Associated Papers
The PSEN1 E280G mutation leads to increased amyloid-β43 production in induced pluripotent stem cell neurons and deposition in brain tissue.
Willumsen N et al.
Brain Communications, 2023
How understudied populations have contributed to our understanding of Alzheimer's disease genetics.
Dehghani N et al.
Brain : a Journal of Neurology, 2021
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
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
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
Variant Alzheimer disease with spastic paraparesis: a rare presenilin-1 mutation.
Pettersen JA et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2011
gamma-secretases: from cell biology to therapeutic strategies.
Bergmans BA et al.
The Lancet. Neurology, 2010
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier.
Rogaeva E et al.
Neurology, 2003
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