Associated Papers
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Merkevicius K et al.
Brain : a Journal of Neurology, 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
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
Alzheimer-mutant γ-secretase complexes stall amyloid β-peptide production.
Arafi P et al.
Elife, 2025
Molecular neuroimaging in dominantly inherited versus sporadic early-onset Alzheimer's disease.
Iaccarino L et al.
Brain Communications, 2024
Gerstmann-Sträussler-Scheinker Disease with F198S Mutation Induces Independent Tau and Prion Protein Pathologies in Bank Voles.
Bruno R et al.
Biomolecules, 2022
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.
Qin Q et al.
Molecular Genetics & Genomic Medicine, 2020
A presenilin-1 mutation causes Alzheimer disease without affecting Notch signaling.
Zhang S et al.
Molecular Psychiatry, 2020
Seizures as an early symptom of autosomal dominant Alzheimer's disease.
Vöglein J et al.
Neurobiology of Aging, 2019
Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1.
Tiedt HO et al.
Neuro-degenerative Diseases, 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 susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.
Santos BPD et al.
Plos One, 2017
Changes in the plasma proteome at asymptomatic and symptomatic stages of autosomal dominant Alzheimer's disease.
Muenchhoff J et al.
Scientific Reports, 2016
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
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
Association between variant amyloid deposits and motor deficits in FAD-associated presenilin-1 mutations: A systematic review.
Zhang S et al.
Neuroscience and Biobehavioral Reviews, 2015
Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.
Ringman JM et al.
Current Neurology and Neuroscience Reports, 2014
A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia.
Testi S et al.
Journal of Alzheimer's Disease : Jad, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Antisense reduction of tau in adult mice protects against seizures.
DeVos SL et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013
Early-onset familial Alzheimer's disease related to presenilin 1 mutation resembling autosomal dominant spinocerebellar ataxia.
Braga-Neto P et al.
Journal of Neurology, 2013
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
Presenilin-1 mutation Alzheimer's disease: a genetic epilepsy syndrome?
Larner AJ
Epilepsy & Behavior : E&b, 2011
Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features.
Giaccone G et al.
Acta Neuropathologica, 2010
Correlating familial Alzheimer's disease gene mutations with clinical phenotype.
Ryan NS et al.
Biomarkers in Medicine, 2010
A novel presenilin 1 mutation (Ser169del) in a Chinese family with early-onset Alzheimer's disease.
Guo J et al.
Neuroscience Letters, 2010
Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene.
Golan MP et al.
Experimental Neurology, 2007
The genetics of very early onset Alzheimer disease.
Filley CM et al.
Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology, 2007
Differences in regional brain atrophy in genetic forms of Alzheimer's disease.
Gregory GC et al.
Neurobiology of Aging, 2006
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Pathological and clinical heterogeneity of presenilin 1 gene mutations.
Menéndez M
Journal of Alzheimer's Disease : Jad, 2004
CA1 hippocampal neuronal loss in familial Alzheimer's disease presenilin-1 E280A mutation is related to epilepsy.
Velez-Pardo C et al.
Epilepsia, 2004
Characterization of presenilin complexes from mouse and human brain using Blue Native gel electrophoresis reveals high expression in embryonic brain and minimal change in complex mobility with pathogenic presenilin mutations.
Culvenor JG et al.
European Journal of Biochemistry, 2004
[Alzheimer's disease due to presenilin mutations].
Tabira T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2004
Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation.
Goldman JS et al.
International Journal of Geriatric Psychiatry, 2002
Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population.
Taddei K et al.
Molecular Psychiatry, 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
Alteration of the serotonergic nervous system in fatal familial insomnia.
Wanschitz J et al.
Annals of Neurology, 2000
DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations.
Aldudo J et al.
Human Mutation, 1999
Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease.
Taddei K et al.
Neuroreport, 1998
Spheroid-cytoplasmic complexes in a congenital myopathy.
Halbig L et al.
Revue Neurologique, 1991