FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2061034721> ?p ?o ?g. }

• W2061034721 endingPage "e231" @default.
• W2061034721 startingPage "e231" @default.
• W2061034721 abstract "ARTICLESir, Last year we reported our experience on idebenone therapy in patients with Leber’s herediatary optic neuropathy (Carelli et al. , 2011), presenting results similar with those obtained by the Rescue of Hereditary Optic Disease Outpatient Study (Klopstock et al. , 2011). We now report, for the first time, on the administration of idebenone in seven consecutive patients with dominant optic atrophy carrying OPA1 mutations in an open-label trial.Dominant optic atrophy is one of the most frequent hereditary optic neuropathies, characterized by degeneration of retinal ganglion cells leading to loss of central vision, and is currently considered untreatable (Carelli et al. , 2004; Yu-Wai-Man et al. , 2011). The majority of patients with dominant optic atrophy carry heterozygous mutations in the OPA1 gene (Alexander et al. , 2000; Delettre et al. , 2000), which encodes for a mitochondrial dynamin-like GTPase mainly involved in fusion of the mitochondrial inner membrane, control of apoptosis and maintenance of mitochondrial DNA and oxidative phosphorylation (Landes et al. , 2010).Clinical expression of dominant optic atrophy is mostly limited to optic neuropathy with variable severity (Carelli et al. , 2004; Yu-Wai-Man et al. , 2011), ranging from severe congenital optic atrophy to mild cases (Barboni et al. , 2010). Visual loss affects central vision with colour perception defects and temporal optic disc atrophy because of early involvement of the papillomacular bundle. The natural history of dominant optic atrophy is a relentless and slowly progressive visual loss, which may stabilize usually without spontaneous recovery of vision (Kjer, 1959; Votruba et al. , 1998; Carelli et al. , 2004; Yu-Wai-Man et al. , 2011). A subgroup of patients presents a multi-system disease, defined as dominant optic atrophy ‘plus’, involving the central and peripheral nervous system and skeletal muscle …" @default.
• W2061034721 created "2016-06-24" @default.
• W2061034721 creator A5011598142 @default.
• W2061034721 creator A5017458885 @default.
• W2061034721 creator A5024167172 @default.
• W2061034721 creator A5033366064 @default.
• W2061034721 creator A5042048028 @default.
• W2061034721 creator A5048398288 @default.
• W2061034721 creator A5048857899 @default.
• W2061034721 creator A5056579297 @default.
• W2061034721 creator A5058473390 @default.
• W2061034721 creator A5068622580 @default.
• W2061034721 creator A5070590329 @default.
• W2061034721 creator A5070622522 @default.
• W2061034721 creator A5075326896 @default.
• W2061034721 creator A5079257383 @default.
• W2061034721 date "2013-02-01" @default.
• W2061034721 modified "2023-10-02" @default.
• W2061034721 title "Idebenone treatment in patients with OPA1-mutant dominant optic atrophy" @default.
• W2061034721 cites W1967445833 @default.
• W2061034721 cites W1993854106 @default.
• W2061034721 cites W1996529622 @default.
• W2061034721 cites W2003797258 @default.
• W2061034721 cites W2041161641 @default.
• W2061034721 cites W2046909156 @default.
• W2061034721 cites W2054239639 @default.
• W2061034721 cites W2058837644 @default.
• W2061034721 cites W2094113524 @default.
• W2061034721 cites W2095295143 @default.
• W2061034721 cites W2098124212 @default.
• W2061034721 cites W2109645784 @default.
• W2061034721 cites W2112785879 @default.
• W2061034721 cites W2115502031 @default.
• W2061034721 cites W2124154990 @default.
• W2061034721 cites W2138558536 @default.
• W2061034721 cites W2138704587 @default.
• W2061034721 cites W2139425600 @default.
• W2061034721 cites W2169456218 @default.
• W2061034721 doi "https://doi.org/10.1093/brain/aws280" @default.
• W2061034721 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23388408" @default.
• W2061034721 hasPublicationYear "2013" @default.
• W2061034721 type Work @default.
• W2061034721 sameAs 2061034721 @default.
• W2061034721 citedByCount "61" @default.
• W2061034721 countsByYear W20610347212013 @default.
• W2061034721 countsByYear W20610347212014 @default.
• W2061034721 countsByYear W20610347212015 @default.
• W2061034721 countsByYear W20610347212016 @default.
• W2061034721 countsByYear W20610347212017 @default.
• W2061034721 countsByYear W20610347212018 @default.
• W2061034721 countsByYear W20610347212019 @default.
• W2061034721 countsByYear W20610347212020 @default.
• W2061034721 countsByYear W20610347212021 @default.
• W2061034721 countsByYear W20610347212022 @default.
• W2061034721 countsByYear W20610347212023 @default.
• W2061034721 crossrefType "journal-article" @default.
• W2061034721 hasAuthorship W2061034721A5011598142 @default.
• W2061034721 hasAuthorship W2061034721A5017458885 @default.
• W2061034721 hasAuthorship W2061034721A5024167172 @default.
• W2061034721 hasAuthorship W2061034721A5033366064 @default.
• W2061034721 hasAuthorship W2061034721A5042048028 @default.
• W2061034721 hasAuthorship W2061034721A5048398288 @default.
• W2061034721 hasAuthorship W2061034721A5048857899 @default.
• W2061034721 hasAuthorship W2061034721A5056579297 @default.
• W2061034721 hasAuthorship W2061034721A5058473390 @default.
• W2061034721 hasAuthorship W2061034721A5068622580 @default.
• W2061034721 hasAuthorship W2061034721A5070590329 @default.
• W2061034721 hasAuthorship W2061034721A5070622522 @default.
• W2061034721 hasAuthorship W2061034721A5075326896 @default.
• W2061034721 hasAuthorship W2061034721A5079257383 @default.
• W2061034721 hasBestOaLocation W20610347211 @default.
• W2061034721 hasConcept C104317684 @default.
• W2061034721 hasConcept C126322002 @default.
• W2061034721 hasConcept C143065580 @default.
• W2061034721 hasConcept C169760540 @default.
• W2061034721 hasConcept C2777403772 @default.
• W2061034721 hasConcept C2781172350 @default.
• W2061034721 hasConcept C54355233 @default.
• W2061034721 hasConcept C71924100 @default.
• W2061034721 hasConcept C86803240 @default.
• W2061034721 hasConceptScore W2061034721C104317684 @default.
• W2061034721 hasConceptScore W2061034721C126322002 @default.
• W2061034721 hasConceptScore W2061034721C143065580 @default.
• W2061034721 hasConceptScore W2061034721C169760540 @default.
• W2061034721 hasConceptScore W2061034721C2777403772 @default.
• W2061034721 hasConceptScore W2061034721C2781172350 @default.
• W2061034721 hasConceptScore W2061034721C54355233 @default.
• W2061034721 hasConceptScore W2061034721C71924100 @default.
• W2061034721 hasConceptScore W2061034721C86803240 @default.
• W2061034721 hasIssue "2" @default.
• W2061034721 hasLocation W20610347211 @default.
• W2061034721 hasLocation W20610347212 @default.
• W2061034721 hasOpenAccess W2061034721 @default.
• W2061034721 hasPrimaryLocation W20610347211 @default.
• W2061034721 hasRelatedWork W1029886084 @default.
• W2061034721 hasRelatedWork W1968024451 @default.
• W2061034721 hasRelatedWork W2094629462 @default.
• W2061034721 hasRelatedWork W2142165109 @default.

• next