FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2897431342> ?p ?o ?g. }

• W2897431342 endingPage "56" @default.
• W2897431342 startingPage "51" @default.
• W2897431342 abstract "ABSTRACT Background and Methods Mutations in WDR45 cause β‐propeller protein‐associated neurodegeneration (BPAN), a type of neurodegeneration with brain iron accumulation (NBIA). We reviewed clinical and MRI findings in 4 patients with de novo WDR45 mutations. Results Psychomotor delay and movement disorders were present in all cases; early‐onset epileptic encephalopathy was present in 3. In all cases, first MRI showed: prominent bilateral SN enlargement, bilateral dentate nuclei T2‐hyperintensity, and corpus callosum thinning. Iron deposition in the SN and globus pallidus (GP) only became evident later. Diffuse cerebral atrophy was present in 3 cases. Conclusions In this series, SN swelling and dentate nucleus T2 hyperintensity were early signs of BPAN, later followed by progressive iron deposition in the SN and GP. When clinical suspicion is raised, MRI is crucial for identifying early features suggesting this type of NBIA." @default.
• W2897431342 created "2018-10-26" @default.
• W2897431342 creator A5011987810 @default.
• W2897431342 creator A5014835875 @default.
• W2897431342 creator A5028499624 @default.
• W2897431342 creator A5034471018 @default.
• W2897431342 creator A5052212659 @default.
• W2897431342 creator A5052634729 @default.
• W2897431342 creator A5062771449 @default.
• W2897431342 creator A5076170457 @default.
• W2897431342 creator A5082455191 @default.
• W2897431342 creator A5086860589 @default.
• W2897431342 creator A5091163315 @default.
• W2897431342 date "2018-11-09" @default.
• W2897431342 modified "2023-10-18" @default.
• W2897431342 title "Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β‐Propeller Protein‐Associated Neurodegeneration" @default.
• W2897431342 cites W1690429709 @default.
• W2897431342 cites W171019578 @default.
• W2897431342 cites W1920030402 @default.
• W2897431342 cites W1987735399 @default.
• W2897431342 cites W1987832874 @default.
• W2897431342 cites W1990791884 @default.
• W2897431342 cites W2009065397 @default.
• W2897431342 cites W2019596992 @default.
• W2897431342 cites W2029224753 @default.
• W2897431342 cites W2029644308 @default.
• W2897431342 cites W2062269018 @default.
• W2897431342 cites W2076781430 @default.
• W2897431342 cites W2083488981 @default.
• W2897431342 cites W2105173064 @default.
• W2897431342 cites W2108856138 @default.
• W2897431342 cites W2112867510 @default.
• W2897431342 cites W2122147433 @default.
• W2897431342 cites W2139733242 @default.
• W2897431342 cites W2146336531 @default.
• W2897431342 cites W2159322366 @default.
• W2897431342 cites W2275125657 @default.
• W2897431342 cites W2314313116 @default.
• W2897431342 cites W2336265991 @default.
• W2897431342 cites W2417885397 @default.
• W2897431342 cites W2517121990 @default.
• W2897431342 cites W2580767461 @default.
• W2897431342 cites W2606869745 @default.
• W2897431342 cites W2663642413 @default.
• W2897431342 cites W2765821675 @default.
• W2897431342 cites W2769092492 @default.
• W2897431342 cites W2802101612 @default.
• W2897431342 doi "https://doi.org/10.1002/mdc3.12693" @default.
• W2897431342 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6335537" @default.
• W2897431342 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30746416" @default.
• W2897431342 hasPublicationYear "2018" @default.
• W2897431342 type Work @default.
• W2897431342 sameAs 2897431342 @default.
• W2897431342 citedByCount "18" @default.
• W2897431342 countsByYear W28974313422020 @default.
• W2897431342 countsByYear W28974313422021 @default.
• W2897431342 countsByYear W28974313422022 @default.
• W2897431342 countsByYear W28974313422023 @default.
• W2897431342 crossrefType "journal-article" @default.
• W2897431342 hasAuthorship W2897431342A5011987810 @default.
• W2897431342 hasAuthorship W2897431342A5014835875 @default.
• W2897431342 hasAuthorship W2897431342A5028499624 @default.
• W2897431342 hasAuthorship W2897431342A5034471018 @default.
• W2897431342 hasAuthorship W2897431342A5052212659 @default.
• W2897431342 hasAuthorship W2897431342A5052634729 @default.
• W2897431342 hasAuthorship W2897431342A5062771449 @default.
• W2897431342 hasAuthorship W2897431342A5076170457 @default.
• W2897431342 hasAuthorship W2897431342A5082455191 @default.
• W2897431342 hasAuthorship W2897431342A5086860589 @default.
• W2897431342 hasAuthorship W2897431342A5091163315 @default.
• W2897431342 hasBestOaLocation W28974313421 @default.
• W2897431342 hasConcept C126322002 @default.
• W2897431342 hasConcept C126838900 @default.
• W2897431342 hasConcept C142724271 @default.
• W2897431342 hasConcept C143409427 @default.
• W2897431342 hasConcept C146638467 @default.
• W2897431342 hasConcept C15744967 @default.
• W2897431342 hasConcept C169760540 @default.
• W2897431342 hasConcept C2776925932 @default.
• W2897431342 hasConcept C2777830160 @default.
• W2897431342 hasConcept C2778187257 @default.
• W2897431342 hasConcept C2778261627 @default.
• W2897431342 hasConcept C2778559928 @default.
• W2897431342 hasConcept C2779134260 @default.
• W2897431342 hasConcept C2779652256 @default.
• W2897431342 hasConcept C2779714222 @default.
• W2897431342 hasConcept C2779734285 @default.
• W2897431342 hasConcept C2780278869 @default.
• W2897431342 hasConcept C2780938664 @default.
• W2897431342 hasConcept C2781172350 @default.
• W2897431342 hasConcept C529278444 @default.
• W2897431342 hasConcept C71924100 @default.
• W2897431342 hasConceptScore W2897431342C126322002 @default.
• W2897431342 hasConceptScore W2897431342C126838900 @default.
• W2897431342 hasConceptScore W2897431342C142724271 @default.
• W2897431342 hasConceptScore W2897431342C143409427 @default.
• W2897431342 hasConceptScore W2897431342C146638467 @default.
• W2897431342 hasConceptScore W2897431342C15744967 @default.

• next