Associated Papers
Case Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer's Disease.
Xia Y et al.
Neurology and Therapy, 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
A Novel Pathogenic PSEN1 Variant in a Patient With Dystonia-Parkinsonism Without Dementia.
Malaguti MC et al.
Journal of Movement Disorders, 2024
37704566 (PubMed )
Supplement: jmd-23125-Supplementary-Table-1.pdf
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2023
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
A Case of Early-Onset Alzheimer's Disease Mimicking Schizophrenia in a Patient with Presenilin 1 Mutation (S170P).
Kim HR et al.
Journal of Alzheimer's Disease : Jad, 2021
A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.
Van Giau V et al.
Bmc Neurology, 2019
The role of de novo mutations in adult-onset neurodegenerative disorders.
Nicolas G et al.
Acta Neuropathologica, 2019
30478624 (PubMed )
Supplement: 401_2018_1939_MOESM1_ESM.xlsx › Supp_Table_1_AD
Diagnostic Approach of Early-Onset Dementia with Negative Family History: Implications from Two Cases of Early-Onset Alzheimer's Disease with De Novo PSEN1 Mutation.
Liu J et al.
Journal of Alzheimer's Disease : Jad, 2019
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.
Carecchio M et al.
Neurogenetics, 2017
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Olsen RKJ et al.
American Journal of Human Genetics, 2016
Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications.
Colijn MA et al.
Alzheimer Disease and Associated Disorders, 0
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