Associated Papers
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
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Hsu S et al.
Neurobiology of Disease, 2020
A presenilin 1 mutation in the first case of Alzheimer's disease: revisited.
Rupp C et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2014
Tau pathology and neurodegeneration.
Spillantini MG et al.
The Lancet. Neurology, 2013
A presenilin 1 mutation in the first case of Alzheimer's disease.
Müller U et al.
The Lancet. Neurology, 2013
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
Clinical, biological, and imaging features of monogenic Alzheimer's Disease.
Pilotto A et al.
Biomed Research International, 2013
Identification of gamma-secretase inhibitor potency determinants on presenilin.
Zhao B et al.
The Journal of Biological Chemistry, 2008
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