FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2088320171> ?p ?o ?g. }

• W2088320171 endingPage "53" @default.
• W2088320171 startingPage "41" @default.
• W2088320171 abstract "Abstract Gerstmann–Sträussler–Scheinker syndrome is a rare autosomal dominant disease caused by a mutation in the prion gene, usually manifesting as progressive ataxia with late cognitive decline. A 44-year-old woman with a positive family history developed early personality and behavior changes, followed by paresthesias and ataxia, later associated with memory problems, pyramidal signs, anosognosia and very late myoclonus, spasticity, and severe dysexecutive impairment. Magnetic resonance showed caudate, mesio-frontal, and insular hyper-intensities, electroencephalography revealed generalized triphasic periodic complexes. A pathogenic P102L mutation in the prion gene was detected. Our case differed from classical Gerstmann–Sträussler–Scheinker syndrome by rapid progression, severe dementia, abnormal electroencephalography and magnetic resonance findings, which were highly suggestive of familial Creutzfeldt–Jakob disease. Keywords: Gerstmann–Sträussler–Scheinker syndromePrion gene mutationPrionDementia Acknowledgments This study was supported by grant IGA NS 10335-3/2009 from the Czech Ministry of Health and KH was supported by grant MSM 0021620806 of the Czech Ministry of Education, Youth and Sports. The authors thank Thomas Secrest (Medical and Scientific Editing) for revision of the English version of this article, Radek Včelák, MD, Department of Radiology Mediscan, Kolín, Czech Republic for providing MRI services and Silvie Johanidesová and Nina Matulová for realization and interpretation of neuropsychological testing." @default.
• W2088320171 created "2016-06-24" @default.
• W2088320171 creator A5009344355 @default.
• W2088320171 creator A5009674037 @default.
• W2088320171 creator A5017571719 @default.
• W2088320171 creator A5023466753 @default.
• W2088320171 creator A5024478639 @default.
• W2088320171 creator A5046150709 @default.
• W2088320171 creator A5052123440 @default.
• W2088320171 creator A5060921323 @default.
• W2088320171 date "2013-02-01" @default.
• W2088320171 modified "2023-09-26" @default.
• W2088320171 title "Gerstmann–Sträussler–Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt–Jakob disease: a case report and review of the literature" @default.
• W2088320171 cites W1505426793 @default.
• W2088320171 cites W1972615531 @default.
• W2088320171 cites W1977006687 @default.
• W2088320171 cites W1978244875 @default.
• W2088320171 cites W1980837636 @default.
• W2088320171 cites W1982146815 @default.
• W2088320171 cites W1983885070 @default.
• W2088320171 cites W2012042876 @default.
• W2088320171 cites W2021204133 @default.
• W2088320171 cites W2022049250 @default.
• W2088320171 cites W2022770149 @default.
• W2088320171 cites W2025556002 @default.
• W2088320171 cites W2034051681 @default.
• W2088320171 cites W2038096175 @default.
• W2088320171 cites W2041371436 @default.
• W2088320171 cites W2042979992 @default.
• W2088320171 cites W2056397569 @default.
• W2088320171 cites W2072296425 @default.
• W2088320171 cites W2089000866 @default.
• W2088320171 cites W2093375588 @default.
• W2088320171 cites W2095401323 @default.
• W2088320171 cites W2098364572 @default.
• W2088320171 cites W2107789567 @default.
• W2088320171 cites W2118148739 @default.
• W2088320171 cites W2120289706 @default.
• W2088320171 cites W2128048423 @default.
• W2088320171 cites W2133054322 @default.
• W2088320171 cites W2137089177 @default.
• W2088320171 cites W2165334692 @default.
• W2088320171 cites W2405220646 @default.
• W2088320171 cites W4254037328 @default.
• W2088320171 doi "https://doi.org/10.1080/13554794.2011.654215" @default.
• W2088320171 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22494260" @default.
• W2088320171 hasPublicationYear "2013" @default.
• W2088320171 type Work @default.
• W2088320171 sameAs 2088320171 @default.
• W2088320171 citedByCount "8" @default.
• W2088320171 countsByYear W20883201712013 @default.
• W2088320171 countsByYear W20883201712015 @default.
• W2088320171 countsByYear W20883201712019 @default.
• W2088320171 countsByYear W20883201712020 @default.
• W2088320171 countsByYear W20883201712021 @default.
• W2088320171 countsByYear W20883201712023 @default.
• W2088320171 crossrefType "journal-article" @default.
• W2088320171 hasAuthorship W2088320171A5009344355 @default.
• W2088320171 hasAuthorship W2088320171A5009674037 @default.
• W2088320171 hasAuthorship W2088320171A5017571719 @default.
• W2088320171 hasAuthorship W2088320171A5023466753 @default.
• W2088320171 hasAuthorship W2088320171A5024478639 @default.
• W2088320171 hasAuthorship W2088320171A5046150709 @default.
• W2088320171 hasAuthorship W2088320171A5052123440 @default.
• W2088320171 hasAuthorship W2088320171A5060921323 @default.
• W2088320171 hasConcept C118552586 @default.
• W2088320171 hasConcept C142724271 @default.
• W2088320171 hasConcept C15744967 @default.
• W2088320171 hasConcept C187212893 @default.
• W2088320171 hasConcept C2776538686 @default.
• W2088320171 hasConcept C2780906641 @default.
• W2088320171 hasConcept C71924100 @default.
• W2088320171 hasConceptScore W2088320171C118552586 @default.
• W2088320171 hasConceptScore W2088320171C142724271 @default.
• W2088320171 hasConceptScore W2088320171C15744967 @default.
• W2088320171 hasConceptScore W2088320171C187212893 @default.
• W2088320171 hasConceptScore W2088320171C2776538686 @default.
• W2088320171 hasConceptScore W2088320171C2780906641 @default.
• W2088320171 hasConceptScore W2088320171C71924100 @default.
• W2088320171 hasIssue "1" @default.
• W2088320171 hasLocation W20883201711 @default.
• W2088320171 hasLocation W20883201712 @default.
• W2088320171 hasOpenAccess W2088320171 @default.
• W2088320171 hasPrimaryLocation W20883201711 @default.
• W2088320171 hasRelatedWork W169751520 @default.
• W2088320171 hasRelatedWork W1981596169 @default.
• W2088320171 hasRelatedWork W2464867892 @default.
• W2088320171 hasRelatedWork W2585502126 @default.
• W2088320171 hasRelatedWork W2748952813 @default.
• W2088320171 hasRelatedWork W2771675796 @default.
• W2088320171 hasRelatedWork W2899084033 @default.
• W2088320171 hasRelatedWork W4311616359 @default.
• W2088320171 hasRelatedWork W4367296185 @default.
• W2088320171 hasRelatedWork W2565376583 @default.
• W2088320171 hasVolume "19" @default.
• W2088320171 isParatext "false" @default.
• W2088320171 isRetracted "false" @default.
• W2088320171 magId "2088320171" @default.

• next