Matches in SemOpenAlex for { <https://semopenalex.org/work/W4286801062> ?p ?o ?g. }
Showing items 1 to 70 of
70
with 100 items per page.
- W4286801062 endingPage "619" @default.
- W4286801062 startingPage "616" @default.
- W4286801062 abstract "
 Fatal familial insomia (FFI) is a dominant autosomal genetic prion disease characterised by progressive sleep impairment, autonomic nervous system disorders and motor symptoms associated with significant loss of nerve cells in the medial thalamic nuclei.
 
 
 Making a diagnosis of FFI requires the presence of a certain or probable recognised first-degree relative of the patient, together with neuropsychiatric disorders present. In turn, the detection of the PrP mutation allows the diagnosis to be definitively established. In addition, three other tests - polysomnography, brain imaging and cerebrospinal fluid examination - can be helpful. 
 
 
 Fatal familial insomnia is not a fully understood disease. Diagnosis is based on the presence of symptoms of the disease. An important step in diagnosis will be the development of non-invasive diagnostic tests that are reliable in the early and presymptomatic stages of the disease. Polysomnography, imaging studies (PET, SPECT) and cerebrospinal fluid examination should be improved and widely accepted.
" @default.
- W4286801062 created "2022-07-24" @default.
- W4286801062 creator A5031111854 @default.
- W4286801062 creator A5032350282 @default.
- W4286801062 creator A5056133640 @default.
- W4286801062 creator A5059431765 @default.
- W4286801062 creator A5067751619 @default.
- W4286801062 date "2022-07-24" @default.
- W4286801062 modified "2023-09-30" @default.
- W4286801062 title "Non-invasive diagnostic methods for fatal familial insomnia" @default.
- W4286801062 doi "https://doi.org/10.12775/jehs.2022.12.07.061" @default.
- W4286801062 hasPublicationYear "2022" @default.
- W4286801062 type Work @default.
- W4286801062 citedByCount "0" @default.
- W4286801062 crossrefType "journal-article" @default.
- W4286801062 hasAuthorship W4286801062A5031111854 @default.
- W4286801062 hasAuthorship W4286801062A5032350282 @default.
- W4286801062 hasAuthorship W4286801062A5056133640 @default.
- W4286801062 hasAuthorship W4286801062A5059431765 @default.
- W4286801062 hasAuthorship W4286801062A5067751619 @default.
- W4286801062 hasBestOaLocation W42868010621 @default.
- W4286801062 hasConcept C118552586 @default.
- W4286801062 hasConcept C126838900 @default.
- W4286801062 hasConcept C141071460 @default.
- W4286801062 hasConcept C142724271 @default.
- W4286801062 hasConcept C187212893 @default.
- W4286801062 hasConcept C2778205975 @default.
- W4286801062 hasConcept C2779134260 @default.
- W4286801062 hasConcept C2779455247 @default.
- W4286801062 hasConcept C2779651940 @default.
- W4286801062 hasConcept C2780168130 @default.
- W4286801062 hasConcept C3019804061 @default.
- W4286801062 hasConcept C522805319 @default.
- W4286801062 hasConcept C527108885 @default.
- W4286801062 hasConcept C71924100 @default.
- W4286801062 hasConceptScore W4286801062C118552586 @default.
- W4286801062 hasConceptScore W4286801062C126838900 @default.
- W4286801062 hasConceptScore W4286801062C141071460 @default.
- W4286801062 hasConceptScore W4286801062C142724271 @default.
- W4286801062 hasConceptScore W4286801062C187212893 @default.
- W4286801062 hasConceptScore W4286801062C2778205975 @default.
- W4286801062 hasConceptScore W4286801062C2779134260 @default.
- W4286801062 hasConceptScore W4286801062C2779455247 @default.
- W4286801062 hasConceptScore W4286801062C2779651940 @default.
- W4286801062 hasConceptScore W4286801062C2780168130 @default.
- W4286801062 hasConceptScore W4286801062C3019804061 @default.
- W4286801062 hasConceptScore W4286801062C522805319 @default.
- W4286801062 hasConceptScore W4286801062C527108885 @default.
- W4286801062 hasConceptScore W4286801062C71924100 @default.
- W4286801062 hasIssue "7" @default.
- W4286801062 hasLocation W42868010621 @default.
- W4286801062 hasLocation W42868010622 @default.
- W4286801062 hasOpenAccess W4286801062 @default.
- W4286801062 hasPrimaryLocation W42868010621 @default.
- W4286801062 hasRelatedWork W1978072864 @default.
- W4286801062 hasRelatedWork W1997982311 @default.
- W4286801062 hasRelatedWork W2108342938 @default.
- W4286801062 hasRelatedWork W2157668780 @default.
- W4286801062 hasRelatedWork W2349665845 @default.
- W4286801062 hasRelatedWork W2385652705 @default.
- W4286801062 hasRelatedWork W2604347115 @default.
- W4286801062 hasRelatedWork W3031602194 @default.
- W4286801062 hasRelatedWork W3186351539 @default.
- W4286801062 hasRelatedWork W4286801062 @default.
- W4286801062 hasVolume "12" @default.
- W4286801062 isParatext "false" @default.
- W4286801062 isRetracted "false" @default.
- W4286801062 workType "article" @default.