FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2136980757> ?p ?o ?g. }

• W2136980757 endingPage "890" @default.
• W2136980757 startingPage "890" @default.
• W2136980757 abstract "To report a novel mutation that is associated with Leber hereditary optic neuropathy (LHON) within the same family affected by spastic dystonia.Leber hereditary optic neuropathy is a mitochondrial disorder characterized by isolated central visual loss. Of patients with LHON, 95% carry a mutation in 1 of 3 mitochondrial DNA-encoded complex I genes. The complete mitochondrial DNA was screened for mutations in a patient with LHON without 1 of these 3 primary mutations. The heteroplasmy level and biochemical consequence of the mutation were determined.A pathogenic 3697G>A/ND1 mutation was detected and seemed associated with an isolated complex I deficiency. This family has similar clinical characteristics as the previously described families with LHON and dystonia with an ND6 mutation.The 3697G>A/ND1 mitochondrial DNA mutation causes the LHON and spastic dystonia phenotype in the same family. This mutation can also cause MELAS syndrome (which encompasses mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke), and other genetic factors may contribute to the clinical expression." @default.
• W2136980757 created "2016-06-24" @default.
• W2136980757 creator A5010298961 @default.
• W2136980757 creator A5046217753 @default.
• W2136980757 creator A5053503098 @default.
• W2136980757 creator A5063622146 @default.
• W2136980757 creator A5065952882 @default.
• W2136980757 creator A5072135853 @default.
• W2136980757 creator A5081607909 @default.
• W2136980757 creator A5085488468 @default.
• W2136980757 creator A5089568966 @default.
• W2136980757 date "2007-06-01" @default.
• W2136980757 modified "2023-10-11" @default.
• W2136980757 title "A MELAS-Associated ND1 Mutation Causing Leber Hereditary Optic Neuropathy and Spastic Dystonia" @default.
• W2136980757 cites W1551036491 @default.
• W2136980757 cites W1569716332 @default.
• W2136980757 cites W1570067108 @default.
• W2136980757 cites W1966986920 @default.
• W2136980757 cites W1986612644 @default.
• W2136980757 cites W2000875498 @default.
• W2136980757 cites W2006761046 @default.
• W2136980757 cites W2012487537 @default.
• W2136980757 cites W2012636308 @default.
• W2136980757 cites W2036300799 @default.
• W2136980757 cites W2054583917 @default.
• W2136980757 cites W2058094380 @default.
• W2136980757 cites W2077526594 @default.
• W2136980757 cites W2079874805 @default.
• W2136980757 cites W20810200 @default.
• W2136980757 cites W2114265438 @default.
• W2136980757 cites W2124109391 @default.
• W2136980757 cites W2130295377 @default.
• W2136980757 cites W2141315581 @default.
• W2136980757 doi "https://doi.org/10.1001/archneur.64.6.890" @default.
• W2136980757 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17562939" @default.
• W2136980757 hasPublicationYear "2007" @default.
• W2136980757 type Work @default.
• W2136980757 sameAs 2136980757 @default.
• W2136980757 citedByCount "48" @default.
• W2136980757 countsByYear W21369807572012 @default.
• W2136980757 countsByYear W21369807572013 @default.
• W2136980757 countsByYear W21369807572014 @default.
• W2136980757 countsByYear W21369807572015 @default.
• W2136980757 countsByYear W21369807572016 @default.
• W2136980757 countsByYear W21369807572017 @default.
• W2136980757 countsByYear W21369807572019 @default.
• W2136980757 countsByYear W21369807572020 @default.
• W2136980757 countsByYear W21369807572021 @default.
• W2136980757 countsByYear W21369807572022 @default.
• W2136980757 countsByYear W21369807572023 @default.
• W2136980757 crossrefType "journal-article" @default.
• W2136980757 hasAuthorship W2136980757A5010298961 @default.
• W2136980757 hasAuthorship W2136980757A5046217753 @default.
• W2136980757 hasAuthorship W2136980757A5053503098 @default.
• W2136980757 hasAuthorship W2136980757A5063622146 @default.
• W2136980757 hasAuthorship W2136980757A5065952882 @default.
• W2136980757 hasAuthorship W2136980757A5072135853 @default.
• W2136980757 hasAuthorship W2136980757A5081607909 @default.
• W2136980757 hasAuthorship W2136980757A5085488468 @default.
• W2136980757 hasAuthorship W2136980757A5089568966 @default.
• W2136980757 hasBestOaLocation W21369807571 @default.
• W2136980757 hasConcept C104317684 @default.
• W2136980757 hasConcept C118487528 @default.
• W2136980757 hasConcept C118552586 @default.
• W2136980757 hasConcept C126322002 @default.
• W2136980757 hasConcept C169760540 @default.
• W2136980757 hasConcept C181561989 @default.
• W2136980757 hasConcept C24586158 @default.
• W2136980757 hasConcept C2775833069 @default.
• W2136980757 hasConcept C2776195251 @default.
• W2136980757 hasConcept C2777056713 @default.
• W2136980757 hasConcept C2777300911 @default.
• W2136980757 hasConcept C2778233873 @default.
• W2136980757 hasConcept C2778559928 @default.
• W2136980757 hasConcept C2779421357 @default.
• W2136980757 hasConcept C2780317664 @default.
• W2136980757 hasConcept C2780837183 @default.
• W2136980757 hasConcept C501734568 @default.
• W2136980757 hasConcept C54355233 @default.
• W2136980757 hasConcept C71924100 @default.
• W2136980757 hasConcept C86803240 @default.
• W2136980757 hasConceptScore W2136980757C104317684 @default.
• W2136980757 hasConceptScore W2136980757C118487528 @default.
• W2136980757 hasConceptScore W2136980757C118552586 @default.
• W2136980757 hasConceptScore W2136980757C126322002 @default.
• W2136980757 hasConceptScore W2136980757C169760540 @default.
• W2136980757 hasConceptScore W2136980757C181561989 @default.
• W2136980757 hasConceptScore W2136980757C24586158 @default.
• W2136980757 hasConceptScore W2136980757C2775833069 @default.
• W2136980757 hasConceptScore W2136980757C2776195251 @default.
• W2136980757 hasConceptScore W2136980757C2777056713 @default.
• W2136980757 hasConceptScore W2136980757C2777300911 @default.
• W2136980757 hasConceptScore W2136980757C2778233873 @default.
• W2136980757 hasConceptScore W2136980757C2778559928 @default.
• W2136980757 hasConceptScore W2136980757C2779421357 @default.
• W2136980757 hasConceptScore W2136980757C2780317664 @default.
• W2136980757 hasConceptScore W2136980757C2780837183 @default.
• W2136980757 hasConceptScore W2136980757C501734568 @default.

• next