Author
National Hospital for Neurology and NeurosurgeryORCID 0000-0001-7389-0348Unclaimed ORCID profile · follow to get notified of new preprints
34 papers
Recent·Most cited
Anna‐Leigh Brown, Oscar G. Wilkins, Matthew J. Keuss…·Pietro Fratta
The paper shows that ALS/FTD risk variants in UNC13A increase sensitivity to TDP-43 depletion by promoting cryptic exon inclusion and protein loss.
Ruth Chia, Marya S. Sabir, Sara Bandrés‐Ciga…·Thomas G. Beach
This paper identifies five new genetic risk loci for Lewy body dementia through whole-genome sequencing and shows shared risk profiles with Alzheimer’s and Parkinson’s disease.
Rita João Guerreiro, Valentina Escott‐Price, Dena G. Hernandez…·José Brás
This study estimates the heritability of dementia with Lewy bodies (DLB) and finds it to be higher than previous estimates, with low variance explained by polygenic risk scores from Parkinson's or Alzheimer's disease.
Lorenza Magno, Christian B. Lessard, Marta Martins…·Paul John Whiting
The paper confirms that the PLCG2 P522R variant is protective against Alzheimer’s disease and shows it weakly activates PLCG2 enzyme function in microglia.