FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1964044265> ?p ?o ?g. }

• W1964044265 endingPage "1265" @default.
• W1964044265 startingPage "1260" @default.
• W1964044265 abstract "Frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative disease with an age at onset generally below 65 years. Mutations in progranulin (GRN) have been reported to be able to cause FTLD through haploinsufficiency. We have sequenced GRN in 121 patients with FTLD and detected six different mutations in eight patients: p.Gly35Glufs*19, p.Asn118Phefs*4, p.Val200Glyfs*18, p.Tyr294*, p.Cys404* and p.Cys416Leufs*30. Serum was available for five of the mutations, where the serum-GRN levels were found to be >50% reduced compared with FTLD patients without GRN mutations. Moreover, the p.Cys416Leufs*30 mutation segregated in an affected family with different dementia diagnoses. The mutation frequency of GRN mutation was 6.6% in our FTLD cohort." @default.
• W1964044265 created "2016-06-24" @default.
• W1964044265 creator A5000752828 @default.
• W1964044265 creator A5012540754 @default.
• W1964044265 creator A5013827091 @default.
• W1964044265 creator A5021138224 @default.
• W1964044265 creator A5023712959 @default.
• W1964044265 creator A5030244988 @default.
• W1964044265 creator A5034448803 @default.
• W1964044265 creator A5042231831 @default.
• W1964044265 creator A5048307184 @default.
• W1964044265 creator A5084199057 @default.
• W1964044265 date "2013-03-06" @default.
• W1964044265 modified "2023-10-18" @default.
• W1964044265 title "Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration" @default.
• W1964044265 cites W1511517753 @default.
• W1964044265 cites W1974583546 @default.
• W1964044265 cites W1988650085 @default.
• W1964044265 cites W1995715453 @default.
• W1964044265 cites W2001811842 @default.
• W1964044265 cites W2005731595 @default.
• W1964044265 cites W2007556408 @default.
• W1964044265 cites W2010528085 @default.
• W1964044265 cites W2016089512 @default.
• W1964044265 cites W2021985297 @default.
• W1964044265 cites W2027460468 @default.
• W1964044265 cites W2037449168 @default.
• W1964044265 cites W2043759922 @default.
• W1964044265 cites W2044101318 @default.
• W1964044265 cites W2047517574 @default.
• W1964044265 cites W2065617421 @default.
• W1964044265 cites W2067439875 @default.
• W1964044265 cites W2067772208 @default.
• W1964044265 cites W2073704038 @default.
• W1964044265 cites W2077792283 @default.
• W1964044265 cites W2079504310 @default.
• W1964044265 cites W2082973072 @default.
• W1964044265 cites W2090224607 @default.
• W1964044265 cites W2091173932 @default.
• W1964044265 cites W2098219309 @default.
• W1964044265 cites W2099759641 @default.
• W1964044265 cites W2101738226 @default.
• W1964044265 cites W2102932082 @default.
• W1964044265 cites W2115694724 @default.
• W1964044265 cites W2125044837 @default.
• W1964044265 cites W2125948889 @default.
• W1964044265 cites W2136729000 @default.
• W1964044265 cites W2148058458 @default.
• W1964044265 cites W2150523249 @default.
• W1964044265 cites W2152481146 @default.
• W1964044265 cites W2154945114 @default.
• W1964044265 cites W2163955717 @default.
• W1964044265 doi "https://doi.org/10.1038/ejhg.2013.37" @default.
• W1964044265 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3798842" @default.
• W1964044265 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23463024" @default.
• W1964044265 hasPublicationYear "2013" @default.
• W1964044265 type Work @default.
• W1964044265 sameAs 1964044265 @default.
• W1964044265 citedByCount "9" @default.
• W1964044265 countsByYear W19640442652015 @default.
• W1964044265 countsByYear W19640442652016 @default.
• W1964044265 countsByYear W19640442652019 @default.
• W1964044265 countsByYear W19640442652020 @default.
• W1964044265 countsByYear W19640442652021 @default.
• W1964044265 countsByYear W19640442652022 @default.
• W1964044265 countsByYear W19640442652023 @default.
• W1964044265 crossrefType "journal-article" @default.
• W1964044265 hasAuthorship W1964044265A5000752828 @default.
• W1964044265 hasAuthorship W1964044265A5012540754 @default.
• W1964044265 hasAuthorship W1964044265A5013827091 @default.
• W1964044265 hasAuthorship W1964044265A5021138224 @default.
• W1964044265 hasAuthorship W1964044265A5023712959 @default.
• W1964044265 hasAuthorship W1964044265A5030244988 @default.
• W1964044265 hasAuthorship W1964044265A5034448803 @default.
• W1964044265 hasAuthorship W1964044265A5042231831 @default.
• W1964044265 hasAuthorship W1964044265A5048307184 @default.
• W1964044265 hasAuthorship W1964044265A5084199057 @default.
• W1964044265 hasBestOaLocation W19640442651 @default.
• W1964044265 hasConcept C104317684 @default.
• W1964044265 hasConcept C126322002 @default.
• W1964044265 hasConcept C127716648 @default.
• W1964044265 hasConcept C142724271 @default.
• W1964044265 hasConcept C2776939681 @default.
• W1964044265 hasConcept C2777898937 @default.
• W1964044265 hasConcept C2778641062 @default.
• W1964044265 hasConcept C2779134260 @default.
• W1964044265 hasConcept C2779483572 @default.
• W1964044265 hasConcept C501734568 @default.
• W1964044265 hasConcept C54355233 @default.
• W1964044265 hasConcept C68838962 @default.
• W1964044265 hasConcept C71924100 @default.
• W1964044265 hasConcept C86803240 @default.
• W1964044265 hasConceptScore W1964044265C104317684 @default.
• W1964044265 hasConceptScore W1964044265C126322002 @default.
• W1964044265 hasConceptScore W1964044265C127716648 @default.
• W1964044265 hasConceptScore W1964044265C142724271 @default.
• W1964044265 hasConceptScore W1964044265C2776939681 @default.
• W1964044265 hasConceptScore W1964044265C2777898937 @default.

• next