FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2949037511> ?p ?o ?g. }

• W2949037511 endingPage "807" @default.
• W2949037511 startingPage "803" @default.
• W2949037511 abstract "An m.10158T>C mutation in MT-ND3, encoding a subunit of respiratory complex I, causes early-onset Leigh syndrome (LS), mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) syndrome, and LS and MELAS overlapping syndrome, presumably dependent on the ratio of heteroplasmy. Herein, we report a 4-year-old girl with heteroplasmic m.10158T>C mutation, showing an evolving age-dependent phenotype from LS to MELAS syndromes. She showed mild developmental delay during infancy, which was associated with magnetic resonance imaging lesions in the brain stem and basal ganglia. At the age of 4 years, she developed rapid neurological deterioration and intractable seizures, which was associated with recurrent multiple cerebral lesions as well as basal ganglia lesions. Her cerebral lesions were located predominantly in white matter and appeared at multiple areas simultaneously, unique characteristics that are distinct from typical MELAS. Two patients with LS-MELAS overlapping syndrome with m.10158T>C have been previously reported, however, this is the first patient with m.10158T>C showing significant age-dependent changes in clinical features and neuro-images, implying an age-dependent role of complex I in the developing brain." @default.
• W2949037511 created "2019-06-14" @default.
• W2949037511 creator A5012558124 @default.
• W2949037511 creator A5019537702 @default.
• W2949037511 creator A5028206707 @default.
• W2949037511 creator A5060223080 @default.
• W2949037511 creator A5065045891 @default.
• W2949037511 creator A5068173878 @default.
• W2949037511 creator A5071162531 @default.
• W2949037511 creator A5072651520 @default.
• W2949037511 creator A5076766482 @default.
• W2949037511 creator A5083957581 @default.
• W2949037511 date "2019-10-01" @default.
• W2949037511 modified "2023-09-23" @default.
• W2949037511 title "Transition from Leigh syndrome to MELAS syndrome in a patient with heteroplasmic MT-ND3 m.10158T>C" @default.
• W2949037511 cites W2034429340 @default.
• W2949037511 cites W2040834711 @default.
• W2949037511 cites W2072132091 @default.
• W2949037511 cites W2103210312 @default.
• W2949037511 cites W2160247510 @default.
• W2949037511 cites W2460305495 @default.
• W2949037511 cites W2531205318 @default.
• W2949037511 cites W2562667045 @default.
• W2949037511 cites W2624687630 @default.
• W2949037511 cites W2756259648 @default.
• W2949037511 doi "https://doi.org/10.1016/j.braindev.2019.05.006" @default.
• W2949037511 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31178082" @default.
• W2949037511 hasPublicationYear "2019" @default.
• W2949037511 type Work @default.
• W2949037511 sameAs 2949037511 @default.
• W2949037511 citedByCount "11" @default.
• W2949037511 countsByYear W29490375112020 @default.
• W2949037511 countsByYear W29490375112021 @default.
• W2949037511 countsByYear W29490375112022 @default.
• W2949037511 crossrefType "journal-article" @default.
• W2949037511 hasAuthorship W2949037511A5012558124 @default.
• W2949037511 hasAuthorship W2949037511A5019537702 @default.
• W2949037511 hasAuthorship W2949037511A5028206707 @default.
• W2949037511 hasAuthorship W2949037511A5060223080 @default.
• W2949037511 hasAuthorship W2949037511A5065045891 @default.
• W2949037511 hasAuthorship W2949037511A5068173878 @default.
• W2949037511 hasAuthorship W2949037511A5071162531 @default.
• W2949037511 hasAuthorship W2949037511A5072651520 @default.
• W2949037511 hasAuthorship W2949037511A5076766482 @default.
• W2949037511 hasAuthorship W2949037511A5083957581 @default.
• W2949037511 hasConcept C104317684 @default.
• W2949037511 hasConcept C126322002 @default.
• W2949037511 hasConcept C126838900 @default.
• W2949037511 hasConcept C142724271 @default.
• W2949037511 hasConcept C143409427 @default.
• W2949037511 hasConcept C164705383 @default.
• W2949037511 hasConcept C181561989 @default.
• W2949037511 hasConcept C24586158 @default.
• W2949037511 hasConcept C2775833069 @default.
• W2949037511 hasConcept C2776287708 @default.
• W2949037511 hasConcept C2778187257 @default.
• W2949037511 hasConcept C2778461778 @default.
• W2949037511 hasConcept C2778596996 @default.
• W2949037511 hasConcept C2779799828 @default.
• W2949037511 hasConcept C501734568 @default.
• W2949037511 hasConcept C529278444 @default.
• W2949037511 hasConcept C54355233 @default.
• W2949037511 hasConcept C71924100 @default.
• W2949037511 hasConcept C86803240 @default.
• W2949037511 hasConceptScore W2949037511C104317684 @default.
• W2949037511 hasConceptScore W2949037511C126322002 @default.
• W2949037511 hasConceptScore W2949037511C126838900 @default.
• W2949037511 hasConceptScore W2949037511C142724271 @default.
• W2949037511 hasConceptScore W2949037511C143409427 @default.
• W2949037511 hasConceptScore W2949037511C164705383 @default.
• W2949037511 hasConceptScore W2949037511C181561989 @default.
• W2949037511 hasConceptScore W2949037511C24586158 @default.
• W2949037511 hasConceptScore W2949037511C2775833069 @default.
• W2949037511 hasConceptScore W2949037511C2776287708 @default.
• W2949037511 hasConceptScore W2949037511C2778187257 @default.
• W2949037511 hasConceptScore W2949037511C2778461778 @default.
• W2949037511 hasConceptScore W2949037511C2778596996 @default.
• W2949037511 hasConceptScore W2949037511C2779799828 @default.
• W2949037511 hasConceptScore W2949037511C501734568 @default.
• W2949037511 hasConceptScore W2949037511C529278444 @default.
• W2949037511 hasConceptScore W2949037511C54355233 @default.
• W2949037511 hasConceptScore W2949037511C71924100 @default.
• W2949037511 hasConceptScore W2949037511C86803240 @default.
• W2949037511 hasIssue "9" @default.
• W2949037511 hasLocation W29490375111 @default.
• W2949037511 hasLocation W29490375112 @default.
• W2949037511 hasOpenAccess W2949037511 @default.
• W2949037511 hasPrimaryLocation W29490375111 @default.
• W2949037511 hasRelatedWork W2003218116 @default.
• W2949037511 hasRelatedWork W2009038239 @default.
• W2949037511 hasRelatedWork W2031524259 @default.
• W2949037511 hasRelatedWork W2035531999 @default.
• W2949037511 hasRelatedWork W2056807771 @default.
• W2949037511 hasRelatedWork W2073086038 @default.
• W2949037511 hasRelatedWork W2076456147 @default.
• W2949037511 hasRelatedWork W2078799684 @default.
• W2949037511 hasRelatedWork W2170679741 @default.
• W2949037511 hasRelatedWork W54501461 @default.

• next