FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3138897524> ?p ?o ?g. }

• W3138897524 endingPage "907" @default.
• W3138897524 startingPage "901" @default.
• W3138897524 abstract "Variants in PARKIN, PINK1, and DJ1 are associated with early-onset Parkinson’ disease (EOPD, age-at-onset < 45). We previously reported a single PINK1 and a single DJ1 heterozygous variant carrier. We aimed to expand upon our previous EOPD studies and investigate for any genotype–phenotype correlations in Irish PD. Three hundred fourteen PD patients were recruited from Dublin Neurological Institute, Ireland. Genetic analysis was performed at the Mayo Clinic, Jacksonville, USA. We screened 81 patients with young-onset PD (age-at-onset < 50), of which 58 had EOPD. We identified 4 patients with homozygous/compound heterozygous variants and 3 heterozygote carriers (pathogenic PINK1/DJ1 variants were not found). Expansion of one of the pedigrees showed a novel variant in exon 9, in a symptomatic patient. We identified 6.89% PARKIN variant carriers associated with EOPD. These findings suggest that PINK1 and DJ1 are rarely associated with Irish YOPD, while PARKIN variant frequency is similar to that reported worldwide." @default.
• W3138897524 created "2021-03-29" @default.
• W3138897524 creator A5022454816 @default.
• W3138897524 creator A5072399768 @default.
• W3138897524 creator A5073233893 @default.
• W3138897524 creator A5073347710 @default.
• W3138897524 creator A5074593768 @default.
• W3138897524 creator A5091182688 @default.
• W3138897524 date "2021-03-22" @default.
• W3138897524 modified "2023-10-18" @default.
• W3138897524 title "PARKIN, PINK1, and DJ1 analysis in early-onset Parkinson’s disease in Ireland" @default.
• W3138897524 cites W1971331756 @default.
• W3138897524 cites W1980449640 @default.
• W3138897524 cites W1980740976 @default.
• W3138897524 cites W1999154830 @default.
• W3138897524 cites W2015194553 @default.
• W3138897524 cites W2026548628 @default.
• W3138897524 cites W2028399001 @default.
• W3138897524 cites W2037835417 @default.
• W3138897524 cites W2040140774 @default.
• W3138897524 cites W2054322764 @default.
• W3138897524 cites W2059145105 @default.
• W3138897524 cites W2062729163 @default.
• W3138897524 cites W2076357933 @default.
• W3138897524 cites W2082257476 @default.
• W3138897524 cites W2086090834 @default.
• W3138897524 cites W2088383978 @default.
• W3138897524 cites W2092293921 @default.
• W3138897524 cites W2095202142 @default.
• W3138897524 cites W2104382960 @default.
• W3138897524 cites W2107977469 @default.
• W3138897524 cites W2116364482 @default.
• W3138897524 cites W2125825438 @default.
• W3138897524 cites W2131251654 @default.
• W3138897524 cites W2146734693 @default.
• W3138897524 cites W2156168338 @default.
• W3138897524 cites W2164518637 @default.
• W3138897524 cites W2465579571 @default.
• W3138897524 cites W2513924437 @default.
• W3138897524 cites W2546834208 @default.
• W3138897524 cites W2547629650 @default.
• W3138897524 cites W2767687660 @default.
• W3138897524 cites W3022132445 @default.
• W3138897524 cites W3087930232 @default.
• W3138897524 cites W4320800434 @default.
• W3138897524 doi "https://doi.org/10.1007/s11845-021-02563-w" @default.
• W3138897524 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33751372" @default.
• W3138897524 hasPublicationYear "2021" @default.
• W3138897524 type Work @default.
• W3138897524 sameAs 3138897524 @default.
• W3138897524 citedByCount "5" @default.
• W3138897524 countsByYear W31388975242022 @default.
• W3138897524 countsByYear W31388975242023 @default.
• W3138897524 crossrefType "journal-article" @default.
• W3138897524 hasAuthorship W3138897524A5022454816 @default.
• W3138897524 hasAuthorship W3138897524A5072399768 @default.
• W3138897524 hasAuthorship W3138897524A5073233893 @default.
• W3138897524 hasAuthorship W3138897524A5073347710 @default.
• W3138897524 hasAuthorship W3138897524A5074593768 @default.
• W3138897524 hasAuthorship W3138897524A5091182688 @default.
• W3138897524 hasBestOaLocation W31388975242 @default.
• W3138897524 hasConcept C104317684 @default.
• W3138897524 hasConcept C12125453 @default.
• W3138897524 hasConcept C126322002 @default.
• W3138897524 hasConcept C135763542 @default.
• W3138897524 hasConcept C153471976 @default.
• W3138897524 hasConcept C180754005 @default.
• W3138897524 hasConcept C22593422 @default.
• W3138897524 hasConcept C2776804853 @default.
• W3138897524 hasConcept C2777668072 @default.
• W3138897524 hasConcept C2779134260 @default.
• W3138897524 hasConcept C2779734285 @default.
• W3138897524 hasConcept C2780427247 @default.
• W3138897524 hasConcept C54355233 @default.
• W3138897524 hasConcept C71924100 @default.
• W3138897524 hasConcept C86803240 @default.
• W3138897524 hasConceptScore W3138897524C104317684 @default.
• W3138897524 hasConceptScore W3138897524C12125453 @default.
• W3138897524 hasConceptScore W3138897524C126322002 @default.
• W3138897524 hasConceptScore W3138897524C135763542 @default.
• W3138897524 hasConceptScore W3138897524C153471976 @default.
• W3138897524 hasConceptScore W3138897524C180754005 @default.
• W3138897524 hasConceptScore W3138897524C22593422 @default.
• W3138897524 hasConceptScore W3138897524C2776804853 @default.
• W3138897524 hasConceptScore W3138897524C2777668072 @default.
• W3138897524 hasConceptScore W3138897524C2779134260 @default.
• W3138897524 hasConceptScore W3138897524C2779734285 @default.
• W3138897524 hasConceptScore W3138897524C2780427247 @default.
• W3138897524 hasConceptScore W3138897524C54355233 @default.
• W3138897524 hasConceptScore W3138897524C71924100 @default.
• W3138897524 hasConceptScore W3138897524C86803240 @default.
• W3138897524 hasFunder F4320306078 @default.
• W3138897524 hasFunder F4320306136 @default.
• W3138897524 hasFunder F4320311913 @default.
• W3138897524 hasFunder F4320312041 @default.
• W3138897524 hasFunder F4320332161 @default.
• W3138897524 hasFunder F4320333659 @default.
• W3138897524 hasIssue "2" @default.

• next