FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2917580337> ?p ?o ?g. }

• W2917580337 endingPage "494" @default.
• W2917580337 startingPage "489" @default.
• W2917580337 abstract "Aicardi-Goutières syndrome (AGS) is a rare genetic leukoencephalopathy related to inappropriate activation of type I interferon. Neuroradiological findings are typically characterized by white matter abnormalities, cerebral atrophy and cerebral calcification. The disease usually manifests itself during the first year of life in the form of an initial “encephalitic-like” phase followed by a chronic phase of stabilization of the neurological signs. Recently new therapeutic strategies have been proposed aimed at blocking the abnormal activation of the interferon cascade. We reviewed clinical and MRI findings in three young RNASEH2B-mutated patients studied with serial CT and MRI studies. All three patients presented clinical and MRI features consistent with AGS but, very unexpectedly, an improving neuroradiological course. In patient 1, the MRI improvement was noted some months after treatment with high-dose steroid and IVIg treatment; in patients 2 and 3 it occurred spontaneously. Patient 2 did not show cerebral calcification on CT images. Our series highlights the possibility of spontaneous neuroradiological improvement in AGS2 patients, as well as the possibility of absence of cerebral calcification in AGS. The study underlines the need for extreme caution when using MRI as an outcome measure in therapeutic trials specific for this disease. MRI follow-up studies in larger series are necessary to describe the natural course of AGS." @default.
• W2917580337 created "2019-03-02" @default.
• W2917580337 creator A5001734076 @default.
• W2917580337 creator A5006175874 @default.
• W2917580337 creator A5009347088 @default.
• W2917580337 creator A5014988937 @default.
• W2917580337 creator A5027903512 @default.
• W2917580337 creator A5030222034 @default.
• W2917580337 creator A5062745061 @default.
• W2917580337 creator A5075045812 @default.
• W2917580337 creator A5076284962 @default.
• W2917580337 creator A5078119778 @default.
• W2917580337 creator A5085164050 @default.
• W2917580337 creator A5086860589 @default.
• W2917580337 creator A5091163315 @default.
• W2917580337 date "2019-04-01" @default.
• W2917580337 modified "2023-09-27" @default.
• W2917580337 title "Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications" @default.
• W2917580337 cites W1669365448 @default.
• W2917580337 cites W1980705501 @default.
• W2917580337 cites W1982171927 @default.
• W2917580337 cites W1982778128 @default.
• W2917580337 cites W1987484835 @default.
• W2917580337 cites W1997125513 @default.
• W2917580337 cites W2004188666 @default.
• W2917580337 cites W2030785379 @default.
• W2917580337 cites W2053317161 @default.
• W2917580337 cites W2063675796 @default.
• W2917580337 cites W2081425157 @default.
• W2917580337 cites W2116852197 @default.
• W2917580337 cites W2124075611 @default.
• W2917580337 cites W2124292015 @default.
• W2917580337 cites W2137880815 @default.
• W2917580337 cites W2146522590 @default.
• W2917580337 cites W2155191177 @default.
• W2917580337 cites W2168015623 @default.
• W2917580337 cites W2209597790 @default.
• W2917580337 cites W2314275141 @default.
• W2917580337 cites W2322003717 @default.
• W2917580337 cites W2522784175 @default.
• W2917580337 cites W2548054536 @default.
• W2917580337 cites W2606138828 @default.
• W2917580337 cites W2741043350 @default.
• W2917580337 cites W2770281423 @default.
• W2917580337 cites W2803713375 @default.
• W2917580337 cites W2886177318 @default.
• W2917580337 doi "https://doi.org/10.1016/j.ymgme.2019.02.006" @default.
• W2917580337 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30826161" @default.
• W2917580337 hasPublicationYear "2019" @default.
• W2917580337 type Work @default.
• W2917580337 sameAs 2917580337 @default.
• W2917580337 citedByCount "10" @default.
• W2917580337 countsByYear W29175803372020 @default.
• W2917580337 countsByYear W29175803372021 @default.
• W2917580337 countsByYear W29175803372022 @default.
• W2917580337 countsByYear W29175803372023 @default.
• W2917580337 crossrefType "journal-article" @default.
• W2917580337 hasAuthorship W2917580337A5001734076 @default.
• W2917580337 hasAuthorship W2917580337A5006175874 @default.
• W2917580337 hasAuthorship W2917580337A5009347088 @default.
• W2917580337 hasAuthorship W2917580337A5014988937 @default.
• W2917580337 hasAuthorship W2917580337A5027903512 @default.
• W2917580337 hasAuthorship W2917580337A5030222034 @default.
• W2917580337 hasAuthorship W2917580337A5062745061 @default.
• W2917580337 hasAuthorship W2917580337A5075045812 @default.
• W2917580337 hasAuthorship W2917580337A5076284962 @default.
• W2917580337 hasAuthorship W2917580337A5078119778 @default.
• W2917580337 hasAuthorship W2917580337A5085164050 @default.
• W2917580337 hasAuthorship W2917580337A5086860589 @default.
• W2917580337 hasAuthorship W2917580337A5091163315 @default.
• W2917580337 hasConcept C126838900 @default.
• W2917580337 hasConcept C142724271 @default.
• W2917580337 hasConcept C143409427 @default.
• W2917580337 hasConcept C2778583010 @default.
• W2917580337 hasConcept C2779134260 @default.
• W2917580337 hasConcept C2779717322 @default.
• W2917580337 hasConcept C2780309369 @default.
• W2917580337 hasConcept C71924100 @default.
• W2917580337 hasConceptScore W2917580337C126838900 @default.
• W2917580337 hasConceptScore W2917580337C142724271 @default.
• W2917580337 hasConceptScore W2917580337C143409427 @default.
• W2917580337 hasConceptScore W2917580337C2778583010 @default.
• W2917580337 hasConceptScore W2917580337C2779134260 @default.
• W2917580337 hasConceptScore W2917580337C2779717322 @default.
• W2917580337 hasConceptScore W2917580337C2780309369 @default.
• W2917580337 hasConceptScore W2917580337C71924100 @default.
• W2917580337 hasIssue "4" @default.
• W2917580337 hasLocation W29175803371 @default.
• W2917580337 hasLocation W29175803372 @default.
• W2917580337 hasOpenAccess W2917580337 @default.
• W2917580337 hasPrimaryLocation W29175803371 @default.
• W2917580337 hasRelatedWork W2009136415 @default.
• W2917580337 hasRelatedWork W2022665563 @default.
• W2917580337 hasRelatedWork W2028633601 @default.
• W2917580337 hasRelatedWork W2049214470 @default.
• W2917580337 hasRelatedWork W2049462498 @default.
• W2917580337 hasRelatedWork W2053652313 @default.
• W2917580337 hasRelatedWork W2113342665 @default.

• next