The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer's disease

Source
Proceedings of the National Academy of Sciences of the United States of America - ISSN 0027-8424-121:37 (2024) p. 1-12
Author(s)
    Anne Mette G. Jensen, Jan Raska, Petr Fojtik, Giulia Monti, Melanie Lunding, Simona Bartova, Veronika Pospisilova, Sven J. van der Lee, Jasper Van Dongen, Liene Bossaerts, Christine Van Broeckhoven, Oriol Dols-Icardo, Alberto Lleo, Sonia Bellini, Roberta Ghidoni, Marc Hulsman, Gregory A. Petsko, Kristel Sleegers, Dasa Bohaciakova, Henne Holstege, Olav M. Andersen

Hypothesis-based investigation of known AD risk variants reveals the genetic underpinnings of neuropathological lesions observed in Alzheimer's-type dementia

Source
Acta neuropathologica - ISSN 0001-6322-148:1 (2024) p. 1-18
Author(s)

Scywalker : scalable end-to-end data analysis workflow for long-read single-cell transcriptome sequencing

Source
Bioinformatics - ISSN 1367-4803-40:9 (2024) p. 1-10
Author(s)

Dissociating effects of aging and genetic risk of sporadic Alzheimer's disease on path integration

Source
Neurobiology of aging - ISSN 0197-4580-131 (2023) p. 170-181
Author(s)

Whole‐exome rare‐variant analysis of Alzheimer's disease and related biomarker traits

Source
Alzheimer's & dementia - ISSN 1552-5260-19:6 (2023) p. 2317-2331
Author(s)