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
In Silico Structural Analysis Exploring Conformational Folding of Protein Variants in Alzheimer's Disease.
Efraimidis E et al.
International Journal of Molecular Sciences, 2023
Effects of presenilin-1 familial Alzheimer's disease mutations on γ-secretase activation for cleavage of amyloid precursor protein.
Do HN et al.
Communications Biology, 2023
Pattern and implications of neurological examination findings in autosomal dominant Alzheimer disease.
Vöglein J et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
11C-PiB PET can underestimate brain amyloid-β burden when cotton wool plaques are numerous.
Abrahamson EE et al.
Brain : a Journal of Neurology, 2022
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.
Acosta-Uribe J et al.
Genome Medicine, 2022
Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.
Kim M et al.
International Journal of Molecular Sciences, 2021
Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.
Kalaria RN et al.
The American Journal of Pathology, 2021
Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease.
Chelban V et al.
Alzheimer's & Dementia (amsterdam, Netherlands), 2021
Protein Predictive Modeling and Simulation of Mutations of Presenilin-1 Familial Alzheimer's Disease on the Orthosteric Site.
Soto-Ospina A et al.
Frontiers in Molecular Biosciences, 2021
Pathogenic Aβ generation in familial Alzheimer's disease: novel mechanistic insights and therapeutic implications.
Trambauer J et al.
Current Opinion in Neurobiology, 2020
Aβ43-producing PS1 FAD mutants cause altered substrate interactions and respond to γ-secretase modulation.
Trambauer J et al.
Embo Reports, 2020
A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.
Yu AC et al.
Frontiers in Neuroscience, 2019
Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.
Karch CM et al.
Alzheimer's Research & Therapy, 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
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
Abstracts of the IX Congresso Sindem: Italian Association for the study of Dementia linked to the Italian Neurological Society (SIN), March 13-15, 2014, Florence, Italy.
Bonavita V et al.
Journal of Alzheimer's Disease : Jad, 2014
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
Presenilins function in ER calcium leak and Alzheimer's disease pathogenesis.
Supnet C et al.
Cell Calcium, 2011
Presenilins as endoplasmic reticulum calcium leak channels and Alzheimer's disease pathogenesis.
Supnet C et al.
Science China. Life Sciences, 2011
gamma-secretases: from cell biology to therapeutic strategies.
Bergmans BA et al.
The Lancet. Neurology, 2010
Correlating familial Alzheimer's disease gene mutations with clinical phenotype.
Ryan NS et al.
Biomarkers in Medicine, 2010
Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.
Gómez-Tortosa E et al.
Journal of Alzheimer's Disease : Jad, 2010
Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.
Nelson O et al.
Journal of Alzheimer's Disease : Jad, 2010
Caspase-6 activation in familial alzheimer disease brains carrying amyloid precursor protein or presenilin i or presenilin II mutations.
Albrecht S et al.
Journal of Neuropathology and Experimental Neurology, 2009
[Alzheimer disease: autosomal dominant forms].
Guyant-Maréchal L et al.
Revue Neurologique, 2009
Histopathological and molecular heterogeneity among individuals with dementia associated with Presenilin mutations.
Maarouf CL et al.
Molecular Neurodegeneration, 2008
A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer's disease and spastic paraparesis.
Jiménez Caballero PE et al.
European Journal of Neurology, 2008
Variable phenotype of Alzheimer's disease with spastic paraparesis.
Karlstrom H et al.
Journal of Neurochemistry, 2008
Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.
Dumanchin C et al.
Human Mutation, 2006
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Amino-terminally truncated Abeta peptide species are the main component of cotton wool plaques.
Miravalle L et al.
Biochemistry, 2005
New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism.
Jimenez-Escrig A et al.
European Journal of Neurology, 2004
A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.
Hattori S et al.
Neuroscience Letters, 2004
[Familial forms of Alzheimer's disease].
Maréchal L et al.
Presse Medicale (paris, France : 1983), 2003
Early-onset Alzheimer's disease with presenilin-1 M139V mutation: clinical, neuropsychological and neuropathological study.
Larner AJ et al.
European Journal of Neurology, 2003
A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum.
Takao M et al.
Acta Neuropathologica, 2002
Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures.
Takao M et al.
Journal of Neuropathology and Experimental Neurology, 2001
[Dominant forms of Alzheimer's disease: from genotype to phenotype].
Hannequin D et al.
Revue Neurologique, 2001