Author
Erasmus MCORCID 0000-0003-2533-2530Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 papers
Recent·Most cited
Vanshika Bidhan, Sarah Wynants, Toon Swings…·Rosa Rademakers
The paper analyzes somatic mutations in neurons from FTLD-TDP type C patients and controls, finding extensive low-frequency variants in TARDBP and other genes.
Cyril P. Pottier, Fahri Küçükali, Matt C. Baker…·Edward B. Lee
This study identifies genetic risk factors for FTLD-TDP subtypes using whole-genome sequencing and meta-analysis across multiple cohorts.
Tal Benjamin‐Zukerman, Valeria Pane, Rania Safadi‐Safa…·Ronit Ilouz
This study investigates the RIβ-L50R variant in NLPD-PKA, showing it causes misfolding, disrupts PKA holoenzyme assembly, and increases C-subunit nuclear translocation, with a potential therapeutic strategy to reduce dissociation.
Olivier Quenez, Catherine Schramm, Kévin Cassinari…·Betty Marije Tijms
The paper analyzes exome data from 22,319 individuals to identify rare CNVs and 22q11.21 dosage as risk factors for Alzheimer's disease.
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.