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Seminars in Pediatric Neurology
Volumn 15, Issue 4, 2008, Pages 212-215
Siblings With Leukoencephalopathy
Author keywords

[No Author keywords available]
Indexed keywords

ARTICLE; CASE REPORT; CHILD; CLINICAL EXAMINATION; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HEAD CIRCUMFERENCE; HOMOZYGOSITY; HUMAN; INFANT; LEUKOENCEPHALOPATHY; MALE; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; OXIDATIVE PHOSPHORYLATION; PRESCHOOL CHILD; SIBLING; SPASTICITY;
EID: 57349170204     PISSN: 10719091     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.spen.2008.10.013     Document Type: Article
Times cited : (19)
References (7)
  • 1
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    • Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
    • Schuelke M., Smeitink J., Mariman E., et al. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nat Genet 21 (1999) 260-261
    • (1999) Nat Genet , vol.21 , pp. 260-261
    • Schuelke, M.1    Smeitink, J.2    Mariman, E.3
  • 2
    • 0026484793 scopus 로고
    • Conservation of sequences of subunits of mitochondrial complex I and their relationships with other proteins
    • Fearnley I.M., and Walker J.E. Conservation of sequences of subunits of mitochondrial complex I and their relationships with other proteins. Biochim Biophys Acta 1140 (1992) 105-134
    • (1992) Biochim Biophys Acta , vol.1140 , pp. 105-134
    • Fearnley, I.M.1    Walker, J.E.2
  • 3
    • 0032540107 scopus 로고    scopus 로고
    • Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3′UTR with the 5′UTR of the gamma-interferon inducible protein (IP-30) precursor: Is this a link between mitochondrial myopathy and inflammation?
    • Schuelke M., Loeffen J., Mariman E., et al. Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3′UTR with the 5′UTR of the gamma-interferon inducible protein (IP-30) precursor: Is this a link between mitochondrial myopathy and inflammation?. Biochem Biophys Res Commun 245 (1998) 599-606
    • (1998) Biochem Biophys Res Commun , vol.245 , pp. 599-606
    • Schuelke, M.1    Loeffen, J.2    Mariman, E.3
  • 4
    • 0033967568 scopus 로고    scopus 로고
    • Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects
    • Loeffen J.L., Smeitink J.A., Trijbels J.M., et al. Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects. Hum Mutat 15 (2000) 123-134
    • (2000) Hum Mutat , vol.15 , pp. 123-134
    • Loeffen, J.L.1    Smeitink, J.A.2    Trijbels, J.M.3
  • 5
    • 9644275464 scopus 로고    scopus 로고
    • Clinical and molecular findings in children with complex I deficiency
    • Bugiani M., Invernizzi F., Alberio S., et al. Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta 1659 (2004) 136-147
    • (2004) Biochim Biophys Acta , vol.1659 , pp. 136-147
    • Bugiani, M.1    Invernizzi, F.2    Alberio, S.3
  • 6
    • 33947277486 scopus 로고    scopus 로고
    • Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations
    • Laugel V., This-Bernd V., Cormier-Daire V., et al. Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations. Pediatr Neurol 36 (2007) 54-57
    • (2007) Pediatr Neurol , vol.36 , pp. 54-57
    • Laugel, V.1    This-Bernd, V.2    Cormier-Daire, V.3
  • 7
    • 0034988212 scopus 로고    scopus 로고
    • Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency
    • Bénit P., Chretien D., Kadhom N., et al. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Am J Hum Genet 68 (2001) 1344-1352
    • (2001) Am J Hum Genet , vol.68 , pp. 1344-1352
    • Bénit, P.1    Chretien, D.2    Kadhom, N.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.