Associated Papers
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 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
Spectrum of γ-Secretase dysfunction as a unifying predictor of ADAD age at onset across PSEN1, PSEN2 and APP causal genes.
Fernández SG et al.
Molecular Neurodegeneration, 2025
The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.
Liu L et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.
Khani M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.
Liu L et al.
Biorxiv : the Preprint Server for Biology, 2024
Genome-wide association studies identify novel loci in rapidly progressive Alzheimer's disease.
Wang P et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
Contributions of rare and common variation to early-onset and atypical dementia risk.
Wright CA et al.
Cold Spring Harbor Molecular Case Studies, 2023
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2023
Contributions of rare and common variation to early-onset and atypical dementia risk.
Wright CA et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2022
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Bartoletti-Stella A et al.
Frontiers in Aging Neuroscience, 2022
Singular cases of Alzheimer's disease disclose new and old genetic "acquaintances".
Coppola C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
Guelly C et al.
Peerj, 2021
Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.
Perrone F et al.
Alzheimer's Research & Therapy, 2020
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Hsu S et al.
Neurobiology of Disease, 2020
The NGS technology for the identification of genes associated with the ALS. A systematic review.
Pecoraro V et al.
European Journal of Clinical Investigation, 2020
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
Jääskeläinen P et al.
Esc Heart Failure, 2019
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.
Minoche AE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Mutation Analysis of the Genes Linked to Early Onset Alzheimer's Disease and Frontotemporal Lobar Degeneration.
Luukkainen L et al.
Journal of Alzheimer's Disease : Jad, 2019
Genetic Markers of Alzheimer's Disease.
Nikolac Perkovic M et al.
Advances in Experimental Medicine and Biology, 2019
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
Nicolas G et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2018
Genetic screening in early-onset dementia patients with unclear phenotype: relevance for clinical diagnosis.
Perrone F et al.
Neurobiology of Aging, 2018
Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.
Karch CM et al.
Alzheimer's Research & Therapy, 2018
Identification of missing variants by combining multiple analytic pipelines.
Ren Y et al.
Bmc Bioinformatics, 2018
Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma.
Nordfors K et al.
Cold Spring Harbor Molecular Case Studies, 2018
The genetics of dementia with Lewy bodies.
Tolea MI et al.
Handbook of Clinical Neurology, 2018
Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.
Ibanez L et al.
Frontiers in Neuroscience, 2018
An update on the genetics of dementia with Lewy bodies.
Vergouw LJM et al.
Parkinsonism & Related Disorders, 2017
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
Lanoiselée HM et al.
Plos Medicine, 2017
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017
A case of possibly pathogenic PSEN2 R62C mutation in a patient with probable early-onset Alzheimer's dementia supported by structure prediction.
Park KW et al.
Clinical Interventions in Aging, 2017
Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.
Santos BPD et al.
Plos One, 2017
Presenilin Mutation Suppresses Lung Tumorigenesis via Inhibition of Peroxiredoxin 6 Activity and Expression.
Park MH et al.
Theranostics, 2017
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.
Nicolas G et al.
European Journal of Human Genetics : Ejhg, 2016
Exome sequencing in dementia with Lewy bodies.
Keogh MJ et al.
Translational Psychiatry, 2016
Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.
Schulte EC et al.
European Journal of Human Genetics : Ejhg, 2015
Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.
Cai Y et al.
Clinical Interventions in Aging, 2015
Alzheimer's disease genetics: from the bench to the clinic.
Karch CM et al.
Neuron, 2014