Matches in SemOpenAlex for { <https://semopenalex.org/work/W2044543328> ?p ?o ?g. }
Showing items 1 to 100 of
100
with 100 items per page.
- W2044543328 endingPage "652" @default.
- W2044543328 startingPage "646" @default.
- W2044543328 abstract "Megalencephalic leukoencephalopathy with subcortical cysts is one of the newly described white-matter disorders for which recognition has been brought about by advances in imaging technology. The essential diagnostic features include megalencephaly noted in infancy, motor disability in the form of spasticity, ataxia, occasional seizures, mild cognitive decline, and slow progression. Magnetic resonance imaging (MRI) shows bilateral extensive white-matter changes with cysts in the temporal regions. Based on the clinical and MRI features, megalencephalic leukoencephalopathy with subcortical cysts can be distinguished from other conditions (ie, Alexander's disease, Canavan's disease, glutaricaciduria type I) that present in infancy with megalencephaly. Megalencephalic leukoencephalopathy with subcortical cysts is an autosomal recessive disorder, and mutations in the MLC1 gene have now been shown to cause this condition. Several genotypic and phenotypic variations have been described. In India, megalencephalic leukoencephalopathy with subcortical cysts occurs predominantly in the Agarwal community. A common mutation in the MLC1 gene has been seen in 31 Agarwal patients, which suggests a founder effect." @default.
- W2044543328 created "2016-06-24" @default.
- W2044543328 creator A5028369459 @default.
- W2044543328 creator A5051008926 @default.
- W2044543328 creator A5057012573 @default.
- W2044543328 date "2003-09-01" @default.
- W2044543328 modified "2023-10-16" @default.
- W2044543328 title "Megalencephalic Leukoencephalopathy With Subcortical Cysts" @default.
- W2044543328 cites W1485018547 @default.
- W2044543328 cites W1539131248 @default.
- W2044543328 cites W1584602900 @default.
- W2044543328 cites W1597223461 @default.
- W2044543328 cites W1986767210 @default.
- W2044543328 cites W1991084329 @default.
- W2044543328 cites W2009814503 @default.
- W2044543328 cites W2011199674 @default.
- W2044543328 cites W2016681907 @default.
- W2044543328 cites W2032011087 @default.
- W2044543328 cites W2039290509 @default.
- W2044543328 cites W2040913654 @default.
- W2044543328 cites W2059232664 @default.
- W2044543328 cites W2068829489 @default.
- W2044543328 cites W2081582531 @default.
- W2044543328 cites W2090618445 @default.
- W2044543328 cites W2107971418 @default.
- W2044543328 cites W2116905631 @default.
- W2044543328 cites W2158944381 @default.
- W2044543328 cites W2027478001 @default.
- W2044543328 doi "https://doi.org/10.1177/08830738030180091201" @default.
- W2044543328 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/14572144" @default.
- W2044543328 hasPublicationYear "2003" @default.
- W2044543328 type Work @default.
- W2044543328 sameAs 2044543328 @default.
- W2044543328 citedByCount "63" @default.
- W2044543328 countsByYear W20445433282012 @default.
- W2044543328 countsByYear W20445433282013 @default.
- W2044543328 countsByYear W20445433282014 @default.
- W2044543328 countsByYear W20445433282015 @default.
- W2044543328 countsByYear W20445433282016 @default.
- W2044543328 countsByYear W20445433282017 @default.
- W2044543328 countsByYear W20445433282018 @default.
- W2044543328 countsByYear W20445433282019 @default.
- W2044543328 countsByYear W20445433282020 @default.
- W2044543328 countsByYear W20445433282021 @default.
- W2044543328 countsByYear W20445433282022 @default.
- W2044543328 countsByYear W20445433282023 @default.
- W2044543328 crossrefType "journal-article" @default.
- W2044543328 hasAuthorship W2044543328A5028369459 @default.
- W2044543328 hasAuthorship W2044543328A5051008926 @default.
- W2044543328 hasAuthorship W2044543328A5057012573 @default.
- W2044543328 hasConcept C126838900 @default.
- W2044543328 hasConcept C142724271 @default.
- W2044543328 hasConcept C143409427 @default.
- W2044543328 hasConcept C15744967 @default.
- W2044543328 hasConcept C169760540 @default.
- W2044543328 hasConcept C2776100374 @default.
- W2044543328 hasConcept C2778234038 @default.
- W2044543328 hasConcept C2778583010 @default.
- W2044543328 hasConcept C2779012798 @default.
- W2044543328 hasConcept C2779134260 @default.
- W2044543328 hasConcept C2780906641 @default.
- W2044543328 hasConcept C2781192897 @default.
- W2044543328 hasConcept C71924100 @default.
- W2044543328 hasConcept C99508421 @default.
- W2044543328 hasConceptScore W2044543328C126838900 @default.
- W2044543328 hasConceptScore W2044543328C142724271 @default.
- W2044543328 hasConceptScore W2044543328C143409427 @default.
- W2044543328 hasConceptScore W2044543328C15744967 @default.
- W2044543328 hasConceptScore W2044543328C169760540 @default.
- W2044543328 hasConceptScore W2044543328C2776100374 @default.
- W2044543328 hasConceptScore W2044543328C2778234038 @default.
- W2044543328 hasConceptScore W2044543328C2778583010 @default.
- W2044543328 hasConceptScore W2044543328C2779012798 @default.
- W2044543328 hasConceptScore W2044543328C2779134260 @default.
- W2044543328 hasConceptScore W2044543328C2780906641 @default.
- W2044543328 hasConceptScore W2044543328C2781192897 @default.
- W2044543328 hasConceptScore W2044543328C71924100 @default.
- W2044543328 hasConceptScore W2044543328C99508421 @default.
- W2044543328 hasIssue "9" @default.
- W2044543328 hasLocation W20445433281 @default.
- W2044543328 hasLocation W20445433282 @default.
- W2044543328 hasOpenAccess W2044543328 @default.
- W2044543328 hasPrimaryLocation W20445433281 @default.
- W2044543328 hasRelatedWork W112611524 @default.
- W2044543328 hasRelatedWork W1966259414 @default.
- W2044543328 hasRelatedWork W1971372733 @default.
- W2044543328 hasRelatedWork W2011199674 @default.
- W2044543328 hasRelatedWork W2044543328 @default.
- W2044543328 hasRelatedWork W2050550944 @default.
- W2044543328 hasRelatedWork W2054700473 @default.
- W2044543328 hasRelatedWork W2105851005 @default.
- W2044543328 hasRelatedWork W3212410672 @default.
- W2044543328 hasRelatedWork W4323566082 @default.
- W2044543328 hasVolume "18" @default.
- W2044543328 isParatext "false" @default.
- W2044543328 isRetracted "false" @default.
- W2044543328 magId "2044543328" @default.
- W2044543328 workType "article" @default.