Author
InsermORCID 0000-0003-1172-0196Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Audrey Coulon, Florian Rabiller, Mari Takalo…·Jean‐Charles Lambert
This study shows that PLCG2 downregulation impairs synaptic function and increases Alzheimer's disease-related markers in neurons.
Henne H. Holstege, Matthijs W. J. de Waal, Niccoló Tesi…·Jennifer S. Yokoyama
The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.
Henne H. Holstege, Marc Hulsman, Camille Charbonnier…·John Hardy
The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.
Catherine Schramm, Camille Charbonnier, Aline Zaréa…·Gaël Nicolas
The paper estimates the penetrance of SORL1 loss-of-function variants in Alzheimer's disease using a family-based survival model adjusted for APOE genotypes, finding high penetrance only in APOE-ε4ε4 carriers.