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Neurology. Genetics|May 8, 2023
Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic DisordersNika Schuermans, Hannah Verdin, Jody Ghijsels, et al.Progress in Neurobiology|December 8, 2022
Tau promotes oxidative stress-associated cycling neurons in S phase as a pro-survival mechanism: Possible implication for Alzheimer's diseaseMarine Denechaud, Sarah Geurs, Thomas Comptdaer, et al.Acta Neuropathologica Communications|January 9, 2022
The Alzheimer susceptibility gene BIN1 induces isoform-dependent neurotoxicity through early endosome defectsErwan Lambert, Orthis Saha, Bruna Soares Landeira, et al.Acta Neuropathologica|March 31, 2023
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTDPedro Ervilha Pereira, Nika Schuermans, Antoon Meylemans, et al.Nature|July 25, 2006
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21Marc Cruts, Ilse Gijselinck, Julie van der Zee, et al.American Journal of Human Genetics|February 27, 2024
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disabilityMaría Del Rocío Pérez Baca, Eva Z Jacobs, Lies Vantomme, et al.Nature Communications|October 2, 2021
Ring finger protein 213 assembles into a sensor for ISGylated proteins with antimicrobial activityFabien Thery, Lia Martina, Caroline Asselman, et al.Human Mutation|March 9, 2007
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementiaJulie van der Zee, Isabelle Le Ber, Sebastian Maurer-Stroh, et al.Archives of Neurology|October 10, 2007
Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder familyNathalie Brouwers, Karen Nuytemans, Julie van der Zee, et al.Neurobiology of Aging|September 12, 2018
Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's diseaseElena S Gusareva, Jean-Claude Twizere, Kristel Sleegers, et al.Pageof 6