • Cavanagh, J.B.1    Harding, B.N.2
  • 6
    • 0035092240 scopus 로고    scopus 로고
    • The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities
    • Darin N, Oldfors A, Moslemi AR, et al. The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities. Ann Neurol 2001;49:377-83.
    • (2001) Ann Neurol , vol.49 , pp. 377-383
    • Darin, N.1    Oldfors, A.2    Moslemi, A.R.3
  • 7
    • 0019119413 scopus 로고
    • Erythrocyte transketolase activity in suspected cases of Leigh's disease, or subacute necrotising encephalomyelopathy
    • McBurney A, Leigh D, McIlwain H. Erythrocyte transketolase activity in suspected cases of Leigh's disease, or subacute necrotising encephalomyelopathy. Arch Dis Child 1980;55:789-94.
    • (1980) Arch Dis Child , vol.55 , pp. 789-794
    • McBurney, A.1    Leigh, D.2    McIlwain, H.3
  • 9
    • 84903618205 scopus 로고    scopus 로고
    • Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
    • Taylor RW, Pyle A, Griffin H, et al. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA 2014;312:68-77.
    • (2014) JAMA , vol.312 , pp. 68-77
    • Taylor, R.W.1    Pyle, A.2    Griffin, H.3
  • 10
    • 84890850876 scopus 로고    scopus 로고
    • mTOR inhibition alleviates mitochondrial disease in a mouse model of Leigh syndrome
    • Johnson SC, Yanos ME, Kayser EB, et al. mTOR inhibition alleviates mitochondrial disease in a mouse model of Leigh syndrome. Science 2013;342:1524-8.
    • (2013) Science , vol.342 , pp. 1524-1528
    • Johnson, S.C.1    Yanos, M.E.2    Kayser, E.B.3
  • 11
    • 84901332340 scopus 로고    scopus 로고
    • The challenges of mitochondrial replacement
    • Chinnery PF, Craven L, Mitalipov S, et al. The challenges of mitochondrial replacement. PLoS Genet 2014;10:e1004315.
    • (2014) PLoS Genet , vol.10 , pp. e1004315
    • Chinnery, P.F.1    Craven, L.2    Mitalipov, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.