PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype

Imaging of vascular cognitive impairment

(2021) Ahmed Abdel Khalek Abdel Razek et al.   CLINICAL IMAGING

Late‐onset presentation and phenotypic heterogeneity of the rare R377W PSEN1 mutation

(2020) M. Scarioni et al.   EUROPEAN JOURNAL OF NEUROLOGY

Cerebral amyloid angiopathy and Alzheimer disease — one peptide, two pathways

(2019) Steven M. Greenberg et al.   Nature Reviews Neurology

The French Series of Autosomal Dominant Early Onset Alzheimer's Disease Cases: Mutation Spectrum and Cerebrospinal Fluid Biomarkers

(2018) David Wallon et al.   JOURNAL OF ALZHEIMERS DISEASE

VarSome: the human genomic variant search engine

(2018) Christos Kopanos et al.   BIOINFORMATICS

A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome

(2018) Massimiliano Filosto et al.   Journal of Clinical Medicine

Interaction between cerebrovascular disease and Alzheimer pathology

(2016) Satoshi Saito et al.   CURRENT OPINION IN PSYCHIATRY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Atypical presentation of a novel Presenilin 1 R377W mutation: sporadic, late-onset Alzheimer disease with epilepsy and frontotemporal atrophy

(2011) Barbara Borroni et al.   NEUROLOGICAL SCIENCES