Matches in SemOpenAlex for { <https://semopenalex.org/work/W2415496987> ?p ?o ?g. }
Showing items 1 to 64 of
64
with 100 items per page.
- W2415496987 endingPage "5" @default.
- W2415496987 startingPage "1051" @default.
- W2415496987 abstract "A 19-year-old Thai woman presented with progressive ataxia and generalized tonic-clonic seizures. Later on, she developed status epilepticus. Blood was tested by molecular DNA analysis which showed A8344G mitochondrial DNA mutation associated with myoclonic epilepsy with ragged-red fibers (MERRF). We confirmed this finding in other members of this family. This is an interesting case report in Thailand of MERRF identified to have A-->G transition mutation at nucleotide 8344 of mitochondrial tRNA(lys) gene without ragged-red fibers from histopathologic studies of muscle. Molecular genetic analysis in suspicious cases of mitochondrial disorders is necessary for proper management and genetic counseling." @default.
- W2415496987 created "2016-06-24" @default.
- W2415496987 creator A5015822957 @default.
- W2415496987 creator A5060020283 @default.
- W2415496987 creator A5070147235 @default.
- W2415496987 creator A5078507372 @default.
- W2415496987 creator A5089556636 @default.
- W2415496987 date "2001-07-01" @default.
- W2415496987 modified "2023-09-23" @default.
- W2415496987 title "Seizures in myoclonic epilepsy with ragged-red fibers detected by DNA analysis: a case report." @default.
- W2415496987 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11759966" @default.
- W2415496987 hasPublicationYear "2001" @default.
- W2415496987 type Work @default.
- W2415496987 sameAs 2415496987 @default.
- W2415496987 citedByCount "1" @default.
- W2415496987 crossrefType "journal-article" @default.
- W2415496987 hasAuthorship W2415496987A5015822957 @default.
- W2415496987 hasAuthorship W2415496987A5060020283 @default.
- W2415496987 hasAuthorship W2415496987A5070147235 @default.
- W2415496987 hasAuthorship W2415496987A5078507372 @default.
- W2415496987 hasAuthorship W2415496987A5089556636 @default.
- W2415496987 hasConcept C104317684 @default.
- W2415496987 hasConcept C118552586 @default.
- W2415496987 hasConcept C142724271 @default.
- W2415496987 hasConcept C24586158 @default.
- W2415496987 hasConcept C2775859823 @default.
- W2415496987 hasConcept C2777341932 @default.
- W2415496987 hasConcept C2778186239 @default.
- W2415496987 hasConcept C2780906641 @default.
- W2415496987 hasConcept C54355233 @default.
- W2415496987 hasConcept C71924100 @default.
- W2415496987 hasConcept C86803240 @default.
- W2415496987 hasConceptScore W2415496987C104317684 @default.
- W2415496987 hasConceptScore W2415496987C118552586 @default.
- W2415496987 hasConceptScore W2415496987C142724271 @default.
- W2415496987 hasConceptScore W2415496987C24586158 @default.
- W2415496987 hasConceptScore W2415496987C2775859823 @default.
- W2415496987 hasConceptScore W2415496987C2777341932 @default.
- W2415496987 hasConceptScore W2415496987C2778186239 @default.
- W2415496987 hasConceptScore W2415496987C2780906641 @default.
- W2415496987 hasConceptScore W2415496987C54355233 @default.
- W2415496987 hasConceptScore W2415496987C71924100 @default.
- W2415496987 hasConceptScore W2415496987C86803240 @default.
- W2415496987 hasIssue "7" @default.
- W2415496987 hasLocation W24154969871 @default.
- W2415496987 hasOpenAccess W2415496987 @default.
- W2415496987 hasPrimaryLocation W24154969871 @default.
- W2415496987 hasRelatedWork W115542185 @default.
- W2415496987 hasRelatedWork W1603307967 @default.
- W2415496987 hasRelatedWork W1607400741 @default.
- W2415496987 hasRelatedWork W2015810459 @default.
- W2415496987 hasRelatedWork W2020172680 @default.
- W2415496987 hasRelatedWork W2117811136 @default.
- W2415496987 hasRelatedWork W2242822082 @default.
- W2415496987 hasRelatedWork W2415496987 @default.
- W2415496987 hasRelatedWork W2474344325 @default.
- W2415496987 hasRelatedWork W772430662 @default.
- W2415496987 hasVolume "84" @default.
- W2415496987 isParatext "false" @default.
- W2415496987 isRetracted "false" @default.
- W2415496987 magId "2415496987" @default.
- W2415496987 workType "article" @default.