Associated Papers
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.
Podleśny-Drabiniok A et al.
Cell Reports, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Mitochondrial dynamics and bioenergetics in Alzheimer's induced pluripotent stem cell-derived neurons.
MacMullen C et al.
Brain : a Journal of Neurology, 2025
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Frequency of Variants in Mendelian Alzheimer's Disease Genes within the Alzheimer's Disease Sequencing Project (ADSP).
Wang D 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
Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.
Petit D et al.
Molecular Psychiatry, 2022
Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.
Perrone F et al.
Genome Medicine, 2021
CD33 and SIGLECL1 Immunoglobulin Superfamily Involved in Dementia.
Rendina A et al.
Journal of Neuropathology and Experimental Neurology, 2020
Insights into membrane-bound presenilin 2 from all-atom molecular dynamics simulations.
Dehury B et al.
Journal of Biomolecular Structure & Dynamics, 2020
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Hsu S et al.
Neurobiology of Disease, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Identification of missing variants by combining multiple analytic pipelines.
Ren Y et al.
Bmc Bioinformatics, 2018
The genetics of dementia with Lewy bodies.
Tolea MI et al.
Handbook of Clinical Neurology, 2018
Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.
Fernández MV et al.
Plos Genetics, 2017
An update on the genetics of dementia with Lewy bodies.
Vergouw LJM et al.
Parkinsonism & Related Disorders, 2017
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 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
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
Familial Alzheimer's disease sustained by presenilin 2 mutations: systematic review of literature and genotype-phenotype correlation.
Canevelli M et al.
Neuroscience and Biobehavioral Reviews, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Previously unrecognized missense mutation E126K of PSEN2 segregates with early onset Alzheimer's disease in a family.
Müller U et al.
Journal of Alzheimer's Disease : Jad, 2014
Clinical, biological, and imaging features of monogenic Alzheimer's Disease.
Pilotto A et al.
Biomed Research International, 2013
APP mutations in the Aβ coding region are associated with abundant cerebral deposition of Aβ38.
Moro ML et al.
Acta Neuropathologica, 2012
Presenilin-2 gene mutation presenting as Lewy body dementia?
Raciti L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2011
Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features.
Giaccone G et al.
Acta Neuropathologica, 2010
Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.
Jayadev S et al.
Brain : a Journal of Neurology, 2010
Correlating familial Alzheimer's disease gene mutations with clinical phenotype.
Ryan NS et al.
Biomarkers in Medicine, 2010
A novel mutation in the predicted TMIII domain of the PSEN2 gene in an Italian pedigree with atypical Alzheimer's disease.
Piscopo P et al.
Journal of Alzheimer's Disease : Jad, 2010
A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.
Marcon G et al.
Journal of Alzheimer's Disease : Jad, 2009
A novel PSEN2 mutation associated with a peculiar phenotype.
Piscopo P et al.
Neurology, 2008
Genetic Association between Presenilin 2 Polymorphisms and Alzheimer's Disease and Dementia of Lewy Body Type in a Japanese Population.
Suzuki A et al.
Dementia and Geriatric Cognitive Disorders Extra, 0
Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications.
Colijn MA et al.
Alzheimer Disease and Associated Disorders, 0