FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2339214709> ?p ?o ?g. }

• W2339214709 endingPage "1152" @default.
• W2339214709 startingPage "1137" @default.
• W2339214709 abstract "We report clinical, neuropathologic and molecular genetic data from an individual affected by a familial Alzheimer disease (AD) variant. The proband had an onset of dementia at age 29 followed by generalized seizures a year later. He died at age 40. Neuropathologically, he had severe brain atrophy and characteristic histopathologic lesions of AD. Three additional neuropathologic features need to be emphasized: 1) severe deposition of Abeta in the form of diffuse deposits in the cerebral and cerebellar cortices, 2) numerous Abeta deposits in the subcortical white matter and in the centrum semiovale, and 3) numerous ectopic neurons, often containing tau-immunopositive neurofibrillary tangles, in the white maner of the frontal and temporal lobes. A molecular genetic analysis of DNA extracted from brain tissue of the proband revealed a S169L mutation in the Presenilin 1 (PSEN1) gene. The importance of this case lies in the presence of ectopic neurons in the white matter, early-onset seizures, and a PSEN1 mutation. We hypothesize that the PSEN1 mutation may have a causal relationship with an abnormality in neuronal development." @default.
• W2339214709 created "2016-06-24" @default.
• W2339214709 creator A5004166000 @default.
• W2339214709 creator A5004565067 @default.
• W2339214709 creator A5012334998 @default.
• W2339214709 creator A5024666606 @default.
• W2339214709 creator A5025292977 @default.
• W2339214709 creator A5028700274 @default.
• W2339214709 creator A5035618662 @default.
• W2339214709 creator A5040498388 @default.
• W2339214709 creator A5047929315 @default.
• W2339214709 creator A5062574795 @default.
• W2339214709 creator A5071364728 @default.
• W2339214709 creator A5081622324 @default.
• W2339214709 date "2001-12-01" @default.
• W2339214709 modified "2023-09-22" @default.
• W2339214709 title "Ectopic White Matter Neurons, a Developmental Abnormality That May Be Caused by the<i>PSEN1</i>S169L Mutation in a Case of Familial AD with Myoclonus and Seizures" @default.
• W2339214709 cites W1488427743 @default.
• W2339214709 cites W1549191090 @default.
• W2339214709 cites W1592033967 @default.
• W2339214709 cites W1600209203 @default.
• W2339214709 cites W1605023308 @default.
• W2339214709 cites W1638712919 @default.
• W2339214709 cites W1655397332 @default.
• W2339214709 cites W1964108234 @default.
• W2339214709 cites W1966193366 @default.
• W2339214709 cites W1969640311 @default.
• W2339214709 cites W1973421354 @default.
• W2339214709 cites W1978272692 @default.
• W2339214709 cites W1979004999 @default.
• W2339214709 cites W1979432217 @default.
• W2339214709 cites W1980433009 @default.
• W2339214709 cites W1982401220 @default.
• W2339214709 cites W1984059331 @default.
• W2339214709 cites W1985816664 @default.
• W2339214709 cites W1990379890 @default.
• W2339214709 cites W1995434077 @default.
• W2339214709 cites W1998451680 @default.
• W2339214709 cites W2012934080 @default.
• W2339214709 cites W2019399041 @default.
• W2339214709 cites W2024363942 @default.
• W2339214709 cites W2025911651 @default.
• W2339214709 cites W2041689158 @default.
• W2339214709 cites W2042735169 @default.
• W2339214709 cites W2052086914 @default.
• W2339214709 cites W2052742260 @default.
• W2339214709 cites W2053270424 @default.
• W2339214709 cites W2060258845 @default.
• W2339214709 cites W2060803759 @default.
• W2339214709 cites W2061470026 @default.
• W2339214709 cites W2062772621 @default.
• W2339214709 cites W2065663907 @default.
• W2339214709 cites W2067675815 @default.
• W2339214709 cites W2074745197 @default.
• W2339214709 cites W2075761659 @default.
• W2339214709 cites W2086523105 @default.
• W2339214709 cites W2105458646 @default.
• W2339214709 cites W2108177092 @default.
• W2339214709 cites W2108386133 @default.
• W2339214709 cites W2114107856 @default.
• W2339214709 cites W2128931247 @default.
• W2339214709 cites W2130435962 @default.
• W2339214709 cites W2142429430 @default.
• W2339214709 cites W2142549451 @default.
• W2339214709 cites W2145282015 @default.
• W2339214709 cites W2171492874 @default.
• W2339214709 cites W2725718031 @default.
• W2339214709 doi "https://doi.org/10.1093/jnen/60.12.1137" @default.
• W2339214709 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11764087" @default.
• W2339214709 hasPublicationYear "2001" @default.
• W2339214709 type Work @default.
• W2339214709 sameAs 2339214709 @default.
• W2339214709 citedByCount "47" @default.
• W2339214709 countsByYear W23392147092012 @default.
• W2339214709 countsByYear W23392147092013 @default.
• W2339214709 countsByYear W23392147092014 @default.
• W2339214709 countsByYear W23392147092015 @default.
• W2339214709 countsByYear W23392147092016 @default.
• W2339214709 countsByYear W23392147092018 @default.
• W2339214709 countsByYear W23392147092019 @default.
• W2339214709 countsByYear W23392147092020 @default.
• W2339214709 countsByYear W23392147092022 @default.
• W2339214709 crossrefType "journal-article" @default.
• W2339214709 hasAuthorship W2339214709A5004166000 @default.
• W2339214709 hasAuthorship W2339214709A5004565067 @default.
• W2339214709 hasAuthorship W2339214709A5012334998 @default.
• W2339214709 hasAuthorship W2339214709A5024666606 @default.
• W2339214709 hasAuthorship W2339214709A5025292977 @default.
• W2339214709 hasAuthorship W2339214709A5028700274 @default.
• W2339214709 hasAuthorship W2339214709A5035618662 @default.
• W2339214709 hasAuthorship W2339214709A5040498388 @default.
• W2339214709 hasAuthorship W2339214709A5047929315 @default.
• W2339214709 hasAuthorship W2339214709A5062574795 @default.
• W2339214709 hasAuthorship W2339214709A5071364728 @default.
• W2339214709 hasAuthorship W2339214709A5081622324 @default.
• W2339214709 hasBestOaLocation W23392147091 @default.
• W2339214709 hasConcept C104317684 @default.
• W2339214709 hasConcept C118552586 @default.

• next