FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3136294655> ?p ?o ?g. }

• W3136294655 abstract "Abstract Frontotemporal dementia (FTD) refers to a complex spectrum of clinically and genetically heterogeneous disorders. Although fully penetrant mutations in several genes have been identified and can explain the pathogenic mechanisms underlying a great portion of the Mendelian forms of the disease, still a significant number of families and sporadic cases remains genetically unsolved. We performed whole exome sequencing in 100 patients with a late-onset and heterogeneous FTD-like clinical phenotype from Apulia and screened mendelian dementia and neuronal ceroid lipofuscinosis genes. We identified a nonsense mutation in SORL1 VPS domain (p.R744X), in 2 siblings displaying AD with severe language problems and primary progressive aphasia and a near splice-site mutation in CLCN6 (p.S116P) segregating with an heterogeneous phenotype, ranging from behavioural FTD to FTD with memory onset and to the logopenic variant of primary progressive aphasia in one family. Moreover 2 sporadic cases with behavioural FTD carried heterozygous mutations in the CSF1R Tyrosin kinase flanking regions (p.E573K and p.R549H). By contrast, only a minority of patients carried pathogenic C9orf72 repeat expansions (1%) and likely moderately pathogenic variants in GRN (p.C105Y, p.C389fs and p.C139R) (3%). In concert with recent studies, our findings support a common pathogenic mechanisms between FTD and neuronal ceroid lipofuscinosis and suggests that neuronal ceroid lipofuscinosis genes should be investigated also in dementia patients with predominant frontal symptoms and language impairments." @default.
• W3136294655 created "2021-03-29" @default.
• W3136294655 creator A5005340246 @default.
• W3136294655 creator A5006055939 @default.
• W3136294655 creator A5007031067 @default.
• W3136294655 creator A5029854155 @default.
• W3136294655 creator A5045681063 @default.
• W3136294655 creator A5046319503 @default.
• W3136294655 creator A5046583753 @default.
• W3136294655 creator A5047104019 @default.
• W3136294655 creator A5060371194 @default.
• W3136294655 creator A5063736296 @default.
• W3136294655 creator A5072627174 @default.
• W3136294655 creator A5082840578 @default.
• W3136294655 date "2021-03-18" @default.
• W3136294655 modified "2023-10-03" @default.
• W3136294655 title "Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia" @default.
• W3136294655 cites W1547368485 @default.
• W3136294655 cites W1919257374 @default.
• W3136294655 cites W1971280899 @default.
• W3136294655 cites W1971565607 @default.
• W3136294655 cites W1979315191 @default.
• W3136294655 cites W1984068087 @default.
• W3136294655 cites W1984544042 @default.
• W3136294655 cites W1984557585 @default.
• W3136294655 cites W1985677681 @default.
• W3136294655 cites W2000809303 @default.
• W3136294655 cites W2008996000 @default.
• W3136294655 cites W2018338123 @default.
• W3136294655 cites W2036468699 @default.
• W3136294655 cites W2037166708 @default.
• W3136294655 cites W2039756269 @default.
• W3136294655 cites W2052580550 @default.
• W3136294655 cites W2058880763 @default.
• W3136294655 cites W2073164785 @default.
• W3136294655 cites W2085284578 @default.
• W3136294655 cites W2086406144 @default.
• W3136294655 cites W2100181299 @default.
• W3136294655 cites W2102213696 @default.
• W3136294655 cites W2103441770 @default.
• W3136294655 cites W2107420626 @default.
• W3136294655 cites W2107789567 @default.
• W3136294655 cites W2116114613 @default.
• W3136294655 cites W2119487442 @default.
• W3136294655 cites W2121349242 @default.
• W3136294655 cites W2129952088 @default.
• W3136294655 cites W2139772062 @default.
• W3136294655 cites W2150523249 @default.
• W3136294655 cites W2155613422 @default.
• W3136294655 cites W2161633633 @default.
• W3136294655 cites W2162362319 @default.
• W3136294655 cites W2162906229 @default.
• W3136294655 cites W2164546438 @default.
• W3136294655 cites W2168133698 @default.
• W3136294655 cites W2409374116 @default.
• W3136294655 cites W2520739530 @default.
• W3136294655 cites W2544929416 @default.
• W3136294655 cites W2606944807 @default.
• W3136294655 cites W2622665060 @default.
• W3136294655 cites W2786028164 @default.
• W3136294655 cites W2789445566 @default.
• W3136294655 cites W2890084884 @default.
• W3136294655 cites W2901193227 @default.
• W3136294655 cites W3018807282 @default.
• W3136294655 doi "https://doi.org/10.1038/s41598-021-85494-x" @default.
• W3136294655 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7973810" @default.
• W3136294655 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33737586" @default.
• W3136294655 hasPublicationYear "2021" @default.
• W3136294655 type Work @default.
• W3136294655 sameAs 3136294655 @default.
• W3136294655 citedByCount "5" @default.
• W3136294655 countsByYear W31362946552021 @default.
• W3136294655 countsByYear W31362946552022 @default.
• W3136294655 countsByYear W31362946552023 @default.
• W3136294655 crossrefType "journal-article" @default.
• W3136294655 hasAuthorship W3136294655A5005340246 @default.
• W3136294655 hasAuthorship W3136294655A5006055939 @default.
• W3136294655 hasAuthorship W3136294655A5007031067 @default.
• W3136294655 hasAuthorship W3136294655A5029854155 @default.
• W3136294655 hasAuthorship W3136294655A5045681063 @default.
• W3136294655 hasAuthorship W3136294655A5046319503 @default.
• W3136294655 hasAuthorship W3136294655A5046583753 @default.
• W3136294655 hasAuthorship W3136294655A5047104019 @default.
• W3136294655 hasAuthorship W3136294655A5060371194 @default.
• W3136294655 hasAuthorship W3136294655A5063736296 @default.
• W3136294655 hasAuthorship W3136294655A5072627174 @default.
• W3136294655 hasAuthorship W3136294655A5082840578 @default.
• W3136294655 hasBestOaLocation W31362946551 @default.
• W3136294655 hasConcept C104317684 @default.
• W3136294655 hasConcept C127716648 @default.
• W3136294655 hasConcept C142724271 @default.
• W3136294655 hasConcept C16671776 @default.
• W3136294655 hasConcept C169760540 @default.
• W3136294655 hasConcept C175783326 @default.
• W3136294655 hasConcept C2777898937 @default.
• W3136294655 hasConcept C2778641062 @default.
• W3136294655 hasConcept C2778650512 @default.
• W3136294655 hasConcept C2779116556 @default.
• W3136294655 hasConcept C2779134260 @default.
• W3136294655 hasConcept C2779140760 @default.

• next