FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1990854708> ?p ?o ?g. }

• W1990854708 endingPage "288" @default.
• W1990854708 startingPage "259" @default.
• W1990854708 abstract "Autopsy studies in 8 girls with the Rett syndrome dying between 4 and 15 years showed: (1) Diffuse cerebral atrophy/micrencephaly, with a decrease in brain weight by 13.8 to 33.8 % of age-matched controls, apparently related to the duration of the disorder; (2) Mild, but inconsistent diffuse cortical atrophy without developmental disorders apart from occasional microdysgenesis (three cases), but increased amounts of neuronal lipofuscin, and occasional mild astrocytic gliosis; (3) Mild, but inconsistent spongy changes in cerebral and cerebellar white matter, optic nerve (two cases), and myelinated fascicles of the brainstem tegmentum, without signs of dys- or demyelination, and apparently different from the spongy myelinopathy common to aminoacidopathies; (4) Mest conspicuous was an underpigmentation of the substantia nigra which contained many fewer well-pigmented neurons for age (53–73 %), and fewer pigmented granules per neuron, while the total number of nigral neurons and the triphasic substructure of neuromelanin were normal far age. No pathologic changes were seen in locus coeruleus, nucleus basalis of Meynert, and nucleus dorsalis raphe; (5) Electron microscopy of autopsy material from an 11-year-old girl showed increased amounts of neuronal lipefuscin without signs of a storage disorder. Reactive and degenerating axons in the caudate nucleus were pessibly related to the nigral changes, suggesting some dysfunction of the dopaminergic nigro-striatal system, while the synaptic organization of the neostriatum appeared unaffected. (6) Peripheral nerve from a patient dying in advanced stage showed increased numbers of unmyelinated (regenerated?) axons, with almost no demyelination and few remyelinated axons, suggesting axonal degeneration rather than hypomyelination, but exogenous factors (malnutrition) cannot be excluded. The pathogenetic mechanisms of the morphologic brain lesions and their relations to clinical and neurochemical findings in Rett syndrome are unknown and deserve further intensive investigations." @default.
• W1990854708 created "2016-06-24" @default.
• W1990854708 creator A5042083351 @default.
• W1990854708 creator A5057547669 @default.
• W1990854708 date "1986-01-01" @default.
• W1990854708 modified "2023-10-16" @default.
• W1990854708 title "Neuropathology of rett syndrome" @default.
• W1990854708 cites W152287780 @default.
• W1990854708 cites W1576528328 @default.
• W1990854708 cites W1602323138 @default.
• W1990854708 cites W1965948714 @default.
• W1990854708 cites W1990105764 @default.
• W1990854708 cites W1992266866 @default.
• W1990854708 cites W1996916011 @default.
• W1990854708 cites W1998036639 @default.
• W1990854708 cites W2003003768 @default.
• W1990854708 cites W2007986024 @default.
• W1990854708 cites W2008305712 @default.
• W1990854708 cites W2008596387 @default.
• W1990854708 cites W2018258320 @default.
• W1990854708 cites W2021039283 @default.
• W1990854708 cites W2024199392 @default.
• W1990854708 cites W2033885622 @default.
• W1990854708 cites W2035449971 @default.
• W1990854708 cites W2037821936 @default.
• W1990854708 cites W2039846510 @default.
• W1990854708 cites W2040512199 @default.
• W1990854708 cites W2045430542 @default.
• W1990854708 cites W2055630428 @default.
• W1990854708 cites W2063840478 @default.
• W1990854708 cites W2069073603 @default.
• W1990854708 cites W2069288638 @default.
• W1990854708 cites W2074077715 @default.
• W1990854708 cites W2085952317 @default.
• W1990854708 cites W2090018823 @default.
• W1990854708 cites W2105458646 @default.
• W1990854708 cites W2124182334 @default.
• W1990854708 cites W2138281588 @default.
• W1990854708 cites W2140392986 @default.
• W1990854708 cites W2171511728 @default.
• W1990854708 cites W2315092234 @default.
• W1990854708 cites W2328493599 @default.
• W1990854708 cites W2335562796 @default.
• W1990854708 cites W2338301316 @default.
• W1990854708 cites W4211041696 @default.
• W1990854708 cites W4237416966 @default.
• W1990854708 doi "https://doi.org/10.1002/ajmg.1320250528" @default.
• W1990854708 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/3087188" @default.
• W1990854708 hasPublicationYear "1986" @default.
• W1990854708 type Work @default.
• W1990854708 sameAs 1990854708 @default.
• W1990854708 citedByCount "93" @default.
• W1990854708 countsByYear W19908547082012 @default.
• W1990854708 countsByYear W19908547082014 @default.
• W1990854708 countsByYear W19908547082015 @default.
• W1990854708 countsByYear W19908547082017 @default.
• W1990854708 countsByYear W19908547082018 @default.
• W1990854708 countsByYear W19908547082019 @default.
• W1990854708 countsByYear W19908547082020 @default.
• W1990854708 countsByYear W19908547082021 @default.
• W1990854708 countsByYear W19908547082022 @default.
• W1990854708 countsByYear W19908547082023 @default.
• W1990854708 crossrefType "journal-article" @default.
• W1990854708 hasAuthorship W1990854708A5042083351 @default.
• W1990854708 hasAuthorship W1990854708A5057547669 @default.
• W1990854708 hasConcept C104966671 @default.
• W1990854708 hasConcept C105702510 @default.
• W1990854708 hasConcept C126838900 @default.
• W1990854708 hasConcept C142724271 @default.
• W1990854708 hasConcept C143409427 @default.
• W1990854708 hasConcept C169760540 @default.
• W1990854708 hasConcept C186198217 @default.
• W1990854708 hasConcept C24566897 @default.
• W1990854708 hasConcept C2777682930 @default.
• W1990854708 hasConcept C2777830160 @default.
• W1990854708 hasConcept C2778205193 @default.
• W1990854708 hasConcept C2778468602 @default.
• W1990854708 hasConcept C2779134260 @default.
• W1990854708 hasConcept C2779384463 @default.
• W1990854708 hasConcept C2779652256 @default.
• W1990854708 hasConcept C2779734285 @default.
• W1990854708 hasConcept C2780130745 @default.
• W1990854708 hasConcept C2780723820 @default.
• W1990854708 hasConcept C2780938664 @default.
• W1990854708 hasConcept C2781172350 @default.
• W1990854708 hasConcept C2781192897 @default.
• W1990854708 hasConcept C529278444 @default.
• W1990854708 hasConcept C551621295 @default.
• W1990854708 hasConcept C552161191 @default.
• W1990854708 hasConcept C71924100 @default.
• W1990854708 hasConcept C86803240 @default.
• W1990854708 hasConceptScore W1990854708C104966671 @default.
• W1990854708 hasConceptScore W1990854708C105702510 @default.
• W1990854708 hasConceptScore W1990854708C126838900 @default.
• W1990854708 hasConceptScore W1990854708C142724271 @default.
• W1990854708 hasConceptScore W1990854708C143409427 @default.
• W1990854708 hasConceptScore W1990854708C169760540 @default.
• W1990854708 hasConceptScore W1990854708C186198217 @default.

• next