FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2893505836> ?p ?o ?g. }

• W2893505836 endingPage "271" @default.
• W2893505836 startingPage "268" @default.
• W2893505836 abstract "Objective Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease of motor neurons with a median survival of 2 years. Familial ALS has a younger age of onset than apparently sporadic ALS. We sought to determine whether this younger age of onset is a result of ascertainment bias or has a genetic basis. Methods Samples from people with ALS were sequenced for 13 ALS genes. To determine the effect of genetic variation, age of onset was compared in people with sporadic ALS carrying a pathogenic gene variant and those who do not; to determine the effect of family history, we compared those with genetic sporadic ALS and familial ALS. Results There were 941 people with a diagnosis of ALS, 100 with familial ALS. Of 841 with apparently sporadic ALS, 95 carried a pathogenic gene variant. The mean age of onset in familial ALS was 5.3 years younger than for apparently sporadic ALS (p=6.0×10 −5 , 95% CI 2.8 to 7.8 years). The mean age of onset of genetic sporadic ALS was 2.9 years younger than non-genetic sporadic ALS (p=0.011, 95% CI 0.7 to 5.2 years). There was no difference between the mean age of onset in genetic sporadic ALS and familial ALS (p=0.097). Conclusions People with familial ALS have an age of onset about 5 years younger than those with apparently sporadic ALS, and we have shown that this is a result of Mendelian gene variants lowering the age of onset, rather than ascertainment bias." @default.
• W2893505836 created "2018-10-05" @default.
• W2893505836 creator A5000564787 @default.
• W2893505836 creator A5013667394 @default.
• W2893505836 creator A5013893534 @default.
• W2893505836 creator A5021931896 @default.
• W2893505836 creator A5038119270 @default.
• W2893505836 creator A5049205373 @default.
• W2893505836 creator A5050302490 @default.
• W2893505836 creator A5058523077 @default.
• W2893505836 creator A5061853919 @default.
• W2893505836 creator A5075875415 @default.
• W2893505836 creator A5076145333 @default.
• W2893505836 creator A5080452479 @default.
• W2893505836 creator A5089453718 @default.
• W2893505836 creator A5090495771 @default.
• W2893505836 date "2018-09-30" @default.
• W2893505836 modified "2023-10-06" @default.
• W2893505836 title "Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias" @default.
• W2893505836 cites W1497027037 @default.
• W2893505836 cites W1894493322 @default.
• W2893505836 cites W1906541786 @default.
• W2893505836 cites W1981578816 @default.
• W2893505836 cites W1984372804 @default.
• W2893505836 cites W1987510481 @default.
• W2893505836 cites W1996703483 @default.
• W2893505836 cites W2010652292 @default.
• W2893505836 cites W2028491013 @default.
• W2893505836 cites W2036295788 @default.
• W2893505836 cites W2055456084 @default.
• W2893505836 cites W2061194981 @default.
• W2893505836 cites W2069206434 @default.
• W2893505836 cites W2079844502 @default.
• W2893505836 cites W2113942290 @default.
• W2893505836 cites W2115450084 @default.
• W2893505836 cites W2133305315 @default.
• W2893505836 cites W2153600047 @default.
• W2893505836 cites W2154945114 @default.
• W2893505836 cites W2161480369 @default.
• W2893505836 cites W2477863367 @default.
• W2893505836 cites W2563442284 @default.
• W2893505836 cites W2607308472 @default.
• W2893505836 cites W2766075458 @default.
• W2893505836 cites W4210998205 @default.
• W2893505836 cites W4252979096 @default.
• W2893505836 doi "https://doi.org/10.1136/jnnp-2018-319089" @default.
• W2893505836 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6518463" @default.
• W2893505836 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30270202" @default.
• W2893505836 hasPublicationYear "2018" @default.
• W2893505836 type Work @default.
• W2893505836 sameAs 2893505836 @default.
• W2893505836 citedByCount "30" @default.
• W2893505836 countsByYear W28935058362018 @default.
• W2893505836 countsByYear W28935058362019 @default.
• W2893505836 countsByYear W28935058362020 @default.
• W2893505836 countsByYear W28935058362021 @default.
• W2893505836 countsByYear W28935058362022 @default.
• W2893505836 countsByYear W28935058362023 @default.
• W2893505836 crossrefType "journal-article" @default.
• W2893505836 hasAuthorship W2893505836A5000564787 @default.
• W2893505836 hasAuthorship W2893505836A5013667394 @default.
• W2893505836 hasAuthorship W2893505836A5013893534 @default.
• W2893505836 hasAuthorship W2893505836A5021931896 @default.
• W2893505836 hasAuthorship W2893505836A5038119270 @default.
• W2893505836 hasAuthorship W2893505836A5049205373 @default.
• W2893505836 hasAuthorship W2893505836A5050302490 @default.
• W2893505836 hasAuthorship W2893505836A5058523077 @default.
• W2893505836 hasAuthorship W2893505836A5061853919 @default.
• W2893505836 hasAuthorship W2893505836A5075875415 @default.
• W2893505836 hasAuthorship W2893505836A5076145333 @default.
• W2893505836 hasAuthorship W2893505836A5080452479 @default.
• W2893505836 hasAuthorship W2893505836A5089453718 @default.
• W2893505836 hasAuthorship W2893505836A5090495771 @default.
• W2893505836 hasBestOaLocation W28935058361 @default.
• W2893505836 hasConcept C104317684 @default.
• W2893505836 hasConcept C126322002 @default.
• W2893505836 hasConcept C175783326 @default.
• W2893505836 hasConcept C180754005 @default.
• W2893505836 hasConcept C195054827 @default.
• W2893505836 hasConcept C197754878 @default.
• W2893505836 hasConcept C2777427615 @default.
• W2893505836 hasConcept C2777767895 @default.
• W2893505836 hasConcept C2777898937 @default.
• W2893505836 hasConcept C2778641062 @default.
• W2893505836 hasConcept C2779134260 @default.
• W2893505836 hasConcept C2779483572 @default.
• W2893505836 hasConcept C2780596555 @default.
• W2893505836 hasConcept C2780673598 @default.
• W2893505836 hasConcept C2781179581 @default.
• W2893505836 hasConcept C54355233 @default.
• W2893505836 hasConcept C71924100 @default.
• W2893505836 hasConcept C86803240 @default.
• W2893505836 hasConceptScore W2893505836C104317684 @default.
• W2893505836 hasConceptScore W2893505836C126322002 @default.
• W2893505836 hasConceptScore W2893505836C175783326 @default.
• W2893505836 hasConceptScore W2893505836C180754005 @default.
• W2893505836 hasConceptScore W2893505836C195054827 @default.
• W2893505836 hasConceptScore W2893505836C197754878 @default.

• next