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Volumn 137, Issue 11, 2014, Pages 2872-2873

Leigh syndrome: The genetic heterogeneity story continues

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; CARNITINE; COCARBOXYLASE; ENOYL COENZYME A HYDRATASE; RAPAMYCIN; THIAMINE; UBIDECARENONE; UBIQUINONE; VALINE;

EID: 84919393894     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu264     Document Type: Note
Times cited : (6)

References (9)
  • 2
    • 52049087584 scopus 로고    scopus 로고
    • Leigh and leigh-like syndrome in children and adults
    • Finsterer J. Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol 2008; 39: 223-35.
    • (2008) Pediatr Neurol , vol.39 , pp. 223-235
    • Finsterer, J.1
  • 3
    • 84906705372 scopus 로고    scopus 로고
    • Reply: Infantile leigh-like syndrome caused by SLC19A3 mutations is a treatable disease
    • Gerards M, de Coo R, Smeets H. Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease. Brain 2014; 137: e296.
    • (2014) Brain , vol.137 , pp. e296
    • Gerards, M.1    De Coo, R.2    Smeets, H.3
  • 4
    • 84874828464 scopus 로고    scopus 로고
    • Exome sequencing reveals a novel moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal leigh syndrome
    • Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, et al. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. Brain 2013; 136: 882-90.
    • (2013) Brain , vol.136 , pp. 882-890
    • Gerards, M.1    Kamps, R.2    Van Oevelen, J.3    Boesten, I.4    Jongen, E.5    De Koning, B.6
  • 5
    • 84890850876 scopus 로고    scopus 로고
    • mTOR inhibition alleviates mitochondrial disease in a mouse model of leigh syndrome
    • Johnson SC, Yanos ME, Kayser EB, Quintana A, Sangesland M, Castanza A, 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    Quintana, A.4    Sangesland, M.5    Castanza, A.6
  • 6
    • 0000376151 scopus 로고
    • Subacute necrotizing encephalomyelopathy in an infant
    • Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 1951; 14: 216-21.
    • (1951) J Neurol Neurosurg Psychiatry , vol.14 , pp. 216-221
    • Leigh, D.1
  • 7
    • 84922026286 scopus 로고    scopus 로고
    • ECHS1 mutations in leigh disease: A new inborn error of metabolism affecting valine metabolism
    • Peters H, Buck N, Wanders R, Ruiter J, Waterham H, Koster J, et al. ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. Brain 2014; 137: 2903-8.
    • (2014) Brain , vol.137 , pp. 2903-2908
    • Peters, H.1    Buck, N.2    Wanders, R.3    Ruiter, J.4    Waterham, H.5    Koster, J.6
  • 8
    • 0035039888 scopus 로고    scopus 로고
    • Mutations in the SURF1 gene associated with leigh syndrome and cytochrome C oxidase deficiency
    • Pequignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, et al. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. Hum Mutat 2001; 17: 374-81.
    • (2001) Hum Mutat , vol.17 , pp. 374-381
    • Pequignot, M.O.1    Dey, R.2    Zeviani, M.3    Tiranti, V.4    Godinot, C.5    Poyau, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.