FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2019924851> ?p ?o ?g. }

• W2019924851 endingPage "176" @default.
• W2019924851 startingPage "172" @default.
• W2019924851 abstract "Pantothenate kinase-associated neurodegeneration (PKAN), formerly known as Hallervorden-Spatz syndrome (HSS), is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in the brain. Mutations in the pantothenate kinase 2 (PANK2) gene are known to be responsible for PKAN. Several studies have revealed correlations between clinical phenotypes and particular PANK2 mutations. The adult-onset slowly progressive type of PKAN with PANK2 mutations is very rare. In this report, we describe siblings with the adult-onset slowly progressive type of PKAN with a novel mutation, Ile346Ser, in PANK2. The siblings had the same mutation in PANK2 and had common clinical signs such as misalignment of teeth, a high arched palate, hollow feet, a slight cognitive decline, and an apparent executive dysfunction, although they showed different patterns of movement disorders. Thus, even if PKAN patients have identical mutations, it is likely that they will present with different types of movement disorders. Brain perfusion single photon emission computed tomography in both patients showed decreased regional cerebral blood flow in the bilateral frontoparietal lobes, the globus pallidus, the striatum, and around the ventriculus quartus. Cardiac uptake of [(123)I] meta-iodobenzylguanidine was normal in both patients. Analysis of genotype-phenotype correlations and the elucidation of mutational effects on pantothenate kinase 2 function, expression, and structure are important for understanding the mechanisms of PKAN." @default.
• W2019924851 created "2016-06-24" @default.
• W2019924851 creator A5024870998 @default.
• W2019924851 creator A5028573986 @default.
• W2019924851 creator A5033586162 @default.
• W2019924851 creator A5034923276 @default.
• W2019924851 creator A5058738648 @default.
• W2019924851 creator A5079090371 @default.
• W2019924851 creator A5081069755 @default.
• W2019924851 creator A5085467135 @default.
• W2019924851 creator A5087438100 @default.
• W2019924851 creator A5090901552 @default.
• W2019924851 date "2010-03-01" @default.
• W2019924851 modified "2023-10-10" @default.
• W2019924851 title "Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: Clinical features and 99mTc-ECD brain perfusion SPECT findings" @default.
• W2019924851 cites W1518778430 @default.
• W2019924851 cites W1546197199 @default.
• W2019924851 cites W1972019598 @default.
• W2019924851 cites W1974804543 @default.
• W2019924851 cites W1978583930 @default.
• W2019924851 cites W1980827933 @default.
• W2019924851 cites W1991777988 @default.
• W2019924851 cites W2001037700 @default.
• W2019924851 cites W2003789279 @default.
• W2019924851 cites W2004685138 @default.
• W2019924851 cites W2034164574 @default.
• W2019924851 cites W2034694328 @default.
• W2019924851 cites W2039038118 @default.
• W2019924851 cites W2045251590 @default.
• W2019924851 cites W2057634901 @default.
• W2019924851 cites W2076778958 @default.
• W2019924851 cites W2076986139 @default.
• W2019924851 cites W2077244685 @default.
• W2019924851 cites W2081826157 @default.
• W2019924851 cites W2086824920 @default.
• W2019924851 cites W2088254132 @default.
• W2019924851 cites W2091893882 @default.
• W2019924851 cites W2102239505 @default.
• W2019924851 cites W2105736168 @default.
• W2019924851 cites W2148521511 @default.
• W2019924851 cites W2156730660 @default.
• W2019924851 cites W2165732672 @default.
• W2019924851 cites W2170051570 @default.
• W2019924851 cites W4321375480 @default.
• W2019924851 doi "https://doi.org/10.1016/j.jns.2009.11.008" @default.
• W2019924851 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20006850" @default.
• W2019924851 hasPublicationYear "2010" @default.
• W2019924851 type Work @default.
• W2019924851 sameAs 2019924851 @default.
• W2019924851 citedByCount "17" @default.
• W2019924851 countsByYear W20199248512012 @default.
• W2019924851 countsByYear W20199248512013 @default.
• W2019924851 countsByYear W20199248512014 @default.
• W2019924851 countsByYear W20199248512015 @default.
• W2019924851 countsByYear W20199248512017 @default.
• W2019924851 countsByYear W20199248512019 @default.
• W2019924851 countsByYear W20199248512020 @default.
• W2019924851 crossrefType "journal-article" @default.
• W2019924851 hasAuthorship W2019924851A5024870998 @default.
• W2019924851 hasAuthorship W2019924851A5028573986 @default.
• W2019924851 hasAuthorship W2019924851A5033586162 @default.
• W2019924851 hasAuthorship W2019924851A5034923276 @default.
• W2019924851 hasAuthorship W2019924851A5058738648 @default.
• W2019924851 hasAuthorship W2019924851A5079090371 @default.
• W2019924851 hasAuthorship W2019924851A5081069755 @default.
• W2019924851 hasAuthorship W2019924851A5085467135 @default.
• W2019924851 hasAuthorship W2019924851A5087438100 @default.
• W2019924851 hasAuthorship W2019924851A5090901552 @default.
• W2019924851 hasConcept C104317684 @default.
• W2019924851 hasConcept C127716648 @default.
• W2019924851 hasConcept C142724271 @default.
• W2019924851 hasConcept C169760540 @default.
• W2019924851 hasConcept C2776925932 @default.
• W2019924851 hasConcept C2778187257 @default.
• W2019924851 hasConcept C2778261627 @default.
• W2019924851 hasConcept C2779134260 @default.
• W2019924851 hasConcept C2780062018 @default.
• W2019924851 hasConcept C2780278869 @default.
• W2019924851 hasConcept C513476851 @default.
• W2019924851 hasConcept C529278444 @default.
• W2019924851 hasConcept C54355233 @default.
• W2019924851 hasConcept C71924100 @default.
• W2019924851 hasConcept C86803240 @default.
• W2019924851 hasConceptScore W2019924851C104317684 @default.
• W2019924851 hasConceptScore W2019924851C127716648 @default.
• W2019924851 hasConceptScore W2019924851C142724271 @default.
• W2019924851 hasConceptScore W2019924851C169760540 @default.
• W2019924851 hasConceptScore W2019924851C2776925932 @default.
• W2019924851 hasConceptScore W2019924851C2778187257 @default.
• W2019924851 hasConceptScore W2019924851C2778261627 @default.
• W2019924851 hasConceptScore W2019924851C2779134260 @default.
• W2019924851 hasConceptScore W2019924851C2780062018 @default.
• W2019924851 hasConceptScore W2019924851C2780278869 @default.
• W2019924851 hasConceptScore W2019924851C513476851 @default.
• W2019924851 hasConceptScore W2019924851C529278444 @default.
• W2019924851 hasConceptScore W2019924851C54355233 @default.
• W2019924851 hasConceptScore W2019924851C71924100 @default.
• W2019924851 hasConceptScore W2019924851C86803240 @default.

• next