FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2895581552> ?p ?o ?g. }

• W2895581552 endingPage "39" @default.
• W2895581552 startingPage "34" @default.
• W2895581552 abstract "Since its localization to the NKX2-1 gene in 2002, the phenotype of the disorder historically called benign hereditary chorea has been expanding beyond chorea.The phenomenology of movement disorders and other symptomatology associated with mutations in NKX2-1 were characterized after a detailed evaluation of consecutive patients evaluated in our clinic over the past 3 years.We studied 5 patients (3 females), ages 2 to 31 years, with confirmed pathogenic variants in NKX2-1. All patients exhibited chorea, gross motor delay, and gait impairment. Other symptoms included neonatal respiratory failure (n = 4), cognitive deficits (n = 3), hypothyroidism (n = 4), joint laxity (n = 2), myoclonus (n = 1), hypotonia (n = 3), and seizures (n = 1). Chorea often proved refractory to medical therapies.The phenotype associated with pathogenic variants in NKX2-1 frequently includes disabling and often medically refractory neurological and non-neurological abnormalities. We therefore suggest that the term benign hereditary chorea be abandoned in favor of its genetic designation as NKX2-1-related disorder." @default.
• W2895581552 created "2018-10-12" @default.
• W2895581552 creator A5026866310 @default.
• W2895581552 creator A5068655451 @default.
• W2895581552 creator A5069992127 @default.
• W2895581552 date "2018-11-09" @default.
• W2895581552 modified "2023-10-14" @default.
• W2895581552 title "Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused by<i>NKX2-1</i>Mutations" @default.
• W2895581552 cites W1517370822 @default.
• W2895581552 cites W1905244003 @default.
• W2895581552 cites W1969285038 @default.
• W2895581552 cites W1976784342 @default.
• W2895581552 cites W1985490660 @default.
• W2895581552 cites W1997135475 @default.
• W2895581552 cites W2022711491 @default.
• W2895581552 cites W2025070911 @default.
• W2895581552 cites W2045259597 @default.
• W2895581552 cites W2047505539 @default.
• W2895581552 cites W2048565856 @default.
• W2895581552 cites W2051978340 @default.
• W2895581552 cites W2089492108 @default.
• W2895581552 cites W2090937653 @default.
• W2895581552 cites W2096374604 @default.
• W2895581552 cites W2096690222 @default.
• W2895581552 cites W2107814659 @default.
• W2895581552 cites W2109485417 @default.
• W2895581552 cites W2116199324 @default.
• W2895581552 cites W2124124986 @default.
• W2895581552 cites W2124342584 @default.
• W2895581552 cites W2138676725 @default.
• W2895581552 cites W2139984958 @default.
• W2895581552 cites W2140915491 @default.
• W2895581552 cites W2167862658 @default.
• W2895581552 cites W2262541084 @default.
• W2895581552 cites W2301230530 @default.
• W2895581552 cites W2338846212 @default.
• W2895581552 cites W2522995791 @default.
• W2895581552 cites W2553943492 @default.
• W2895581552 cites W2588352977 @default.
• W2895581552 cites W2594179202 @default.
• W2895581552 cites W2612637430 @default.
• W2895581552 cites W2617381634 @default.
• W2895581552 cites W2749159502 @default.
• W2895581552 cites W2767999866 @default.
• W2895581552 cites W2785833721 @default.
• W2895581552 cites W2792951886 @default.
• W2895581552 cites W4242476010 @default.
• W2895581552 doi "https://doi.org/10.1002/mdc3.12690" @default.
• W2895581552 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6335533" @default.
• W2895581552 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30746413" @default.
• W2895581552 hasPublicationYear "2018" @default.
• W2895581552 type Work @default.
• W2895581552 sameAs 2895581552 @default.
• W2895581552 citedByCount "17" @default.
• W2895581552 countsByYear W28955815522019 @default.
• W2895581552 countsByYear W28955815522020 @default.
• W2895581552 countsByYear W28955815522021 @default.
• W2895581552 countsByYear W28955815522022 @default.
• W2895581552 countsByYear W28955815522023 @default.
• W2895581552 crossrefType "journal-article" @default.
• W2895581552 hasAuthorship W2895581552A5026866310 @default.
• W2895581552 hasAuthorship W2895581552A5068655451 @default.
• W2895581552 hasAuthorship W2895581552A5069992127 @default.
• W2895581552 hasBestOaLocation W28955815521 @default.
• W2895581552 hasConcept C118552586 @default.
• W2895581552 hasConcept C121332964 @default.
• W2895581552 hasConcept C126322002 @default.
• W2895581552 hasConcept C142424586 @default.
• W2895581552 hasConcept C187212893 @default.
• W2895581552 hasConcept C2778261627 @default.
• W2895581552 hasConcept C2778559928 @default.
• W2895581552 hasConcept C2778868616 @default.
• W2895581552 hasConcept C2779134260 @default.
• W2895581552 hasConcept C2779546488 @default.
• W2895581552 hasConcept C2779734285 @default.
• W2895581552 hasConcept C2780405171 @default.
• W2895581552 hasConcept C2908567754 @default.
• W2895581552 hasConcept C71924100 @default.
• W2895581552 hasConcept C87355193 @default.
• W2895581552 hasConceptScore W2895581552C118552586 @default.
• W2895581552 hasConceptScore W2895581552C121332964 @default.
• W2895581552 hasConceptScore W2895581552C126322002 @default.
• W2895581552 hasConceptScore W2895581552C142424586 @default.
• W2895581552 hasConceptScore W2895581552C187212893 @default.
• W2895581552 hasConceptScore W2895581552C2778261627 @default.
• W2895581552 hasConceptScore W2895581552C2778559928 @default.
• W2895581552 hasConceptScore W2895581552C2778868616 @default.
• W2895581552 hasConceptScore W2895581552C2779134260 @default.
• W2895581552 hasConceptScore W2895581552C2779546488 @default.
• W2895581552 hasConceptScore W2895581552C2779734285 @default.
• W2895581552 hasConceptScore W2895581552C2780405171 @default.
• W2895581552 hasConceptScore W2895581552C2908567754 @default.
• W2895581552 hasConceptScore W2895581552C71924100 @default.
• W2895581552 hasConceptScore W2895581552C87355193 @default.
• W2895581552 hasIssue "1" @default.
• W2895581552 hasLocation W28955815521 @default.
• W2895581552 hasLocation W28955815522 @default.
• W2895581552 hasLocation W28955815523 @default.

• next