Matches in SemOpenAlex for { <https://semopenalex.org/work/W2806524669> ?p ?o ?g. }
Showing items 1 to 97 of
97
with 100 items per page.
- W2806524669 abstract "Previous research has identified CCNF mutations in familial (FALS) and sporadic amyotrophic lateral sclerosis (SALS), as well as in frontotemporal dementia (FTD). The aim of our study was to measure the frequency of CCNF mutations in a Chinese population. In total, 78 FALS patients, 581 SALS patients and 584 controls were included. We found 19 missense mutations, nine synonymous mutations and two intron variants. According to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines for the interpretation of sequence variants, eight variants were judged to be pathogenic or likely pathogenic variants. The frequency of such variants was 2.56% in FALS and 1.03% in SALS. In conclusion, CCNF mutations are common in FALS and SALS patients of Chinese origin, and further study is still needed." @default.
- W2806524669 created "2018-06-13" @default.
- W2806524669 creator A5003331841 @default.
- W2806524669 creator A5009318195 @default.
- W2806524669 creator A5027244110 @default.
- W2806524669 creator A5055725448 @default.
- W2806524669 creator A5063922467 @default.
- W2806524669 date "2018-06-29" @default.
- W2806524669 modified "2023-09-26" @default.
- W2806524669 title "Screening for CCNF Mutations in a Chinese Amyotrophic Lateral Sclerosis Cohort" @default.
- W2806524669 cites W1865484534 @default.
- W2806524669 cites W1909094636 @default.
- W2806524669 cites W1942961293 @default.
- W2806524669 cites W1981295136 @default.
- W2806524669 cites W1998437790 @default.
- W2806524669 cites W2003618511 @default.
- W2806524669 cites W2051978340 @default.
- W2806524669 cites W2078316799 @default.
- W2806524669 cites W2084541096 @default.
- W2806524669 cites W2098225812 @default.
- W2806524669 cites W2122543934 @default.
- W2806524669 cites W2126876873 @default.
- W2806524669 cites W2135607950 @default.
- W2806524669 cites W2138207816 @default.
- W2806524669 cites W2150523249 @default.
- W2806524669 cites W2154945114 @default.
- W2806524669 cites W2156799680 @default.
- W2806524669 cites W2157834251 @default.
- W2806524669 cites W2161938104 @default.
- W2806524669 cites W2340895726 @default.
- W2806524669 cites W2591724133 @default.
- W2806524669 cites W2605667089 @default.
- W2806524669 cites W2751366293 @default.
- W2806524669 cites W2763101818 @default.
- W2806524669 cites W4236884331 @default.
- W2806524669 cites W4238490163 @default.
- W2806524669 doi "https://doi.org/10.3389/fnagi.2018.00185" @default.
- W2806524669 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6034086" @default.
- W2806524669 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30008669" @default.
- W2806524669 hasPublicationYear "2018" @default.
- W2806524669 type Work @default.
- W2806524669 sameAs 2806524669 @default.
- W2806524669 citedByCount "6" @default.
- W2806524669 countsByYear W28065246692022 @default.
- W2806524669 countsByYear W28065246692023 @default.
- W2806524669 crossrefType "journal-article" @default.
- W2806524669 hasAuthorship W2806524669A5003331841 @default.
- W2806524669 hasAuthorship W2806524669A5009318195 @default.
- W2806524669 hasAuthorship W2806524669A5027244110 @default.
- W2806524669 hasAuthorship W2806524669A5055725448 @default.
- W2806524669 hasAuthorship W2806524669A5063922467 @default.
- W2806524669 hasBestOaLocation W28065246691 @default.
- W2806524669 hasConcept C104317684 @default.
- W2806524669 hasConcept C142724271 @default.
- W2806524669 hasConcept C2778641062 @default.
- W2806524669 hasConcept C2779134260 @default.
- W2806524669 hasConcept C2779483572 @default.
- W2806524669 hasConcept C2780596555 @default.
- W2806524669 hasConcept C501734568 @default.
- W2806524669 hasConcept C54355233 @default.
- W2806524669 hasConcept C64474127 @default.
- W2806524669 hasConcept C71924100 @default.
- W2806524669 hasConcept C75563809 @default.
- W2806524669 hasConcept C86803240 @default.
- W2806524669 hasConceptScore W2806524669C104317684 @default.
- W2806524669 hasConceptScore W2806524669C142724271 @default.
- W2806524669 hasConceptScore W2806524669C2778641062 @default.
- W2806524669 hasConceptScore W2806524669C2779134260 @default.
- W2806524669 hasConceptScore W2806524669C2779483572 @default.
- W2806524669 hasConceptScore W2806524669C2780596555 @default.
- W2806524669 hasConceptScore W2806524669C501734568 @default.
- W2806524669 hasConceptScore W2806524669C54355233 @default.
- W2806524669 hasConceptScore W2806524669C64474127 @default.
- W2806524669 hasConceptScore W2806524669C71924100 @default.
- W2806524669 hasConceptScore W2806524669C75563809 @default.
- W2806524669 hasConceptScore W2806524669C86803240 @default.
- W2806524669 hasLocation W28065246691 @default.
- W2806524669 hasLocation W28065246692 @default.
- W2806524669 hasLocation W28065246693 @default.
- W2806524669 hasLocation W28065246694 @default.
- W2806524669 hasOpenAccess W2806524669 @default.
- W2806524669 hasPrimaryLocation W28065246691 @default.
- W2806524669 hasRelatedWork W1970906801 @default.
- W2806524669 hasRelatedWork W2002897434 @default.
- W2806524669 hasRelatedWork W2015064721 @default.
- W2806524669 hasRelatedWork W2047394767 @default.
- W2806524669 hasRelatedWork W2118774456 @default.
- W2806524669 hasRelatedWork W2144779977 @default.
- W2806524669 hasRelatedWork W2442498468 @default.
- W2806524669 hasRelatedWork W2785263683 @default.
- W2806524669 hasRelatedWork W3024306633 @default.
- W2806524669 hasRelatedWork W3083808969 @default.
- W2806524669 hasVolume "10" @default.
- W2806524669 isParatext "false" @default.
- W2806524669 isRetracted "false" @default.
- W2806524669 magId "2806524669" @default.
- W2806524669 workType "article" @default.