Matches in SemOpenAlex for { <https://semopenalex.org/work/W2160365302> ?p ?o ?g. }
Showing items 1 to 82 of
82
with 100 items per page.
- W2160365302 endingPage "170" @default.
- W2160365302 startingPage "168" @default.
- W2160365302 abstract "Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterised by variability in both age of onset and clinical features. Despite the recent identification of the CAG expansion mutation in DRPLA, the number of molecularly confirmed cases remains small. Given its rarity and prominent phenotypic heterogeneity, some care needs to be exercised in the interpretation and dissemination of test results derived from direct gene testing for the DRPLA specific expansion mutation." @default.
- W2160365302 created "2016-06-24" @default.
- W2160365302 creator A5043752048 @default.
- W2160365302 date "1996-02-01" @default.
- W2160365302 modified "2023-09-26" @default.
- W2160365302 title "The relationship between (CAG)n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA): diagnostic implications of confirmatory and predictive testing." @default.
- W2160365302 cites W1982641921 @default.
- W2160365302 cites W1984914595 @default.
- W2160365302 cites W1988032157 @default.
- W2160365302 cites W1998375974 @default.
- W2160365302 cites W1998579485 @default.
- W2160365302 cites W2012481532 @default.
- W2160365302 cites W2069470894 @default.
- W2160365302 cites W2074620908 @default.
- W2160365302 cites W2114308431 @default.
- W2160365302 cites W2137374371 @default.
- W2160365302 cites W2146213502 @default.
- W2160365302 cites W2153158846 @default.
- W2160365302 cites W2162985377 @default.
- W2160365302 cites W2330059382 @default.
- W2160365302 cites W2772546281 @default.
- W2160365302 doi "https://doi.org/10.1136/jmg.33.2.168" @default.
- W2160365302 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1051847" @default.
- W2160365302 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8929958" @default.
- W2160365302 hasPublicationYear "1996" @default.
- W2160365302 type Work @default.
- W2160365302 sameAs 2160365302 @default.
- W2160365302 citedByCount "11" @default.
- W2160365302 countsByYear W21603653022012 @default.
- W2160365302 crossrefType "journal-article" @default.
- W2160365302 hasAuthorship W2160365302A5043752048 @default.
- W2160365302 hasBestOaLocation W21603653021 @default.
- W2160365302 hasConcept C104317684 @default.
- W2160365302 hasConcept C126322002 @default.
- W2160365302 hasConcept C127716648 @default.
- W2160365302 hasConcept C166252455 @default.
- W2160365302 hasConcept C180754005 @default.
- W2160365302 hasConcept C2777767895 @default.
- W2160365302 hasConcept C2779134260 @default.
- W2160365302 hasConcept C2780673598 @default.
- W2160365302 hasConcept C2781172350 @default.
- W2160365302 hasConcept C501734568 @default.
- W2160365302 hasConcept C54355233 @default.
- W2160365302 hasConcept C71924100 @default.
- W2160365302 hasConcept C86803240 @default.
- W2160365302 hasConceptScore W2160365302C104317684 @default.
- W2160365302 hasConceptScore W2160365302C126322002 @default.
- W2160365302 hasConceptScore W2160365302C127716648 @default.
- W2160365302 hasConceptScore W2160365302C166252455 @default.
- W2160365302 hasConceptScore W2160365302C180754005 @default.
- W2160365302 hasConceptScore W2160365302C2777767895 @default.
- W2160365302 hasConceptScore W2160365302C2779134260 @default.
- W2160365302 hasConceptScore W2160365302C2780673598 @default.
- W2160365302 hasConceptScore W2160365302C2781172350 @default.
- W2160365302 hasConceptScore W2160365302C501734568 @default.
- W2160365302 hasConceptScore W2160365302C54355233 @default.
- W2160365302 hasConceptScore W2160365302C71924100 @default.
- W2160365302 hasConceptScore W2160365302C86803240 @default.
- W2160365302 hasIssue "2" @default.
- W2160365302 hasLocation W21603653021 @default.
- W2160365302 hasLocation W21603653022 @default.
- W2160365302 hasLocation W21603653023 @default.
- W2160365302 hasLocation W21603653024 @default.
- W2160365302 hasOpenAccess W2160365302 @default.
- W2160365302 hasPrimaryLocation W21603653021 @default.
- W2160365302 hasRelatedWork W1600162900 @default.
- W2160365302 hasRelatedWork W1965697056 @default.
- W2160365302 hasRelatedWork W2013158704 @default.
- W2160365302 hasRelatedWork W2031464773 @default.
- W2160365302 hasRelatedWork W2057188689 @default.
- W2160365302 hasRelatedWork W2094445906 @default.
- W2160365302 hasRelatedWork W2100991315 @default.
- W2160365302 hasRelatedWork W2149447718 @default.
- W2160365302 hasRelatedWork W2394797755 @default.
- W2160365302 hasRelatedWork W2924049044 @default.
- W2160365302 hasVolume "33" @default.
- W2160365302 isParatext "false" @default.
- W2160365302 isRetracted "false" @default.
- W2160365302 magId "2160365302" @default.
- W2160365302 workType "article" @default.