FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2001121310> ?p ?o ?g. }

• W2001121310 endingPage "75" @default.
• W2001121310 startingPage "67" @default.
• W2001121310 abstract "The 4H syndrome (hypomyelination, hypodontia, hypogonadotropic hypogonadism) is a newly recognized leukodystrophy. The classical form is characterized by the association of hypomyelination, abnormal dentition, and hypogonadotropic hypogonadism, but the recent identification of 2 genes responsible for the syndrome demonstrates that these 3 main characteristics can be variably combined among Pol-III (polymerase III)-related leukodystrophies. The pathophysiology of this group of diseases is still to be elucidated, and there are no neuropathologic descriptions of brain tissue. We report the clinical, neuroradiologic, and neuropathologic findings of a patient affected by 4H syndrome with confirmed POLR3A mutations. We found a marked loss of oligodendrocytes, varying in severity in different brain regions, and accompanied by severe loss of myelin, moderately severe loss of axons, and patchy perivascular regions of better preserved white matter. There was relatively mild white matter astrogliosis and microgliosis. A macrophage reaction involving viable normal-appearing oligodendroglia suggests the possibility of an immunologic process in this disorder. Cortical laminar astrogliosis and mineralization of Layers I and II in particular were present. Thus, despite the uniformly hypomyelinating pattern seen on magnetic resonance imaging, neuropathologic examination reveals a complex heterogeneous leukodystrophy with prominent neuroaxonal and glial involvement in this disorder." @default.
• W2001121310 created "2016-06-24" @default.
• W2001121310 creator A5001000588 @default.
• W2001121310 creator A5002738255 @default.
• W2001121310 creator A5004915384 @default.
• W2001121310 creator A5008619086 @default.
• W2001121310 creator A5013089390 @default.
• W2001121310 creator A5013942288 @default.
• W2001121310 creator A5020867146 @default.
• W2001121310 creator A5030222034 @default.
• W2001121310 creator A5055293662 @default.
• W2001121310 date "2013-01-01" @default.
• W2001121310 modified "2023-10-16" @default.
• W2001121310 title "More Than Hypomyelination in Pol-III Disorder" @default.
• W2001121310 cites W1495416156 @default.
• W2001121310 cites W1980913141 @default.
• W2001121310 cites W1996719014 @default.
• W2001121310 cites W2000832682 @default.
• W2001121310 cites W2007114922 @default.
• W2001121310 cites W2007477365 @default.
• W2001121310 cites W2009313724 @default.
• W2001121310 cites W2013517841 @default.
• W2001121310 cites W2018931766 @default.
• W2001121310 cites W2020847248 @default.
• W2001121310 cites W2021966775 @default.
• W2001121310 cites W2023456872 @default.
• W2001121310 cites W2024317507 @default.
• W2001121310 cites W2031627377 @default.
• W2001121310 cites W2036963968 @default.
• W2001121310 cites W2043462758 @default.
• W2001121310 cites W2060396017 @default.
• W2001121310 cites W2061887799 @default.
• W2001121310 cites W2073505231 @default.
• W2001121310 cites W2077195220 @default.
• W2001121310 cites W2077261567 @default.
• W2001121310 cites W2078532926 @default.
• W2001121310 cites W2078788608 @default.
• W2001121310 cites W2079013447 @default.
• W2001121310 cites W2080757130 @default.
• W2001121310 cites W2108583379 @default.
• W2001121310 cites W2116803339 @default.
• W2001121310 cites W2117691576 @default.
• W2001121310 cites W2119784192 @default.
• W2001121310 cites W2127513771 @default.
• W2001121310 cites W2152855058 @default.
• W2001121310 cites W2157328578 @default.
• W2001121310 cites W2162515680 @default.
• W2001121310 cites W2223900978 @default.
• W2001121310 doi "https://doi.org/10.1097/nen.0b013e31827c99d2" @default.
• W2001121310 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3797528" @default.
• W2001121310 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23242285" @default.
• W2001121310 hasPublicationYear "2013" @default.
• W2001121310 type Work @default.
• W2001121310 sameAs 2001121310 @default.
• W2001121310 citedByCount "26" @default.
• W2001121310 countsByYear W20011213102014 @default.
• W2001121310 countsByYear W20011213102015 @default.
• W2001121310 countsByYear W20011213102016 @default.
• W2001121310 countsByYear W20011213102017 @default.
• W2001121310 countsByYear W20011213102018 @default.
• W2001121310 countsByYear W20011213102019 @default.
• W2001121310 countsByYear W20011213102020 @default.
• W2001121310 countsByYear W20011213102021 @default.
• W2001121310 countsByYear W20011213102022 @default.
• W2001121310 countsByYear W20011213102023 @default.
• W2001121310 crossrefType "journal-article" @default.
• W2001121310 hasAuthorship W2001121310A5001000588 @default.
• W2001121310 hasAuthorship W2001121310A5002738255 @default.
• W2001121310 hasAuthorship W2001121310A5004915384 @default.
• W2001121310 hasAuthorship W2001121310A5008619086 @default.
• W2001121310 hasAuthorship W2001121310A5013089390 @default.
• W2001121310 hasAuthorship W2001121310A5013942288 @default.
• W2001121310 hasAuthorship W2001121310A5020867146 @default.
• W2001121310 hasAuthorship W2001121310A5030222034 @default.
• W2001121310 hasAuthorship W2001121310A5055293662 @default.
• W2001121310 hasBestOaLocation W20011213101 @default.
• W2001121310 hasConcept C126838900 @default.
• W2001121310 hasConcept C134018914 @default.
• W2001121310 hasConcept C142724271 @default.
• W2001121310 hasConcept C143409427 @default.
• W2001121310 hasConcept C2776100374 @default.
• W2001121310 hasConcept C2778609137 @default.
• W2001121310 hasConcept C2779134260 @default.
• W2001121310 hasConcept C2779965356 @default.
• W2001121310 hasConcept C2781192897 @default.
• W2001121310 hasConcept C529278444 @default.
• W2001121310 hasConcept C71924100 @default.
• W2001121310 hasConceptScore W2001121310C126838900 @default.
• W2001121310 hasConceptScore W2001121310C134018914 @default.
• W2001121310 hasConceptScore W2001121310C142724271 @default.
• W2001121310 hasConceptScore W2001121310C143409427 @default.
• W2001121310 hasConceptScore W2001121310C2776100374 @default.
• W2001121310 hasConceptScore W2001121310C2778609137 @default.
• W2001121310 hasConceptScore W2001121310C2779134260 @default.
• W2001121310 hasConceptScore W2001121310C2779965356 @default.
• W2001121310 hasConceptScore W2001121310C2781192897 @default.
• W2001121310 hasConceptScore W2001121310C529278444 @default.
• W2001121310 hasConceptScore W2001121310C71924100 @default.

• next