Matches in SemOpenAlex for { <https://semopenalex.org/work/W1978954807> ?p ?o ?g. }
Showing items 1 to 97 of
97
with 100 items per page.
- W1978954807 endingPage "10" @default.
- W1978954807 startingPage "7" @default.
- W1978954807 abstract "Familial amyotrophic lateral sclerosis (FALS) is an autosomal dominant, adult onset, neurological disorder caused by the degeneration of motor neurons of the cortex, brainstem and spinal cord. Recently, the defective gene in some FALS families was identified as the Cu/Zn superoxide dismutase (SOD1) gene. However, SOD1 mutations are present in approximately 20% of patients with FALS. We have tested the genes of two more free radical detoxifying enzymes, Mn superoxide dismutase (SOD2) and catalase by single strand conformation analysis (SSCA) for mutations in the remaining FALS cases. No mutations were found in the catalase enzyme in 73 unrelated FALS cases; mutations were not detected in the 66% of the SOD2 gene analyzed. FALS does not appear to be caused by mutations in the SOD2 nor the catalase genes." @default.
- W1978954807 created "2016-06-24" @default.
- W1978954807 creator A5000758712 @default.
- W1978954807 creator A5002628021 @default.
- W1978954807 creator A5018139356 @default.
- W1978954807 creator A5025571618 @default.
- W1978954807 creator A5040082469 @default.
- W1978954807 creator A5070811084 @default.
- W1978954807 date "1995-01-01" @default.
- W1978954807 modified "2023-09-23" @default.
- W1978954807 title "Absence of mutations in the Mn superoxide dismutase or catalase genes in familial amyotrophic lateral sclerosis" @default.
- W1978954807 cites W1967050619 @default.
- W1978954807 cites W1974057844 @default.
- W1978954807 cites W1980497908 @default.
- W1978954807 cites W1980867943 @default.
- W1978954807 cites W1987395167 @default.
- W1978954807 cites W2003975144 @default.
- W1978954807 cites W2015989692 @default.
- W1978954807 cites W2036855990 @default.
- W1978954807 cites W2056867775 @default.
- W1978954807 cites W2060052903 @default.
- W1978954807 cites W2096386031 @default.
- W1978954807 cites W2137434543 @default.
- W1978954807 cites W2166155593 @default.
- W1978954807 doi "https://doi.org/10.1016/0960-8966(94)e0022-z" @default.
- W1978954807 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7719145" @default.
- W1978954807 hasPublicationYear "1995" @default.
- W1978954807 type Work @default.
- W1978954807 sameAs 1978954807 @default.
- W1978954807 citedByCount "26" @default.
- W1978954807 countsByYear W19789548072012 @default.
- W1978954807 countsByYear W19789548072021 @default.
- W1978954807 crossrefType "journal-article" @default.
- W1978954807 hasAuthorship W1978954807A5000758712 @default.
- W1978954807 hasAuthorship W1978954807A5002628021 @default.
- W1978954807 hasAuthorship W1978954807A5018139356 @default.
- W1978954807 hasAuthorship W1978954807A5025571618 @default.
- W1978954807 hasAuthorship W1978954807A5040082469 @default.
- W1978954807 hasAuthorship W1978954807A5070811084 @default.
- W1978954807 hasConcept C104317684 @default.
- W1978954807 hasConcept C126322002 @default.
- W1978954807 hasConcept C153911025 @default.
- W1978954807 hasConcept C181199279 @default.
- W1978954807 hasConcept C2775838275 @default.
- W1978954807 hasConcept C2776108821 @default.
- W1978954807 hasConcept C2777615887 @default.
- W1978954807 hasConcept C2778248901 @default.
- W1978954807 hasConcept C2778979269 @default.
- W1978954807 hasConcept C2779134260 @default.
- W1978954807 hasConcept C2780596555 @default.
- W1978954807 hasConcept C2994225774 @default.
- W1978954807 hasConcept C501734568 @default.
- W1978954807 hasConcept C54355233 @default.
- W1978954807 hasConcept C55493867 @default.
- W1978954807 hasConcept C71924100 @default.
- W1978954807 hasConcept C75563809 @default.
- W1978954807 hasConcept C86803240 @default.
- W1978954807 hasConceptScore W1978954807C104317684 @default.
- W1978954807 hasConceptScore W1978954807C126322002 @default.
- W1978954807 hasConceptScore W1978954807C153911025 @default.
- W1978954807 hasConceptScore W1978954807C181199279 @default.
- W1978954807 hasConceptScore W1978954807C2775838275 @default.
- W1978954807 hasConceptScore W1978954807C2776108821 @default.
- W1978954807 hasConceptScore W1978954807C2777615887 @default.
- W1978954807 hasConceptScore W1978954807C2778248901 @default.
- W1978954807 hasConceptScore W1978954807C2778979269 @default.
- W1978954807 hasConceptScore W1978954807C2779134260 @default.
- W1978954807 hasConceptScore W1978954807C2780596555 @default.
- W1978954807 hasConceptScore W1978954807C2994225774 @default.
- W1978954807 hasConceptScore W1978954807C501734568 @default.
- W1978954807 hasConceptScore W1978954807C54355233 @default.
- W1978954807 hasConceptScore W1978954807C55493867 @default.
- W1978954807 hasConceptScore W1978954807C71924100 @default.
- W1978954807 hasConceptScore W1978954807C75563809 @default.
- W1978954807 hasConceptScore W1978954807C86803240 @default.
- W1978954807 hasIssue "1" @default.
- W1978954807 hasLocation W19789548071 @default.
- W1978954807 hasLocation W19789548072 @default.
- W1978954807 hasOpenAccess W1978954807 @default.
- W1978954807 hasPrimaryLocation W19789548071 @default.
- W1978954807 hasRelatedWork W1973034225 @default.
- W1978954807 hasRelatedWork W1978954807 @default.
- W1978954807 hasRelatedWork W2002897434 @default.
- W1978954807 hasRelatedWork W2020860740 @default.
- W1978954807 hasRelatedWork W2038372259 @default.
- W1978954807 hasRelatedWork W2043421961 @default.
- W1978954807 hasRelatedWork W2093784593 @default.
- W1978954807 hasRelatedWork W2130476668 @default.
- W1978954807 hasRelatedWork W2144779977 @default.
- W1978954807 hasRelatedWork W2792992510 @default.
- W1978954807 hasVolume "5" @default.
- W1978954807 isParatext "false" @default.
- W1978954807 isRetracted "false" @default.
- W1978954807 magId "1978954807" @default.
- W1978954807 workType "article" @default.