Associated Papers
Generation of two isogenic-corrected control cell lines (IRMBi001-A-1; IRMBi001-A-2) from Autosomal dominant Alzheimer's disease patient-derived iPSCs carrying a G217D mutation in presenilin 1 gene.
Clua Provost C et al.
Stem Cell Research, 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
A Novel Pathogenic PSEN1 Variant in a Patient With Dystonia-Parkinsonism Without Dementia.
Malaguti MC et al.
Journal of Movement Disorders, 2024
Generation of induced pluripotent stem cell lines IRMBi003-A and IRMBi003-B from a healthy donor to model Alzheimer's disease.
Clua Provost C et al.
Stem Cell Research, 2023
Parkinsonism in complex neurogenetic disorders: lessons from hereditary dementias, adult-onset ataxias and spastic paraplegias.
Aloisio S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
PSEN1 G417S mutation in a Chinese pedigree causing early-onset parkinsonism with cognitive impairment.
Jiang L et al.
Neurobiology of Aging, 2022
A heterozygous de novo PSEN1 mutation in a patient with early-onset parkinsonism.
Chen Y et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.
Kalaria RN et al.
The American Journal of Pathology, 2021
Induced pluripotent stem cells (iPSCs) as game-changing tools in the treatment of neurodegenerative disease: Mirage or reality?
Yousefi N et al.
Journal of Cellular Physiology, 2020
Diffuse Lewy Body Disease and Alzheimer Disease: Neuropathologic Phenotype Associated With the PSEN1 p.A396T Mutation.
Gondim DD et al.
Journal of Neuropathology and Experimental Neurology, 2019
Young adult-onset, very slowly progressive cognitive decline with spastic paraparesis in Alzheimer's disease with cotton wool plaques due to a novel presenilin1 G417S mutation.
Miki T et al.
Acta Neuropathologica Communications, 2019
Generation of induced pluripotent stem cells (IRMBi001-A) from an Alzheimer's disease patient carrying a G217D mutation in the PSEN1 gene.
Auboyer L et al.
Stem Cell Research, 2019
Dopa Responsive Parkinsonism in an Early Onset Alzheimer's Disease Patient with a Presenilin 1 Mutation (A434T).
Jo H et al.
Journal of Alzheimer's Disease : Jad, 2019
Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer's Disease Before 51 Years.
Lacour M et al.
Journal of Alzheimer's Disease : Jad, 2019
Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.
Ibanez L et al.
Frontiers in Neuroscience, 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
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.
Carecchio M et al.
Neurogenetics, 2017
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
Lanoiselée HM et al.
Plos Medicine, 2017
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
Corticobasal Syndrome in a Family with Early-Onset Alzheimer's Disease Linked to a Presenilin-1 Gene Mutation.
Navarro E et al.
Movement Disorders Clinical Practice, 2015
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
Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.
Kasuga K et al.
Journal of Human Genetics, 2015
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
The genetics and neuropathology of Alzheimer's disease.
Schellenberg GD et al.
Acta Neuropathologica, 2012
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
Carbon-11-Pittsburgh compound B positron emission tomography imaging of amyloid deposition in presenilin 1 mutation carriers.
Knight WD et al.
Brain : a Journal of Neurology, 2011
Brain pathology in three subjects from the same pedigree with presenilin-1 (PSEN1) P264L mutation.
Martikainen P et al.
Neuropathology and Applied Neurobiology, 2010
Correlating familial Alzheimer's disease gene mutations with clinical phenotype.
Ryan NS et al.
Biomarkers in Medicine, 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
Presenilin1 G217R mutation linked to Alzheimer disease with cotton wool plaques.
Norton JB et al.
Neurology, 2009
[Alzheimer disease: autosomal dominant forms].
Guyant-Maréchal L et al.
Revue Neurologique, 2009
Cytoskeletal alterations differentiate presenilin-1 and sporadic Alzheimer's disease.
Woodhouse A et al.
Acta Neuropathologica, 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
PET amyloid ligand [11C]PIB uptake shows predominantly striatal increase in variant Alzheimer's disease.
Koivunen J et al.
Brain : a Journal of Neurology, 2008
Variable phenotype of Alzheimer's disease with spastic paraparesis.
Karlstrom H et al.
Journal of Neurochemistry, 2008
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
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism.
Jimenez-Escrig A et al.
European Journal of Neurology, 2004
Pathological and clinical heterogeneity of presenilin 1 gene mutations.
Menéndez M
Journal of Alzheimer's Disease : Jad, 2004
Clinicopathological investigation of vascular parkinsonism, including clinical criteria for diagnosis.
Zijlmans JC et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2004
[Alzheimer's disease due to presenilin mutations].
Tabira T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2004
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