TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
2022 · Nature · 486 citations
https://doi.org/10.1038/s41586-022-04436-3
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Emil K. Gustavsson
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Emil K. Gustavsson is an academic researcher from University of Cambridge. The author has contributed to research in topics: Parkinson's Disease Mechanisms and Treatments & RNA Research and Splicing & RNA and protein synthesis mechanisms. The author has an h-index of 21, co-authored 79 publications.
ORCID: 0000-0003-0541-7537Papers by this author
worksGenome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
2021 · Nature Genetics · 465 citations
https://doi.org/10.1038/s41588-021-00785-3
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses
2024 · The Lancet Neurology · 96 citations
https://doi.org/10.1016/s1474-4422(24)00121-2
Altered dopamine release and monoamine transporters in Vps35 p.D620N knock-in mice
2018 · npj Parkinson s Disease · 78 citations
https://doi.org/10.1038/s41531-018-0063-3
Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis
2023 · Brain · 67 citations
https://doi.org/10.1093/brain/awad240
Genomewide Association Studies of <scp> <i>LRRK2</i> </scp> Modifiers of Parkinson's Disease
2021 · Annals of Neurology · 47 citations
https://doi.org/10.1002/ana.26094
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