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
Mutational Landscape of Alzheimer's Disease and Frontotemporal Dementia: Regional Variances in Northern, Central, and Southern Italy.
Saraceno C et al.
International Journal of Molecular Sciences, 2024
Very Early Onset Familial Alzheimer's Disease Due to Mutation in PSEN1 I143T - First Case Report from South Asia.
Anandan S et al.
Neurology India, 2024
Intervention of next-generation sequencing in diagnosis of Alzheimer's disease: challenges and future prospects.
Chandy T
Dementia & Neuropsychologia, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases.
Bruno F et al.
Biomedicines, 2022
Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.
Kalaria RN et al.
The American Journal of Pathology, 2021
Aβ42/Aβ40 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer's Disease.
Tang N et al.
Journal of Alzheimer's Disease : Jad, 2018
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
Sun L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.
Li N et al.
Frontiers in Aging Neuroscience, 2016
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Clinical genetics of Alzheimer's disease.
Zou Z et al.
Biomed Research International, 2014
A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features.
Gallo M et al.
Journal of Alzheimer's Disease : Jad, 2011
Primary Progressive Aphasia: Natural History in an Italian Cohort.
Ferrari C et al.
Alzheimer Disease and Associated Disorders, 0
Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications.
Colijn MA et al.
Alzheimer Disease and Associated Disorders, 0