A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family

APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease

(2019) Vo Van Giau et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Two Novel Mutations in the First Transmembrane Domain of Presenilin1 Cause Young-Onset Alzheimer’s Disease

(2017) Collin Y. Liu et al.   JOURNAL OF ALZHEIMERS DISEASE

The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family

(2017) Maura Gallo et al.   NEUROBIOLOGY OF AGING

Clinical heterogeneity in familial Alzheimer’s disease

(2016) Wiesje M Van der Flier   LANCET NEUROLOGY

Mutations, associated with early-onset Alzheimer’s disease, discovered in Asian countries

(2016) Eva Bagyinszky et al.   Clinical Interventions in Aging

Gene panels and primers for next generation sequencing studies on neurodegenerative disorders

(2015) Vo Van Giau et al.   Molecular & Cellular Toxicology

Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease

(2015) Afef Achouri-Rassas et al.   NEUROBIOLOGY OF AGING

Presenilin-1 Knockin Mice Reveal Loss-of-Function Mechanism for Familial Alzheimer’s Disease

(2015) Dan Xia et al.   NEURON

Symptom onset in autosomal dominant Alzheimer disease: A systematic review and meta-analysis

(2014) D. C. Ryman et al.   NEUROLOGY

The genetics of Alzheimer's disease

(2014) Eva Bagyinszky et al.   Clinical Interventions in Aging

Cerebrospinal fluid levels of phosphorylated tau and Aβ1-38/Aβ1-40/Aβ1-42 in Alzheimer’s disease with PS1 mutations

(2013) Masaki Ikeda et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Rare autosomal copy number variations in early-onset familial Alzheimer’s disease

(2013) B V Hooli et al.   MOLECULAR PSYCHIATRY

Template-based protein structure modeling using the RaptorX web server

(2012) Morten Källberg et al.   Nature Protocols

Mutation Analysis of the Presenilin 1 N-terminal Domain Reveals a Broad Spectrum of γ-Secretase Activity toward Amyloid Precursor Protein and Other Substrates

(2010) Ping Gong et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

(2008) Rita Joao Guerreiro et al.   NEUROBIOLOGY OF AGING