FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2768809925> ?p ?o ?g. }

• W2768809925 endingPage "157.e5" @default.
• W2768809925 startingPage "157.e1" @default.
• W2768809925 abstract "To clarify the possible involvement of intermediate ATXN1 alleles as risk factors for amyotrophic lateral sclerosis (ALS), we tested ATXN1 in a cohort of 1146 Italian ALS patients, previously screened for variants in other ALS genes, and in 529 controls. We detected ATXN1 alleles with ≥33 polyglutamine repeats in 105 of 1146 patients (9.16%) and 29 of 529 controls (5.48%) (p = 0.003). The frequency of ATXN1 alleles with ≥33 polyglutamine repeats was particularly high in the group of ALS patients carrying the C9orf72 expansion (12/59, 20.3%). We confirmed this result in an independent cohort of C9orf72 Italian patients (10/80 cases, 12.5%), thus finding a cumulative frequency of ATXN1 expansion of 15.82% in C9orf72 carriers (p = 2.40E-05). Our results strongly support the hypothesis that ATXN1 could act as a disease risk gene in ALS, mostly in C9orf72 expansion carriers. Further studies are needed to confirm our results and to define the mechanism by which ATXN1 might contribute to neuronal degeneration leading to ALS." @default.
• W2768809925 created "2017-12-04" @default.
• W2768809925 creator A5001989736 @default.
• W2768809925 creator A5009528571 @default.
• W2768809925 creator A5020504485 @default.
• W2768809925 creator A5022091308 @default.
• W2768809925 creator A5022524234 @default.
• W2768809925 creator A5023451940 @default.
• W2768809925 creator A5049786301 @default.
• W2768809925 creator A5050917934 @default.
• W2768809925 creator A5052492968 @default.
• W2768809925 creator A5056517566 @default.
• W2768809925 creator A5072252835 @default.
• W2768809925 creator A5081609640 @default.
• W2768809925 creator A5085166841 @default.
• W2768809925 creator A5089224806 @default.
• W2768809925 date "2018-04-01" @default.
• W2768809925 modified "2023-09-27" @default.
• W2768809925 title "ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis" @default.
• W2768809925 cites W1012257715 @default.
• W2768809925 cites W2015805588 @default.
• W2768809925 cites W2016010006 @default.
• W2768809925 cites W2016332933 @default.
• W2768809925 cites W2066828509 @default.
• W2768809925 cites W2072936799 @default.
• W2768809925 cites W2097504226 @default.
• W2768809925 cites W2109274553 @default.
• W2768809925 cites W2109350663 @default.
• W2768809925 cites W2113413587 @default.
• W2768809925 cites W2149122401 @default.
• W2768809925 cites W2159194958 @default.
• W2768809925 cites W2255469197 @default.
• W2768809925 cites W2261626136 @default.
• W2768809925 cites W2336528486 @default.
• W2768809925 cites W2406553940 @default.
• W2768809925 cites W2550109145 @default.
• W2768809925 cites W2562565311 @default.
• W2768809925 doi "https://doi.org/10.1016/j.neurobiolaging.2017.11.011" @default.
• W2768809925 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29274668" @default.
• W2768809925 hasPublicationYear "2018" @default.
• W2768809925 type Work @default.
• W2768809925 sameAs 2768809925 @default.
• W2768809925 citedByCount "32" @default.
• W2768809925 countsByYear W27688099252019 @default.
• W2768809925 countsByYear W27688099252020 @default.
• W2768809925 countsByYear W27688099252021 @default.
• W2768809925 countsByYear W27688099252022 @default.
• W2768809925 countsByYear W27688099252023 @default.
• W2768809925 crossrefType "journal-article" @default.
• W2768809925 hasAuthorship W2768809925A5001989736 @default.
• W2768809925 hasAuthorship W2768809925A5009528571 @default.
• W2768809925 hasAuthorship W2768809925A5020504485 @default.
• W2768809925 hasAuthorship W2768809925A5022091308 @default.
• W2768809925 hasAuthorship W2768809925A5022524234 @default.
• W2768809925 hasAuthorship W2768809925A5023451940 @default.
• W2768809925 hasAuthorship W2768809925A5049786301 @default.
• W2768809925 hasAuthorship W2768809925A5050917934 @default.
• W2768809925 hasAuthorship W2768809925A5052492968 @default.
• W2768809925 hasAuthorship W2768809925A5056517566 @default.
• W2768809925 hasAuthorship W2768809925A5072252835 @default.
• W2768809925 hasAuthorship W2768809925A5081609640 @default.
• W2768809925 hasAuthorship W2768809925A5085166841 @default.
• W2768809925 hasAuthorship W2768809925A5089224806 @default.
• W2768809925 hasBestOaLocation W27688099252 @default.
• W2768809925 hasConcept C104317684 @default.
• W2768809925 hasConcept C126322002 @default.
• W2768809925 hasConcept C143998085 @default.
• W2768809925 hasConcept C166252455 @default.
• W2768809925 hasConcept C180754005 @default.
• W2768809925 hasConcept C2777898937 @default.
• W2768809925 hasConcept C2779134260 @default.
• W2768809925 hasConcept C2779500118 @default.
• W2768809925 hasConcept C2780596555 @default.
• W2768809925 hasConcept C54355233 @default.
• W2768809925 hasConcept C71924100 @default.
• W2768809925 hasConcept C72563966 @default.
• W2768809925 hasConcept C86803240 @default.
• W2768809925 hasConceptScore W2768809925C104317684 @default.
• W2768809925 hasConceptScore W2768809925C126322002 @default.
• W2768809925 hasConceptScore W2768809925C143998085 @default.
• W2768809925 hasConceptScore W2768809925C166252455 @default.
• W2768809925 hasConceptScore W2768809925C180754005 @default.
• W2768809925 hasConceptScore W2768809925C2777898937 @default.
• W2768809925 hasConceptScore W2768809925C2779134260 @default.
• W2768809925 hasConceptScore W2768809925C2779500118 @default.
• W2768809925 hasConceptScore W2768809925C2780596555 @default.
• W2768809925 hasConceptScore W2768809925C54355233 @default.
• W2768809925 hasConceptScore W2768809925C71924100 @default.
• W2768809925 hasConceptScore W2768809925C72563966 @default.
• W2768809925 hasConceptScore W2768809925C86803240 @default.
• W2768809925 hasLocation W27688099251 @default.
• W2768809925 hasLocation W27688099252 @default.
• W2768809925 hasLocation W27688099253 @default.
• W2768809925 hasOpenAccess W2768809925 @default.
• W2768809925 hasPrimaryLocation W27688099251 @default.
• W2768809925 hasRelatedWork W1970972148 @default.
• W2768809925 hasRelatedWork W2107446322 @default.
• W2768809925 hasRelatedWork W2176573583 @default.

• next