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
A Novel Pathogenic PSEN1 Variant in a Patient With Dystonia-Parkinsonism Without Dementia.
Malaguti MC et al.
Journal of Movement Disorders, 2024
The Use of Zebrafish in Transcriptome Analysis of the Early Effects of Mutations Causing Early Onset Familial Alzheimer's Disease and Other Inherited Neurodegenerative Conditions.
Lardelli M et al.
Journal of Alzheimer's Disease : Jad, 2024
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2023
Protein Structure Prediction for Disease-Related Insertions/Deletions in Presenilin 1 Gene.
Avramouli A et al.
Advances in Experimental Medicine and Biology, 2023
An Alternative View of Familial Alzheimer's Disease Genetics.
Lardelli M
Journal of Alzheimer's Disease : Jad, 2023
PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2022
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
A heterozygous de novo PSEN1 mutation in a patient with early-onset parkinsonism.
Chen Y et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.
Kalaria RN et al.
The American Journal of Pathology, 2021
PRESENILIN 1 Mutations Causing Early-Onset Familial Alzheimer's Disease or Familial Acne Inversa Differ in Their Effects on Genes Facilitating Energy Metabolism and Signal Transduction.
Barthelson K et al.
Journal of Alzheimer's Disease : Jad, 2021
Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa.
You C et al.
Frontiers in Neurology, 2020
Mutational re-modeling of di-aspartyl intramembrane proteases: uncoupling physiologically-relevant activities from those associated with Alzheimer's disease.
Grigorenko AP et al.
Oncotarget, 2017
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
Novel Presenilin-1 Mutation (Ala275Ser) Associated With Clinical Features of Dementia With Lewy Bodies.
Joshi P et al.
Alzheimer Disease and Associated Disorders, 0