FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2077446001> ?p ?o ?g. }

• W2077446001 endingPage "147" @default.
• W2077446001 startingPage "136" @default.
• W2077446001 abstract "Isolated complex I deficiency, the most frequent OXPHOS disorder in infants and children, is genetically heterogeneous. Mutations have been found in seven mitochondrial DNA (mtDNA) and eight nuclear DNA encoded subunits, respectively, but in most of the cases the genetic basis of the biochemical defect is unknown. We analyzed the entire mtDNA and 11 nuclear encoded complex I subunits in 23 isolated complex I-deficient children, classified into five clinical groups: Leigh syndrome, progressive leukoencephalopathy, neonatal cardiomyopathy, severe infantile lactic acidosis, and a miscellaneous group of unspecified encephalomyopathies. A genetic definition was reached in eight patients (35%). Mutations in mtDNA were found in six out of eight children with Leigh syndrome, indicating a prevalent association between this phenotype and abnormalities in ND genes. In two patients with leukoencephalopathy, homozygous mutations were detected in two different nuclear-encoded complex I genes, including a novel transition in NDUFS1 subunit. In addition to these, a child affected by mitochondrial encephalomyopathy had heterozygous mutations in NDUFA8 and NDUFS2 genes, while another child with neonatal cardiomyopathy had a complex rearrangement in a single NDUFS7 allele. The latter cases suggest the possibility of unconventional patterns of inheritance in complex I defects." @default.
• W2077446001 created "2016-06-24" @default.
• W2077446001 creator A5000489546 @default.
• W2077446001 creator A5020213126 @default.
• W2077446001 creator A5030595673 @default.
• W2077446001 creator A5037070650 @default.
• W2077446001 creator A5039295512 @default.
• W2077446001 creator A5043772057 @default.
• W2077446001 creator A5048857899 @default.
• W2077446001 creator A5053479779 @default.
• W2077446001 creator A5071606039 @default.
• W2077446001 creator A5075045812 @default.
• W2077446001 creator A5077861833 @default.
• W2077446001 creator A5088369657 @default.
• W2077446001 date "2004-12-01" @default.
• W2077446001 modified "2023-10-16" @default.
• W2077446001 title "Clinical and molecular findings in children with complex I deficiency" @default.
• W2077446001 cites W1530131126 @default.
• W2077446001 cites W1775749144 @default.
• W2077446001 cites W1964937477 @default.
• W2077446001 cites W1967750933 @default.
• W2077446001 cites W1972154486 @default.
• W2077446001 cites W1982285812 @default.
• W2077446001 cites W1995746334 @default.
• W2077446001 cites W1999057712 @default.
• W2077446001 cites W2000789495 @default.
• W2077446001 cites W2001083394 @default.
• W2077446001 cites W2001338354 @default.
• W2077446001 cites W2003218116 @default.
• W2077446001 cites W2017347785 @default.
• W2077446001 cites W2026510799 @default.
• W2077446001 cites W2034429340 @default.
• W2077446001 cites W2036074567 @default.
• W2077446001 cites W2039162492 @default.
• W2077446001 cites W2061806518 @default.
• W2077446001 cites W2061948381 @default.
• W2077446001 cites W2066459419 @default.
• W2077446001 cites W2072132091 @default.
• W2077446001 cites W2078799684 @default.
• W2077446001 cites W2081792397 @default.
• W2077446001 cites W2087917074 @default.
• W2077446001 cites W2089873655 @default.
• W2077446001 cites W2092311199 @default.
• W2077446001 cites W2094213440 @default.
• W2077446001 cites W2095626761 @default.
• W2077446001 cites W2101216385 @default.
• W2077446001 cites W2101649826 @default.
• W2077446001 cites W2108256411 @default.
• W2077446001 cites W2121147116 @default.
• W2077446001 cites W2128183127 @default.
• W2077446001 cites W2143785821 @default.
• W2077446001 cites W2147409552 @default.
• W2077446001 cites W2160247510 @default.
• W2077446001 cites W2170679741 @default.
• W2077446001 cites W2315288240 @default.
• W2077446001 cites W954944586 @default.
• W2077446001 cites W962061814 @default.
• W2077446001 doi "https://doi.org/10.1016/j.bbabio.2004.09.006" @default.
• W2077446001 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15576045" @default.
• W2077446001 hasPublicationYear "2004" @default.
• W2077446001 type Work @default.
• W2077446001 sameAs 2077446001 @default.
• W2077446001 citedByCount "229" @default.
• W2077446001 countsByYear W20774460012012 @default.
• W2077446001 countsByYear W20774460012013 @default.
• W2077446001 countsByYear W20774460012014 @default.
• W2077446001 countsByYear W20774460012015 @default.
• W2077446001 countsByYear W20774460012016 @default.
• W2077446001 countsByYear W20774460012017 @default.
• W2077446001 countsByYear W20774460012018 @default.
• W2077446001 countsByYear W20774460012019 @default.
• W2077446001 countsByYear W20774460012020 @default.
• W2077446001 countsByYear W20774460012021 @default.
• W2077446001 countsByYear W20774460012022 @default.
• W2077446001 countsByYear W20774460012023 @default.
• W2077446001 crossrefType "journal-article" @default.
• W2077446001 hasAuthorship W2077446001A5000489546 @default.
• W2077446001 hasAuthorship W2077446001A5020213126 @default.
• W2077446001 hasAuthorship W2077446001A5030595673 @default.
• W2077446001 hasAuthorship W2077446001A5037070650 @default.
• W2077446001 hasAuthorship W2077446001A5039295512 @default.
• W2077446001 hasAuthorship W2077446001A5043772057 @default.
• W2077446001 hasAuthorship W2077446001A5048857899 @default.
• W2077446001 hasAuthorship W2077446001A5053479779 @default.
• W2077446001 hasAuthorship W2077446001A5071606039 @default.
• W2077446001 hasAuthorship W2077446001A5075045812 @default.
• W2077446001 hasAuthorship W2077446001A5077861833 @default.
• W2077446001 hasAuthorship W2077446001A5088369657 @default.
• W2077446001 hasConcept C104317684 @default.
• W2077446001 hasConcept C115960442 @default.
• W2077446001 hasConcept C126322002 @default.
• W2077446001 hasConcept C127716648 @default.
• W2077446001 hasConcept C134018914 @default.
• W2077446001 hasConcept C20750100 @default.
• W2077446001 hasConcept C24586158 @default.
• W2077446001 hasConcept C2775833069 @default.
• W2077446001 hasConcept C2778461778 @default.
• W2077446001 hasConcept C2778583010 @default.

• next