FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3097612043> ?p ?o ?g. }

• W3097612043 abstract "Friedreich's ataxia is a rare degenerative neuromuscular disorder, caused by a homozygous GAA triplet repeat expansion in the frataxin (FXN) gene, with a broad clinical phenotype characterized by progressive gait and limb ataxia, dysarthria, and loss of lower limb reflexes; cardiac involvement is represented by hypertrophic cardiomyopathy, ventricular arrhythmias, and sudden cardiac deaths. Currently, no definite therapy is available, while many drugs are under investigation; for this reasons, we need markers of short- and long-term treatment efficacy acting on different tissue for trial evaluation. We describe the case of a 21-year-old patient affected by Friedreich's ataxia on wheel-chair, with initial cardiac involvement and electrocardiographic features characterized by thiamine treatment-related negative T wave and QTc variations. We discuss plausible physiopathology and potential ECG role implications as an intermediate marker of treatment response in future clinical trials considering patients affected by Friedreich's ataxia." @default.
• W3097612043 created "2020-11-09" @default.
• W3097612043 creator A5012130898 @default.
• W3097612043 creator A5013762285 @default.
• W3097612043 creator A5036893941 @default.
• W3097612043 creator A5044367878 @default.
• W3097612043 creator A5045025946 @default.
• W3097612043 creator A5070596417 @default.
• W3097612043 creator A5074890350 @default.
• W3097612043 creator A5076189244 @default.
• W3097612043 date "2020-11-05" @default.
• W3097612043 modified "2023-10-18" @default.
• W3097612043 title "Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy" @default.
• W3097612043 cites W1985093325 @default.
• W3097612043 cites W2081513278 @default.
• W3097612043 cites W2118896714 @default.
• W3097612043 cites W2143973329 @default.
• W3097612043 cites W2167074069 @default.
• W3097612043 cites W2209535842 @default.
• W3097612043 cites W2475724084 @default.
• W3097612043 cites W2765363512 @default.
• W3097612043 cites W2807803570 @default.
• W3097612043 cites W2808702772 @default.
• W3097612043 cites W2810104416 @default.
• W3097612043 cites W2914514173 @default.
• W3097612043 cites W2929282680 @default.
• W3097612043 cites W2982337851 @default.
• W3097612043 cites W2990869343 @default.
• W3097612043 cites W3097612043 @default.
• W3097612043 doi "https://doi.org/10.1111/anec.12813" @default.
• W3097612043 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8293611" @default.
• W3097612043 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33151022" @default.
• W3097612043 hasPublicationYear "2020" @default.
• W3097612043 type Work @default.
• W3097612043 sameAs 3097612043 @default.
• W3097612043 citedByCount "1" @default.
• W3097612043 countsByYear W30976120432020 @default.
• W3097612043 crossrefType "journal-article" @default.
• W3097612043 hasAuthorship W3097612043A5012130898 @default.
• W3097612043 hasAuthorship W3097612043A5013762285 @default.
• W3097612043 hasAuthorship W3097612043A5036893941 @default.
• W3097612043 hasAuthorship W3097612043A5044367878 @default.
• W3097612043 hasAuthorship W3097612043A5045025946 @default.
• W3097612043 hasAuthorship W3097612043A5070596417 @default.
• W3097612043 hasAuthorship W3097612043A5074890350 @default.
• W3097612043 hasAuthorship W3097612043A5076189244 @default.
• W3097612043 hasBestOaLocation W30976120431 @default.
• W3097612043 hasConcept C118552586 @default.
• W3097612043 hasConcept C126322002 @default.
• W3097612043 hasConcept C141341695 @default.
• W3097612043 hasConcept C164705383 @default.
• W3097612043 hasConcept C187212893 @default.
• W3097612043 hasConcept C22814914 @default.
• W3097612043 hasConcept C2777639682 @default.
• W3097612043 hasConcept C2778198053 @default.
• W3097612043 hasConcept C2778797674 @default.
• W3097612043 hasConcept C2779314966 @default.
• W3097612043 hasConcept C2779369046 @default.
• W3097612043 hasConcept C2780906641 @default.
• W3097612043 hasConcept C2908670167 @default.
• W3097612043 hasConcept C548259974 @default.
• W3097612043 hasConcept C71924100 @default.
• W3097612043 hasConcept C99508421 @default.
• W3097612043 hasConceptScore W3097612043C118552586 @default.
• W3097612043 hasConceptScore W3097612043C126322002 @default.
• W3097612043 hasConceptScore W3097612043C141341695 @default.
• W3097612043 hasConceptScore W3097612043C164705383 @default.
• W3097612043 hasConceptScore W3097612043C187212893 @default.
• W3097612043 hasConceptScore W3097612043C22814914 @default.
• W3097612043 hasConceptScore W3097612043C2777639682 @default.
• W3097612043 hasConceptScore W3097612043C2778198053 @default.
• W3097612043 hasConceptScore W3097612043C2778797674 @default.
• W3097612043 hasConceptScore W3097612043C2779314966 @default.
• W3097612043 hasConceptScore W3097612043C2779369046 @default.
• W3097612043 hasConceptScore W3097612043C2780906641 @default.
• W3097612043 hasConceptScore W3097612043C2908670167 @default.
• W3097612043 hasConceptScore W3097612043C548259974 @default.
• W3097612043 hasConceptScore W3097612043C71924100 @default.
• W3097612043 hasConceptScore W3097612043C99508421 @default.
• W3097612043 hasFunder F4320321781 @default.
• W3097612043 hasIssue "4" @default.
• W3097612043 hasLocation W30976120431 @default.
• W3097612043 hasLocation W30976120432 @default.
• W3097612043 hasLocation W30976120433 @default.
• W3097612043 hasOpenAccess W3097612043 @default.
• W3097612043 hasPrimaryLocation W30976120431 @default.
• W3097612043 hasRelatedWork W162222714 @default.
• W3097612043 hasRelatedWork W1976781304 @default.
• W3097612043 hasRelatedWork W1977664045 @default.
• W3097612043 hasRelatedWork W1984057035 @default.
• W3097612043 hasRelatedWork W2140764586 @default.
• W3097612043 hasRelatedWork W2592948894 @default.
• W3097612043 hasRelatedWork W3097612043 @default.
• W3097612043 hasRelatedWork W4280501683 @default.
• W3097612043 hasRelatedWork W765830930 @default.
• W3097612043 hasRelatedWork W1866746450 @default.
• W3097612043 hasVolume "26" @default.
• W3097612043 isParatext "false" @default.
• W3097612043 isRetracted "false" @default.
• W3097612043 magId "3097612043" @default.

• next