FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2024552481> ?p ?o ?g. }

• W2024552481 endingPage "86" @default.
• W2024552481 startingPage "83" @default.
• W2024552481 abstract "Leigh syndrome is a mitochondrial disease with considerable clinical and genetic variation. We present a 16-year-old boy with Leigh-like syndrome and broad developmental retardation, parkinsonism and hypogonadism. Sequencing of the entire mitochondrial DNA from blood revealed the m.4296G>A mutation in the MT-TI gene. The mutation was heteroplasmic with a 95% proportion of the mutant genome, while the proportion was 58% in the blood of the patient's clinically healthy mother. Our results suggest that m.4296G>A is pathogenic in humans, and that the phenotype related to this change includes Leigh-like syndrome in adolescence with parkinsonism and hypogonadism, in addition to the previously reported early infantile Leigh syndrome." @default.
• W2024552481 created "2016-06-24" @default.
• W2024552481 creator A5039512469 @default.
• W2024552481 creator A5052447854 @default.
• W2024552481 creator A5068279800 @default.
• W2024552481 date "2013-03-01" @default.
• W2024552481 modified "2023-09-25" @default.
• W2024552481 title "Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA" @default.
• W2024552481 cites W1964630690 @default.
• W2024552481 cites W1975016254 @default.
• W2024552481 cites W1976223286 @default.
• W2024552481 cites W1986644342 @default.
• W2024552481 cites W1990668821 @default.
• W2024552481 cites W1996980926 @default.
• W2024552481 cites W2003287313 @default.
• W2024552481 cites W2009428257 @default.
• W2024552481 cites W2011288871 @default.
• W2024552481 cites W2014837340 @default.
• W2024552481 cites W2022717936 @default.
• W2024552481 cites W2028852044 @default.
• W2024552481 cites W2030093559 @default.
• W2024552481 cites W2031723973 @default.
• W2024552481 cites W2037093622 @default.
• W2024552481 cites W2040058795 @default.
• W2024552481 cites W2040787496 @default.
• W2024552481 cites W2043821156 @default.
• W2024552481 cites W2055985641 @default.
• W2024552481 cites W2056767629 @default.
• W2024552481 cites W2057262863 @default.
• W2024552481 cites W2062226417 @default.
• W2024552481 cites W2068739566 @default.
• W2024552481 cites W2073844838 @default.
• W2024552481 cites W2081164031 @default.
• W2024552481 cites W2086778160 @default.
• W2024552481 cites W2092550785 @default.
• W2024552481 cites W2095626761 @default.
• W2024552481 cites W2124109391 @default.
• W2024552481 cites W2130588024 @default.
• W2024552481 cites W2139233019 @default.
• W2024552481 cites W2146224921 @default.
• W2024552481 cites W2167284343 @default.
• W2024552481 cites W2325807750 @default.
• W2024552481 cites W4234887284 @default.
• W2024552481 doi "https://doi.org/10.1016/j.mito.2013.01.012" @default.
• W2024552481 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23395828" @default.
• W2024552481 hasPublicationYear "2013" @default.
• W2024552481 type Work @default.
• W2024552481 sameAs 2024552481 @default.
• W2024552481 citedByCount "20" @default.
• W2024552481 countsByYear W20245524812014 @default.
• W2024552481 countsByYear W20245524812015 @default.
• W2024552481 countsByYear W20245524812016 @default.
• W2024552481 countsByYear W20245524812017 @default.
• W2024552481 countsByYear W20245524812018 @default.
• W2024552481 countsByYear W20245524812019 @default.
• W2024552481 countsByYear W20245524812020 @default.
• W2024552481 countsByYear W20245524812021 @default.
• W2024552481 countsByYear W20245524812022 @default.
• W2024552481 countsByYear W20245524812023 @default.
• W2024552481 crossrefType "journal-article" @default.
• W2024552481 hasAuthorship W2024552481A5039512469 @default.
• W2024552481 hasAuthorship W2024552481A5052447854 @default.
• W2024552481 hasAuthorship W2024552481A5068279800 @default.
• W2024552481 hasConcept C104317684 @default.
• W2024552481 hasConcept C126322002 @default.
• W2024552481 hasConcept C181561989 @default.
• W2024552481 hasConcept C24586158 @default.
• W2024552481 hasConcept C2776525014 @default.
• W2024552481 hasConcept C2777614518 @default.
• W2024552481 hasConcept C2778461778 @default.
• W2024552481 hasConcept C2779134260 @default.
• W2024552481 hasConcept C501734568 @default.
• W2024552481 hasConcept C54355233 @default.
• W2024552481 hasConcept C71924100 @default.
• W2024552481 hasConcept C86803240 @default.
• W2024552481 hasConceptScore W2024552481C104317684 @default.
• W2024552481 hasConceptScore W2024552481C126322002 @default.
• W2024552481 hasConceptScore W2024552481C181561989 @default.
• W2024552481 hasConceptScore W2024552481C24586158 @default.
• W2024552481 hasConceptScore W2024552481C2776525014 @default.
• W2024552481 hasConceptScore W2024552481C2777614518 @default.
• W2024552481 hasConceptScore W2024552481C2778461778 @default.
• W2024552481 hasConceptScore W2024552481C2779134260 @default.
• W2024552481 hasConceptScore W2024552481C501734568 @default.
• W2024552481 hasConceptScore W2024552481C54355233 @default.
• W2024552481 hasConceptScore W2024552481C71924100 @default.
• W2024552481 hasConceptScore W2024552481C86803240 @default.
• W2024552481 hasIssue "2" @default.
• W2024552481 hasLocation W20245524811 @default.
• W2024552481 hasLocation W20245524812 @default.
• W2024552481 hasOpenAccess W2024552481 @default.
• W2024552481 hasPrimaryLocation W20245524811 @default.
• W2024552481 hasRelatedWork W1950402295 @default.
• W2024552481 hasRelatedWork W1986444550 @default.
• W2024552481 hasRelatedWork W2024552481 @default.
• W2024552481 hasRelatedWork W2028138797 @default.
• W2024552481 hasRelatedWork W2034429340 @default.
• W2024552481 hasRelatedWork W2070231746 @default.

• next