Associated Papers
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
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
Identification and characterization of variants in PSEN1, PSEN2, and APP genes in Chinese patients with early-onset Alzheimer's disease.
Nan H et al.
Alzheimer's Research & Therapy, 2025
Case of early onset Alzheimer's disease associated with a novel PSEN1 variant identified in Colombia.
Zapata-Restrepo LM et al.
Npj Dementia, 2025
Potential Modifying Effect of the APOEε4 Allele on Age of Onset and Clinical Manifestations in Patients with Early-Onset Alzheimer's Disease with and without a Pathogenic Variant in PSEN1 in a Sample of the Mexican Population.
Valdez-Gaxiola CA et al.
International Journal of Molecular Sciences, 2023
Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.
Kalaria RN et al.
The American Journal of Pathology, 2021
Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes.
Llibre-Guerra JJ et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021
A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.
Van Giau V et al.
Bmc Neurology, 2019
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
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
Disease-related mutations among Caribbean Hispanics with familial dementia.
Lee JH et al.
Molecular Genetics & Genomic Medicine, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Previously not recognized deletion in presenilin-1 (p.Leu174del.) in a patient with early-onset familial Alzheimer's disease.
Tiedt HO et al.
Neuroscience Letters, 2013
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
Clinical, biological, and imaging features of monogenic Alzheimer's Disease.
Pilotto A et al.
Biomed Research International, 2013
Attitudes and knowledge about genetic testing before and after finding the disease-causing mutation among individuals at high risk for familial, early-onset Alzheimer's disease.
Marcheco-Teruel B et al.
Genetic Testing and Molecular Biomarkers, 2009
Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.
Larner AJ et al.
Journal of Alzheimer's Disease : Jad, 2009
Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene.
Golan MP et al.
Experimental Neurology, 2007
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Chasing genes in Alzheimer's and Parkinson's disease.
Bertoli-Avella AM et al.
Human Genetics, 2004
Identification of new presenilin gene mutations in early-onset familial Alzheimer disease.
Tedde A et al.
Archives of Neurology, 2003
Attitudes and knowledge about presymptomatic genetic testing among individuals at high risk for familial, early-onset Alzheimer's disease.
Marcheco B et al.
Genetic Testing, 2003
A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease.
Bertoli Avella AM et al.
Neurogenetics, 2002
Genetics of dementia: insights from Latin America.
Ramos C et al.
Dementia & Neuropsychologia, 0