Associated Papers
Novel Association of the Presenilin-1 (Leu282Arg) Mutation with Isolated Spastic Paraparesis: Case Presentation and Review of Current Evidence.
De la Sen-Domínguez M et al.
Journal of Clinical Medicine, 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
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2023
Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease.
Chelban V et al.
Alzheimer's & Dementia (amsterdam, Netherlands), 2021
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 compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
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
Clinical, biological, and imaging features of monogenic Alzheimer's Disease.
Pilotto A et al.
Biomed Research International, 2013
Early-onset familial Alzheimer's disease (EOFAD).
Wu L et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2012
Presenilin-1 mutation Alzheimer's disease: a genetic epilepsy syndrome?
Larner AJ
Epilepsy & Behavior : E&b, 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
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
The molecular link between beta- and gamma-secretase activity on the amyloid beta precursor protein.
Tabaton M et al.
Cellular and Molecular Life Sciences : Cmls, 2007
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
A novel presenilin 1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimer's disease.
Pantieri R et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2005
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
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
[Alzheimer's disease due to presenilin mutations].
Tabira T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2004
[Familial forms of Alzheimer's disease].
Maréchal L et al.
Presse Medicale (paris, France : 1983), 2003
Pure spastic paraparesis associated with a novel presenilin 1 R278K mutation.
Assini A et al.
Neurology, 2003
Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile).
Sodeyama N et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2001