 | Lisa Strug |
Prominent publications by Lisa Strug
Pilot association study of the β‐glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity
[ PUBLICATION ]
Mutations in the beta-glucocerebrosidase gene cause Gaucher's disease, one of the most common lysosomal lipid storage diseases in the Ashkenazi Jewish population. The occurrence of parkinsonism in patients with Type 1 Gaucher's disease has been noted previously. In this pilot study, we evaluated a possible association between Parkinson's disease (PD) and the beta-glucocerebrosidase gene N370S allele (nt.1226 A>G) in 160 Parkinson's disease patients and 92 controls of Jewish ethnicity. We ...
| Known for N370s Allele | Mutational Analysis | Parkinsons Disease | Higher Frequency | Aged Parkinson |
Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19
[ PUBLICATION ]
A recent report found that rare predicted loss-of-function (pLOF) variants across 13 candidate genes in TLR3- and IRF7-dependent type I IFN pathways explain up to 3.5% of severe COVID-19 cases. We performed whole-exome or whole-genome sequencing of 1,934 COVID-19 cases (713 with severe and 1,221 with mild disease) and 15,251 ancestry-matched population controls across four independent COVID-19 biobanks. We then tested if rare pLOF variants in these 13 genes were associated with severe ...
| Known for Population Controls | Genes Severe | Function Variants | Covid19 Outcomes | Observed Enrichment |
Lisa Strug: Influence Statistics
| Concept | World rank |
|---|---|
| mortality 11 cities | #10 |
| mortality risk temperature | #14 |
| frequency n370s | #22 |
| weatherrelated mortality | #29 |
| n370s allele | #39 |
| temperatures weather | #77 |
| allele parkinson | #90 |
Key People For N370s Allele
Lisa Strug:Expert Impact
Concepts for whichLisa Strughas direct influence:N370s allele, Eastern united states, 11 cities, Mortality risk temperature, Mortality mortality risk, Temperature mortality, Parkinsons disease, Mortality 11 cities.
Lisa Strug:KOL impact
Concepts related to the work of other authors for whichfor which Lisa Strug has influence:Heat waves, Air pollution, Ambient temperature, Gaucher disease, Hospital admissions, United states, Daily mortality.
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