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
Clinical considerations in early-onset cerebral amyloid angiopathy.
Banerjee G et al.
Brain : a Journal of Neurology, 2023
Familial Alzheimer's disease-associated PSEN1 mutations affect neurodevelopment through increased Notch signaling.
Hurley EM et al.
Stem Cell Reports, 2023
Amyloid precursor protein 𝛽CTF accumulates in synapses in sporadic and genetic forms of Alzheimer's disease.
Ferrer-Raventós P et al.
Neuropathology and Applied Neurobiology, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.
Kalaria RN et al.
The American Journal of Pathology, 2021
Assessing circular RNAs in Alzheimer's disease and frontotemporal lobar degeneration.
Cervera-Carles L et al.
Neurobiology of Aging, 2020
Pathogenic Aβ generation in familial Alzheimer's disease: novel mechanistic insights and therapeutic implications.
Trambauer J et al.
Current Opinion in Neurobiology, 2020
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
Regional patterns of 18F-florbetaben uptake in presenilin 1 mutation carriers.
Sala-Llonch R et al.
Neurobiology of Aging, 2019
Serum neurofilament light levels correlate with severity measures and neurodegeneration markers in autosomal dominant Alzheimer's disease.
Sánchez-Valle R 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
Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease.
Carmona-Iragui M et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2017
Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia.
Park J et al.
Neurobiology of Aging, 2017
The effects of different familial Alzheimer's disease mutations on APP processing in vivo.
Thordardottir S et al.
Alzheimer's Research & Therapy, 2017
White Matter Abnormalities Track Disease Progression in PSEN1 Autosomal Dominant Alzheimer's Disease.
Sánchez-Valle R et al.
Journal of Alzheimer's Disease : Jad, 2016
Qualitative changes in human γ-secretase underlie familial Alzheimer's disease.
Szaruga M et al.
The Journal of Experimental Medicine, 2015
Evolving brain structural changes in PSEN1 mutation carriers.
Sala-Llonch R et al.
Neurobiology of Aging, 2015
Large APP locus duplication in a sporadic case of cerebral haemorrhage.
Lladó A et al.
Neurogenetics, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease.
Pera M et al.
Acta Neuropathologica, 2013
Evolving brain functional abnormalities in PSEN1 mutation carriers: a resting and visual encoding fMRI study.
Sala-Llonch R et al.
Journal of Alzheimer's Disease : Jad, 2013
The amyloid-β isoform pattern in cerebrospinal fluid in familial PSEN1 M139T- and L286P-associated Alzheimer's disease.
Portelius E et al.
Molecular Medicine Reports, 2012
PSEN1 mutation carriers present lower cerebrospinal fluid amyoid-β42 levels than sporadic early-onset Alzheimer's disease patients but no differences in neuronal injury biomarkers.
Balasa M et al.
Journal of Alzheimer's Disease : Jad, 2012
Cerebrospinal fluid biomarkers in Alzheimer's disease families with PSEN1 mutations.
Fortea J et al.
Neuro-degenerative Diseases, 2011
Increased cortical thickness and caudate volume precede atrophy in PSEN1 mutation carriers.
Fortea J et al.
Journal of Alzheimer's Disease : Jad, 2010
[Alzheimer disease: autosomal dominant forms].
Guyant-Maréchal L et al.
Revue Neurologique, 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
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
A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas.
Sánchez-Valle R et al.
European Journal of Neurology, 2007
[Dominant forms of Alzheimer's disease: from genotype to phenotype].
Hannequin D et al.
Revue Neurologique, 2001
[New mutation in the PSEN1 (E120G) gene associated with early onset Alzheimer's disease].
Lladó A et al.
Neurologia (barcelona, Spain), 0