Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa

Presenilin 1 Regulates [Ca2+]i and Mitochondria/ER Interaction in Cultured Rat Hippocampal Neurons

(2019) Eduard Korkotian et al.   Oxidative Medicine and Cellular Longevity

Progressive spatial memory impairment, brain amyloid deposition and changes in serum amyloid levels as a function of age in APPswe/PS1dE9 mice

(2018) Lu Fu et al.   Current Alzheimer Research

CARASIL, a rare genetic cause of stroke in the young

(2018) Navalli Devaraddi et al.   NEUROLOGY INDIA

Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives

(2018) Marina França Dias et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Presenilin regulates retinotectal synapse formation through EphB2 receptor processing

(2018) Zhenyu Liu et al.   Developmental Neurobiology

A novel PSEN1 (S230N) mutation causing early-onset Alzheimer’s Disease associated with prosopagnosia, hoarding, and Parkinsonism

(2017) John M. Ringman et al.   NEUROSCIENCE LETTERS

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

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

(2015) Dan Xia et al.   NEURON

Partial Loss of Presenilin Impairs Age-Dependent Neuronal Survival in the Cerebral Cortex

(2014) H. Watanabe et al.   JOURNAL OF NEUROSCIENCE

Presenilins regulate calcium homeostasis and presynaptic function via ryanodine receptors in hippocampal neurons

(2013) B. Wu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The genetics and neuropathology of Alzheimer’s disease

(2012) Gerard D. Schellenberg et al.   ACTA NEUROPATHOLOGICA

MR, 18F-FDG, and 18F-AV45 PET Correlate With AD PSEN1 Original Phenotype

(2012) Laure Saint-Aubert et al.   ALZHEIMER DISEASE & ASSOCIATED DISORDERS

Pelizaeus-Merzbacher disease as a chromosomal disorder

(2012) Toshiyuki Yamamoto et al.   CONGENITAL ANOMALIES

Leukodystrophies with late disease onset: an update

(2010) Wolfgang Köhler   CURRENT OPINION IN NEUROLOGY

Untreated recurrent acute necrotising encephalopathy associated with RANBP2 mutation, and normal outcome in a Caucasian boy

(2010) Ne-Ron Loh et al.   EUROPEAN JOURNAL OF PEDIATRICS

Presenilins: Members of the γ-Secretase Quartets, But Part-Time Soloists Too

(2008) Tomoko Wakabayashi et al.   PHYSIOLOGY