FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2048552941> ?p ?o ?g. }

• W2048552941 endingPage "82" @default.
• W2048552941 startingPage "78" @default.
• W2048552941 abstract "Early onset familial Alzheimer’s disease (EOFAD) has been associated with mutations in three genes, of which presenilin 1 (PSEN1) mutations are the most frequent. Several families with an association of progressive dementia and spastic paraplegia caused by PSEN1 mutations have been described. Here we described a novel PSEN1 mutation that was associated with dementia and spastic paraplegia in a family with 5 affected individuals in three generations. The proband was a 44-year-old woman who presented with 5 years history of progressive difficulties in walking, cognition and visuospatial impairment. Her maternal grandmother, mother and two maternal aunts also had similar neurological presentation. Molecular genetic analysis showed a missense mutation predicted to substitute an arginine residue for a serine residue at position 278 in the PSEN1 polypeptide (Arg278Ser). The novel PSEN1 mutation identified in this patient adds to the diverse list of existing mutations causing EOFAD associated with spastic paraparesis." @default.
• W2048552941 created "2016-06-24" @default.
• W2048552941 creator A5021711150 @default.
• W2048552941 creator A5023901106 @default.
• W2048552941 creator A5024253291 @default.
• W2048552941 creator A5055313284 @default.
• W2048552941 creator A5077384932 @default.
• W2048552941 creator A5089623700 @default.
• W2048552941 date "2007-09-01" @default.
• W2048552941 modified "2023-10-17" @default.
• W2048552941 title "A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer’s disease and spastic paraparesis" @default.
• W2048552941 cites W1645365656 @default.
• W2048552941 cites W1979004999 @default.
• W2048552941 cites W1982166030 @default.
• W2048552941 cites W2017273996 @default.
• W2048552941 cites W2067290707 @default.
• W2048552941 cites W2074745197 @default.
• W2048552941 cites W2081998222 @default.
• W2048552941 cites W2087445172 @default.
• W2048552941 cites W2087744138 @default.
• W2048552941 cites W2092157460 @default.
• W2048552941 cites W2101317618 @default.
• W2048552941 cites W2139930052 @default.
• W2048552941 cites W2147412102 @default.
• W2048552941 cites W2152744106 @default.
• W2048552941 doi "https://doi.org/10.1016/j.jns.2007.04.013" @default.
• W2048552941 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17507029" @default.
• W2048552941 hasPublicationYear "2007" @default.
• W2048552941 type Work @default.
• W2048552941 sameAs 2048552941 @default.
• W2048552941 citedByCount "13" @default.
• W2048552941 countsByYear W20485529412012 @default.
• W2048552941 countsByYear W20485529412014 @default.
• W2048552941 countsByYear W20485529412018 @default.
• W2048552941 countsByYear W20485529412020 @default.
• W2048552941 countsByYear W20485529412021 @default.
• W2048552941 countsByYear W20485529412022 @default.
• W2048552941 crossrefType "journal-article" @default.
• W2048552941 hasAuthorship W2048552941A5021711150 @default.
• W2048552941 hasAuthorship W2048552941A5023901106 @default.
• W2048552941 hasAuthorship W2048552941A5024253291 @default.
• W2048552941 hasAuthorship W2048552941A5055313284 @default.
• W2048552941 hasAuthorship W2048552941A5077384932 @default.
• W2048552941 hasAuthorship W2048552941A5089623700 @default.
• W2048552941 hasConcept C104317684 @default.
• W2048552941 hasConcept C126322002 @default.
• W2048552941 hasConcept C127716648 @default.
• W2048552941 hasConcept C142724271 @default.
• W2048552941 hasConcept C175344181 @default.
• W2048552941 hasConcept C188997412 @default.
• W2048552941 hasConcept C2776485563 @default.
• W2048552941 hasConcept C2779134260 @default.
• W2048552941 hasConcept C2779483572 @default.
• W2048552941 hasConcept C2779710473 @default.
• W2048552941 hasConcept C2780395223 @default.
• W2048552941 hasConcept C2781179581 @default.
• W2048552941 hasConcept C501734568 @default.
• W2048552941 hasConcept C502032728 @default.
• W2048552941 hasConcept C54355233 @default.
• W2048552941 hasConcept C71924100 @default.
• W2048552941 hasConcept C75563809 @default.
• W2048552941 hasConcept C86803240 @default.
• W2048552941 hasConceptScore W2048552941C104317684 @default.
• W2048552941 hasConceptScore W2048552941C126322002 @default.
• W2048552941 hasConceptScore W2048552941C127716648 @default.
• W2048552941 hasConceptScore W2048552941C142724271 @default.
• W2048552941 hasConceptScore W2048552941C175344181 @default.
• W2048552941 hasConceptScore W2048552941C188997412 @default.
• W2048552941 hasConceptScore W2048552941C2776485563 @default.
• W2048552941 hasConceptScore W2048552941C2779134260 @default.
• W2048552941 hasConceptScore W2048552941C2779483572 @default.
• W2048552941 hasConceptScore W2048552941C2779710473 @default.
• W2048552941 hasConceptScore W2048552941C2780395223 @default.
• W2048552941 hasConceptScore W2048552941C2781179581 @default.
• W2048552941 hasConceptScore W2048552941C501734568 @default.
• W2048552941 hasConceptScore W2048552941C502032728 @default.
• W2048552941 hasConceptScore W2048552941C54355233 @default.
• W2048552941 hasConceptScore W2048552941C71924100 @default.
• W2048552941 hasConceptScore W2048552941C75563809 @default.
• W2048552941 hasConceptScore W2048552941C86803240 @default.
• W2048552941 hasIssue "1-2" @default.
• W2048552941 hasLocation W20485529411 @default.
• W2048552941 hasLocation W20485529412 @default.
• W2048552941 hasOpenAccess W2048552941 @default.
• W2048552941 hasPrimaryLocation W20485529411 @default.
• W2048552941 hasRelatedWork W2042329570 @default.
• W2048552941 hasRelatedWork W2075285546 @default.
• W2048552941 hasRelatedWork W2133561989 @default.
• W2048552941 hasRelatedWork W2169313980 @default.
• W2048552941 hasRelatedWork W2883056534 @default.
• W2048552941 hasRelatedWork W2945327937 @default.
• W2048552941 hasRelatedWork W2950273610 @default.
• W2048552941 hasRelatedWork W3005251335 @default.
• W2048552941 hasRelatedWork W4296525788 @default.
• W2048552941 hasRelatedWork W4312195495 @default.
• W2048552941 hasVolume "260" @default.
• W2048552941 isParatext "false" @default.
• W2048552941 isRetracted "false" @default.

• next