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
Frequency of variants in Mendelian Alzheimer's disease genes within the Alzheimer's Disease Sequencing Project.
Wang D et al.
Journal of Alzheimer's Disease : Jad, 2025
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
Clinical and genetic characteristics in a central-southern Chinese cohort of early-onset Alzheimer's disease.
Liang Z et al.
Frontiers in Neurology, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
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
PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.
Orozco-Barajas M et al.
Frontiers in Aging Neuroscience, 2022
Reaction time and response inhibition in autosomal dominant Alzheimer's disease.
Medina LD et al.
Brain and Cognition, 2021
Fluid Biomarkers and APOE Status of Early Onset Alzheimer's Disease Variants: A Systematic Review and Meta-Analysis.
Kaur G et al.
Journal of Alzheimer's Disease : Jad, 2020
Historical Migration revealed through a Case of Autosomal Dominant Alzheimer's Disease.
Poblete J et al.
Puerto Rico Health Sciences Journal, 2019
1H MRS spectroscopy in preclinical autosomal dominant Alzheimer disease.
Joe E et al.
Brain Imaging and Behavior, 2019
Impairment of memory generalization in preclinical autosomal dominant Alzheimer's disease mutation carriers.
Petok JR et al.
Neurobiology of Aging, 2018
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
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
Ryan NS et al.
The Lancet. Neurology, 2016
Memory binding and white matter integrity in familial Alzheimer's disease.
Parra MA et al.
Brain : a Journal of Neurology, 2015
Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.
Ringman JM et al.
Current Neurology and Neuroscience Reports, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Regional brain volume differences in symptomatic and presymptomatic carriers of familial Alzheimer's disease mutations.
Lee GJ et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2013
Genetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations.
Scahill RI et al.
Journal of Alzheimer's Disease : Jad, 2013
Plasma signaling proteins in persons at genetic risk for Alzheimer disease: influence of APOE genotype.
Ringman JM et al.
Archives of Neurology, 2012
Increased fMRI signal with age in familial Alzheimer's disease mutation carriers.
Braskie MN et al.
Neurobiology of Aging, 2012
Alzheimer disease-related presenilin-1 variants exert distinct effects on monoamine oxidase-A activity in vitro.
Pennington PR et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2011
A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.
Antonell A et al.
Neuroscience Letters, 2011
Clinical and genetic analysis of a Chilean family with early-onset autosomal dominant Alzheimer's disease.
Sinning M et al.
Journal of Alzheimer's Disease : Jad, 2010
Cortical event-related potentials in preclinical familial Alzheimer disease.
Golob EJ et al.
Neurology, 2009
Performance on MMSE sub-items and education level in presenilin-1 mutation carriers without dementia.
Ringman JM et al.
International Psychogeriatrics, 2007
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Female preclinical presenilin-1 mutation carriers unaware of their genetic status have higher levels of depression than their non-mutation carrying kin.
Ringman JM et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2004
Early onset familial Alzheimer's disease: Mutation frequency in 31 families.
Janssen JC et al.
Neurology, 2003