Matches in SemOpenAlex for { <https://semopenalex.org/work/W2040977327> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W2040977327 endingPage "752" @default.
- W2040977327 startingPage "748" @default.
- W2040977327 abstract "Abstract Pelizaeus–Merzbacher disease (PMD) is a rare dysmyelination disorder, characterized by significant developmental delay, truncal hypotonia, spasticity, dysarthria, and nystagmus. Conventional magnetic resonance (MR) images demonstrate discordance of myelin maturation, while newer MR techniques, such as MR spectroscopy and diffusion tensor imaging, may be helpful in disease assessment. We report on a family of two young boys and their mother who share the same unusual 4‐bp deletion of the PLP1 gene: c51_54 del TTCC, causing truncation of the PLP1 in exon 2. The brain MRI appearances in this unique deletion, using newer MR imaging, are described. © 2010 Wiley‐Liss, Inc." @default.
- W2040977327 created "2016-06-24" @default.
- W2040977327 creator A5017178425 @default.
- W2040977327 creator A5020830890 @default.
- W2040977327 creator A5038489096 @default.
- W2040977327 creator A5051248957 @default.
- W2040977327 creator A5071108360 @default.
- W2040977327 creator A5080221189 @default.
- W2040977327 date "2010-02-22" @default.
- W2040977327 modified "2023-10-17" @default.
- W2040977327 title "Magnetic resonance imaging of a unique mutation in a family with Pelizaeus-Merzbacher disease" @default.
- W2040977327 cites W1971677797 @default.
- W2040977327 cites W2004995055 @default.
- W2040977327 cites W2005907615 @default.
- W2040977327 cites W2022421778 @default.
- W2040977327 cites W2025047388 @default.
- W2040977327 cites W2039009648 @default.
- W2040977327 cites W2039861170 @default.
- W2040977327 cites W2042763192 @default.
- W2040977327 cites W2047440973 @default.
- W2040977327 cites W2066257834 @default.
- W2040977327 cites W2067552991 @default.
- W2040977327 cites W2097857889 @default.
- W2040977327 cites W2100579279 @default.
- W2040977327 cites W2105518638 @default.
- W2040977327 cites W2119961485 @default.
- W2040977327 cites W2149407887 @default.
- W2040977327 doi "https://doi.org/10.1002/ajmg.a.33305" @default.
- W2040977327 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20186781" @default.
- W2040977327 hasPublicationYear "2010" @default.
- W2040977327 type Work @default.
- W2040977327 sameAs 2040977327 @default.
- W2040977327 citedByCount "8" @default.
- W2040977327 countsByYear W20409773272012 @default.
- W2040977327 countsByYear W20409773272013 @default.
- W2040977327 countsByYear W20409773272014 @default.
- W2040977327 countsByYear W20409773272016 @default.
- W2040977327 crossrefType "journal-article" @default.
- W2040977327 hasAuthorship W2040977327A5017178425 @default.
- W2040977327 hasAuthorship W2040977327A5020830890 @default.
- W2040977327 hasAuthorship W2040977327A5038489096 @default.
- W2040977327 hasAuthorship W2040977327A5051248957 @default.
- W2040977327 hasAuthorship W2040977327A5071108360 @default.
- W2040977327 hasAuthorship W2040977327A5080221189 @default.
- W2040977327 hasConcept C118552586 @default.
- W2040977327 hasConcept C126322002 @default.
- W2040977327 hasConcept C126838900 @default.
- W2040977327 hasConcept C142724271 @default.
- W2040977327 hasConcept C143409427 @default.
- W2040977327 hasConcept C1862650 @default.
- W2040977327 hasConcept C205778803 @default.
- W2040977327 hasConcept C2776100374 @default.
- W2040977327 hasConcept C2777639682 @default.
- W2040977327 hasConcept C2778594975 @default.
- W2040977327 hasConcept C2779012798 @default.
- W2040977327 hasConcept C2779134260 @default.
- W2040977327 hasConcept C2779546488 @default.
- W2040977327 hasConcept C2779736392 @default.
- W2040977327 hasConcept C71924100 @default.
- W2040977327 hasConceptScore W2040977327C118552586 @default.
- W2040977327 hasConceptScore W2040977327C126322002 @default.
- W2040977327 hasConceptScore W2040977327C126838900 @default.
- W2040977327 hasConceptScore W2040977327C142724271 @default.
- W2040977327 hasConceptScore W2040977327C143409427 @default.
- W2040977327 hasConceptScore W2040977327C1862650 @default.
- W2040977327 hasConceptScore W2040977327C205778803 @default.
- W2040977327 hasConceptScore W2040977327C2776100374 @default.
- W2040977327 hasConceptScore W2040977327C2777639682 @default.
- W2040977327 hasConceptScore W2040977327C2778594975 @default.
- W2040977327 hasConceptScore W2040977327C2779012798 @default.
- W2040977327 hasConceptScore W2040977327C2779134260 @default.
- W2040977327 hasConceptScore W2040977327C2779546488 @default.
- W2040977327 hasConceptScore W2040977327C2779736392 @default.
- W2040977327 hasConceptScore W2040977327C71924100 @default.
- W2040977327 hasIssue "3" @default.
- W2040977327 hasLocation W20409773271 @default.
- W2040977327 hasLocation W20409773272 @default.
- W2040977327 hasOpenAccess W2040977327 @default.
- W2040977327 hasPrimaryLocation W20409773271 @default.
- W2040977327 hasRelatedWork W147530051 @default.
- W2040977327 hasRelatedWork W1988547944 @default.
- W2040977327 hasRelatedWork W2027045802 @default.
- W2040977327 hasRelatedWork W2032888454 @default.
- W2040977327 hasRelatedWork W2094326335 @default.
- W2040977327 hasRelatedWork W2106360880 @default.
- W2040977327 hasRelatedWork W2196495761 @default.
- W2040977327 hasRelatedWork W2351669973 @default.
- W2040977327 hasRelatedWork W2896376224 @default.
- W2040977327 hasRelatedWork W3160456149 @default.
- W2040977327 hasVolume "152A" @default.
- W2040977327 isParatext "false" @default.
- W2040977327 isRetracted "false" @default.
- W2040977327 magId "2040977327" @default.
- W2040977327 workType "article" @default.