Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Soluble SorLA in CSF, a novel biomarker to explore disrupted trafficking of SorLA protein in Alzheimer disease.
Castelot R et al.
Alzheimer's Research & Therapy, 2025
The impact of rare genetic variants on Alzheimer disease.
De Deyn L et al.
Nature Reviews. Neurology, 2025
The Spectrum of Genetic Risk in Alzheimer Disease.
Karagas N et al.
Neurology. Genetics, 2025
Haploinsufficiency and Alzheimer's Disease: The Possible Pathogenic and Protective Genetic Factors.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2024
The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer's disease.
Jensen AMG et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Functional characterization of SORL1 variants in cell-based assays to investigate variant pathogenicity.
Fazeli E et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2024
A familial missense variant in the Alzheimer's disease gene SORL1 impairs its maturation and endosomal sorting.
Fazeli E et al.
Acta Neuropathologica, 2024
A familial missense variant in the Alzheimer's Disease gene SORL1 impairs its maturation and endosomal sorting.
Fazeli E et al.
Biorxiv : the Preprint Server for Biology, 2023
Genetic analysis of Vietnamese patients with early-onset Alzheimer's disease.
Tong TM et al.
The International Journal of Neuroscience, 2022
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