Matches in SemOpenAlex for { <https://semopenalex.org/work/W2034694328> ?p ?o ?g. }
Showing items 1 to 72 of
72
with 100 items per page.
- W2034694328 endingPage "222" @default.
- W2034694328 startingPage "221" @default.
- W2034694328 abstract "Pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome, is a rare autosomal recessive disorder characterized by extrapyramidal dysfunction as demonstrated by dystonia, rigidity, and choreoathetosis. Iron deposition in conjunction with destruction of the globus pallidus gives rise to the characteristic eye-of-the-tiger sign in MRI. It has been postulated that pantothenate kinase 2 mutations underlying all cases of classic Hallervorden-Spatz syndrome are always associated with the eye-of-the-tiger sign. Here, we report a patient with classic Hallervorden-Spatz syndrome and a homozygous pantothenate kinase 2 mutation in whom the initially present eye-of-the-tiger sign vanished during the course of the disease. Thus, the alleged one-to-one correlation between the eye-of-the-tiger sign and the presence of pantothenate kinase 2 mutation does not hold true over the course of the disease in PKAN." @default.
- W2034694328 created "2016-06-24" @default.
- W2034694328 creator A5017880422 @default.
- W2034694328 creator A5039704214 @default.
- W2034694328 creator A5059837276 @default.
- W2034694328 creator A5078023911 @default.
- W2034694328 creator A5083006483 @default.
- W2034694328 date "2005-06-01" @default.
- W2034694328 modified "2023-09-25" @default.
- W2034694328 title "The Eye-of-the-Tiger Sign is not a Reliable Disease Marker for Hallervorden-Spatz Syndrome" @default.
- W2034694328 doi "https://doi.org/10.1055/s-2005-865714" @default.
- W2034694328 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15944911" @default.
- W2034694328 hasPublicationYear "2005" @default.
- W2034694328 type Work @default.
- W2034694328 sameAs 2034694328 @default.
- W2034694328 citedByCount "61" @default.
- W2034694328 countsByYear W20346943282012 @default.
- W2034694328 countsByYear W20346943282013 @default.
- W2034694328 countsByYear W20346943282014 @default.
- W2034694328 countsByYear W20346943282015 @default.
- W2034694328 countsByYear W20346943282016 @default.
- W2034694328 countsByYear W20346943282017 @default.
- W2034694328 countsByYear W20346943282018 @default.
- W2034694328 countsByYear W20346943282019 @default.
- W2034694328 countsByYear W20346943282020 @default.
- W2034694328 countsByYear W20346943282021 @default.
- W2034694328 crossrefType "journal-article" @default.
- W2034694328 hasAuthorship W2034694328A5017880422 @default.
- W2034694328 hasAuthorship W2034694328A5039704214 @default.
- W2034694328 hasAuthorship W2034694328A5059837276 @default.
- W2034694328 hasAuthorship W2034694328A5078023911 @default.
- W2034694328 hasAuthorship W2034694328A5083006483 @default.
- W2034694328 hasConcept C105702510 @default.
- W2034694328 hasConcept C118552586 @default.
- W2034694328 hasConcept C142724271 @default.
- W2034694328 hasConcept C2776925932 @default.
- W2034694328 hasConcept C2778559928 @default.
- W2034694328 hasConcept C2779134260 @default.
- W2034694328 hasConcept C2779812711 @default.
- W2034694328 hasConcept C2781196186 @default.
- W2034694328 hasConcept C71924100 @default.
- W2034694328 hasConceptScore W2034694328C105702510 @default.
- W2034694328 hasConceptScore W2034694328C118552586 @default.
- W2034694328 hasConceptScore W2034694328C142724271 @default.
- W2034694328 hasConceptScore W2034694328C2776925932 @default.
- W2034694328 hasConceptScore W2034694328C2778559928 @default.
- W2034694328 hasConceptScore W2034694328C2779134260 @default.
- W2034694328 hasConceptScore W2034694328C2779812711 @default.
- W2034694328 hasConceptScore W2034694328C2781196186 @default.
- W2034694328 hasConceptScore W2034694328C71924100 @default.
- W2034694328 hasIssue "3" @default.
- W2034694328 hasLocation W20346943281 @default.
- W2034694328 hasLocation W20346943282 @default.
- W2034694328 hasOpenAccess W2034694328 @default.
- W2034694328 hasPrimaryLocation W20346943281 @default.
- W2034694328 hasRelatedWork W1587735356 @default.
- W2034694328 hasRelatedWork W1903544543 @default.
- W2034694328 hasRelatedWork W1982354271 @default.
- W2034694328 hasRelatedWork W2314914856 @default.
- W2034694328 hasRelatedWork W2524179745 @default.
- W2034694328 hasRelatedWork W2526465670 @default.
- W2034694328 hasRelatedWork W2613377457 @default.
- W2034694328 hasRelatedWork W2908559929 @default.
- W2034694328 hasRelatedWork W2914783570 @default.
- W2034694328 hasRelatedWork W2991398203 @default.
- W2034694328 hasVolume "36" @default.
- W2034694328 isParatext "false" @default.
- W2034694328 isRetracted "false" @default.
- W2034694328 magId "2034694328" @default.
- W2034694328 workType "article" @default.