Matches in SemOpenAlex for { <https://semopenalex.org/work/W2037221106> ?p ?o ?g. }
Showing items 1 to 77 of
77
with 100 items per page.
- W2037221106 endingPage "366" @default.
- W2037221106 startingPage "365" @default.
- W2037221106 abstract "The human phenotype with primarily impaired myelination is represented by hypomyelinating leukodystrophies. The most frequent form is Pelizaeus-Merzbacher disease, which is due to alterations in the PLP1 gene encoding the major myelin protein. Another form, Pelizaeus-Merzbacher-like disease, is partly associated with mutations in the GJA12 gene encoding gap junction protein alpha 12, but seems to be heterogeneous. Olig1 and Olig2 are transcription factors in oligodendrocyte development. We postulated that disturbed oligodendroglial maturation could be associated with primary hypomyelination in humans and analyzed the coding sequence of OLIG1 and OLIG2 in 13 patients from 12 unrelated families which were thoroughly characterized with regard to phenotype and magnetic resonance imaging results. From our findings we conclude that mutations in OLIG1 and OLIG2 are not likely to be associated with this subgroup of hypomyelinating disorders." @default.
- W2037221106 created "2016-06-24" @default.
- W2037221106 creator A5002664481 @default.
- W2037221106 creator A5039896657 @default.
- W2037221106 creator A5058127121 @default.
- W2037221106 creator A5076205740 @default.
- W2037221106 date "2007-01-01" @default.
- W2037221106 modified "2023-10-17" @default.
- W2037221106 title "Oligodendroglial transcription factor (OLIG1 and OLIG2) mutations are not associated with Pelizaeus–Merzbacher-like leukodystrophy" @default.
- W2037221106 cites W173955245 @default.
- W2037221106 cites W1988999751 @default.
- W2037221106 cites W2036638493 @default.
- W2037221106 cites W2042763192 @default.
- W2037221106 cites W2082337589 @default.
- W2037221106 cites W2125650861 @default.
- W2037221106 cites W2128464557 @default.
- W2037221106 cites W2316691306 @default.
- W2037221106 doi "https://doi.org/10.1002/ajmg.b.30434" @default.
- W2037221106 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17171653" @default.
- W2037221106 hasPublicationYear "2007" @default.
- W2037221106 type Work @default.
- W2037221106 sameAs 2037221106 @default.
- W2037221106 citedByCount "3" @default.
- W2037221106 countsByYear W20372211062012 @default.
- W2037221106 crossrefType "journal-article" @default.
- W2037221106 hasAuthorship W2037221106A5002664481 @default.
- W2037221106 hasAuthorship W2037221106A5039896657 @default.
- W2037221106 hasAuthorship W2037221106A5058127121 @default.
- W2037221106 hasAuthorship W2037221106A5076205740 @default.
- W2037221106 hasConcept C104317684 @default.
- W2037221106 hasConcept C127716648 @default.
- W2037221106 hasConcept C142724271 @default.
- W2037221106 hasConcept C169760540 @default.
- W2037221106 hasConcept C2776100374 @default.
- W2037221106 hasConcept C2776985911 @default.
- W2037221106 hasConcept C2778609137 @default.
- W2037221106 hasConcept C2779055221 @default.
- W2037221106 hasConcept C2779134260 @default.
- W2037221106 hasConcept C529278444 @default.
- W2037221106 hasConcept C54355233 @default.
- W2037221106 hasConcept C71924100 @default.
- W2037221106 hasConcept C86803240 @default.
- W2037221106 hasConceptScore W2037221106C104317684 @default.
- W2037221106 hasConceptScore W2037221106C127716648 @default.
- W2037221106 hasConceptScore W2037221106C142724271 @default.
- W2037221106 hasConceptScore W2037221106C169760540 @default.
- W2037221106 hasConceptScore W2037221106C2776100374 @default.
- W2037221106 hasConceptScore W2037221106C2776985911 @default.
- W2037221106 hasConceptScore W2037221106C2778609137 @default.
- W2037221106 hasConceptScore W2037221106C2779055221 @default.
- W2037221106 hasConceptScore W2037221106C2779134260 @default.
- W2037221106 hasConceptScore W2037221106C529278444 @default.
- W2037221106 hasConceptScore W2037221106C54355233 @default.
- W2037221106 hasConceptScore W2037221106C71924100 @default.
- W2037221106 hasConceptScore W2037221106C86803240 @default.
- W2037221106 hasIssue "3" @default.
- W2037221106 hasLocation W20372211061 @default.
- W2037221106 hasLocation W20372211062 @default.
- W2037221106 hasOpenAccess W2037221106 @default.
- W2037221106 hasPrimaryLocation W20372211061 @default.
- W2037221106 hasRelatedWork W1602694202 @default.
- W2037221106 hasRelatedWork W1988702707 @default.
- W2037221106 hasRelatedWork W2005950079 @default.
- W2037221106 hasRelatedWork W2010936746 @default.
- W2037221106 hasRelatedWork W2089865436 @default.
- W2037221106 hasRelatedWork W2098499905 @default.
- W2037221106 hasRelatedWork W2119409602 @default.
- W2037221106 hasRelatedWork W2143066563 @default.
- W2037221106 hasRelatedWork W2173612877 @default.
- W2037221106 hasRelatedWork W4384937289 @default.
- W2037221106 hasVolume "144B" @default.
- W2037221106 isParatext "false" @default.
- W2037221106 isRetracted "false" @default.
- W2037221106 magId "2037221106" @default.
- W2037221106 workType "article" @default.