Prominent publications by Lisa Strug

KOL Index score: 5266

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
KOL Index score: 1312

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

Sample of concepts for which Lisa Strug is among the top experts in the world.
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

Top KOLs in the world
Barbara K Stubblefield
gaucher disease dopaminergic neurons myoclonic epilepsy
Ellen Sidransky
gaucher disease glucocerebrosidase mutations lysosomal storage disorders
Mary E LaMarca
gaucher disease e326k mutation lysosomal storage disorders
Karen S Marder
parkinson disease cognitive impairment lewy bodies
Nir Giladi
parkinson disease fall risk freezing gait
Ruth Ottman
essential tremor genetic testing familial aggregation
Select a search phrase   n370s allele , n370s allele cases , n370s allele nt1226

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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Canadian COVID Genomics Network, HostSeq Project, Canada | Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, New York, USA

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