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C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation2021 Journal of Clinical Investigation article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Eva Lausberg, Sebastian Gießelmann, Joseph P. Dewulf, Elsa Wiame, Anja Holz, Ramona Salvarinova, +27 more
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A Novel APP p.V742L variant in a patient with ischemic small vessel disease enhances FE65 signalling2026 Neurobiology of Disease article Medicine Alzheimer's disease research and treatments Open access
Bas J. B. Voesenek, Julie W. Rutten, Monique P. C. Mulder, Hailiang Mei, Esther A. R. Nibbeling, Ellis S. van Etten, +4 more
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Cross‐omics studies of the role of apolipoprotein E in Alzheimer’s disease and dementia: Searching common pathways in patients, populations and cellular models2020 Alzheimer s & Dementia article Medicine Alzheimer's disease research and treatments Open access
Cornelia M. van Duijn, Shahzad Ahmad, María Eugenia Sáez, Keiryn L. Bennett, Alfredo Cabrera Socorro, Margot H.M. Bakker, +3 more
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