Associated Papers
The Curious Case of a Heterozygous Loss-of-Function PSEN1 variant associated with Early-Onset Alzheimer's Disease.
Sanjuan Ruiz I et al.
Research Square, 2025
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
39903689 (PubMed )
Supplement: awaf038_supplementary_data.zip › 3-Supplemental_Table2_AR_20250121_Jlli_B_Alz.pdf
The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.
Sanjuan-Ruiz I et al.
Molecular Neurodegeneration Advances, 2025
Haploinsufficiency and Alzheimer's Disease: The Possible Pathogenic and Protective Genetic Factors.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2024
Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease.
Course MM et al.
Brain : a Journal of Neurology, 2023
An Alternative View of Familial Alzheimer's Disease Genetics.
Lardelli M
Journal of Alzheimer's Disease : Jad, 2023
Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.
Kalaria RN et al.
The American Journal of Pathology, 2021
Alternative splicing in a presenilin 2 variant associated with Alzheimer disease.
Braggin JE et al.
Annals of Clinical and Translational Neurology, 2019
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