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
Comorbidities in early-onset sporadic versus presenilin-1 mutation-associated Alzheimer disease dementia: Evidence for dependency on Alzheimer disease neuropathological changes.
Sepulveda-Falla D et al.
Journal of Neuropathology and Experimental Neurology, 2025
Presenilin: A Multi-Functional Molecule in the Pathogenesis of Alzheimer's Disease and Other Neurodegenerative Diseases.
Sun Y et al.
International Journal of Molecular Sciences, 2024
Comorbidities in Early-Onset Sporadic versus Presenilin-1 Mutation-Associated Alzheimer's Disease Dementia: Evidence for Dependency on Alzheimer's Disease Neuropathological Changes.
Sepulveda-Falla D et al.
Medrxiv : the Preprint Server for Health Sciences, 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
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
An internal docking site stabilizes substrate binding to γ-secretase: Analysis by molecular dynamics simulations.
Chen SY et al.
Biophysical Journal, 2022
Spinocerebellar Ataxia-Like Presentation of the M233V PSEN1 Mutation.
Seliverstov Y et al.
Cerebellum (london, England), 2020
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
PSEN1, PSEN2, and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease.
Jia L et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 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
Diagnostic Approach of Early-Onset Dementia with Negative Family History: Implications from Two Cases of Early-Onset Alzheimer's Disease with De Novo PSEN1 Mutation.
Liu J et al.
Journal of Alzheimer's Disease : Jad, 2019
PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.
Appel-Cresswell S et al.
Journal of Movement Disorders, 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
Characterizing familial corticobasal syndrome due to Alzheimer's disease pathology and PSEN1 mutations.
Lam B et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2017
PSEN1 L226F mutation in a patient with early-onset Alzheimer's disease in Korea.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
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
Identification of PSEN1 mutations p.M233L and p.R352C in Han Chinese families with early-onset familial Alzheimer's disease.
Jiang HY et al.
Neurobiology of Aging, 2015
Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.
Ringman JM et al.
Current Neurology and Neuroscience Reports, 2014
Relative ratio and level of amyloid-β 42 surrogate in cerebrospinal fluid of familial Alzheimer disease patients with presenilin 1 mutations.
Tagami S et al.
Neuro-degenerative Diseases, 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
Cerebrospinal fluid levels of phosphorylated tau and Aβ1-38/Aβ1-40/Aβ1-42 in Alzheimer's disease with PS1 mutations.
Ikeda M et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 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
Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.
Guerreiro RJ et al.
Neurobiology of Aging, 2010
The 28-amino acid form of an APLP1-derived Abeta-like peptide is a surrogate marker for Abeta42 production in the central nervous system.
Yanagida K et al.
Embo Molecular Medicine, 2009
[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
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
Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios.
Walker ES et al.
Journal of Neurochemistry, 2005
Pathological and clinical heterogeneity of presenilin 1 gene mutations.
Menéndez M
Journal of Alzheimer's Disease : Jad, 2004
[Alzheimer's disease due to presenilin mutations].
Tabira T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2004
Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu).
Portet F et al.
Neurology, 2003
A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies.
Houlden H et al.
Neuroscience Letters, 2001
[Dominant forms of Alzheimer's disease: from genotype to phenotype].
Hannequin D et al.
Revue Neurologique, 2001
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
Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations.
Mendez MF et al.
American Journal of Alzheimer's Disease and Other Dementias, 0
Corticobasal syndrome: A diagnostic conundrum.
Parmera JB et al.
Dementia & Neuropsychologia, 0
Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications.
Colijn MA et al.
Alzheimer Disease and Associated Disorders, 0