A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome

Accelerated epigenetic aging in Down syndrome

(2015) Steve Horvath et al.   AGING CELL

Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States

(2015) Gert de Graaf et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Age dependence of brain  -amyloid deposition in Down syndrome: An [18F]florbetaben PET study

(2015) D. Jennings et al.   NEUROLOGY

"Noncognitive" symptoms of early Alzheimer disease: A longitudinal analysis

(2015) M. C. Masters et al.   NEUROLOGY

Brief Report: Isogenic Induced Pluripotent Stem Cell Lines From an Adult With Mosaic Down Syndrome Model Accelerated Neuronal Ageing and Neurodegeneration

(2015) Aoife Murray et al.   STEM CELLS

N-butylidenephthalide Attenuates Alzheimer's Disease-Like Cytopathy in Down Syndrome Induced Pluripotent Stem Cell-Derived Neurons

(2015) Chia-Yu Chang et al.   Scientific Reports

APP Metabolism Regulates Tau Proteostasis in Human Cerebral Cortex Neurons

(2015) Steven Moore et al.   Cell Reports

Cognitive functioning in relation to brain amyloid-β in healthy adults with Down syndrome

(2014) Sigan L. Hartley et al.   BRAIN

Amyloid precursor protein and neural development

(2014) M. Nicolas et al.   DEVELOPMENT

Molecular Mechanisms of Cellular Cholesterol Efflux

(2014) Michael C. Phillips   JOURNAL OF BIOLOGICAL CHEMISTRY

A distinct subfraction of Aβ is responsible for the high-affinity Pittsburgh compound B-binding site in Alzheimer's disease brain

(2014) Sergey V. Matveev et al.   JOURNAL OF NEUROCHEMISTRY

Progressive myoclonus epilepsy in Down syndrome patients with dementia

(2014) Giuseppe d’Orsi et al.   JOURNAL OF NEUROLOGY

The Amyloid Precursor Protein Controls Adult Hippocampal Neurogenesis through GABAergic Interneurons

(2014) B. Wang et al.   JOURNAL OF NEUROSCIENCE

Domains of genome-wide gene expression dysregulation in Down’s syndrome

(2014) Audrey Letourneau et al.   NATURE

REST and stress resistance in ageing and Alzheimer’s disease

(2014) Tao Lu et al.   NATURE

Microglial priming in neurodegenerative disease

(2014) V. Hugh Perry et al.   Nature Reviews Neurology

Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome

(2014) Kin Y. Mok et al.   NEUROBIOLOGY OF AGING

Frontal white matter integrity in adults with Down syndrome with and without dementia

(2014) David Powell et al.   NEUROBIOLOGY OF AGING

Large APP locus duplication in a sporadic case of cerebral haemorrhage

(2014) Albert Lladó et al.   NEUROGENETICS

Defective Mitochondrial Function In Vivo in Skeletal Muscle in Adults with Down’s Syndrome: A 31P-MRS Study

(2014) Alexander C. Phillips et al.   PLoS One

Toward onset prevention of cognitive decline in adults with Down syndrome (the TOP-COG study): study protocol for a randomized controlled trial

(2014) Sally-Ann Cooper et al.   Trials

Dysfunction of Wnt signaling and synaptic disassembly in neurodegenerative diseases

(2014) S. A. Purro et al.   Journal of Molecular Cell Biology

Sorting Nexin 27 Regulates Aβ Production through Modulating γ-Secretase Activity

(2014) Xin Wang et al.   Cell Reports

Atypical aging in down syndrome

(2013) Warren B. Zigman   Developmental Disabilities Research Reviews

The population prevalence of Down’s syndrome in England and Wales in 2011

(2013) Jianhua Wu et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Trends in maternal age distribution and the live birth prevalence of Down’s syndrome in England and Wales: 1938–2010

(2013) Jianhua Wu et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Reduction of Synaptojanin 1 Accelerates Aβ Clearance and Attenuates Cognitive Deterioration in an Alzheimer Mouse Model

(2013) Li Zhu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Down’s syndrome, neuroinflammation, and Alzheimer neuropathogenesis

(2013) Donna M Wilcock et al.   Journal of Neuroinflammation

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

(2013) B V Hooli et al.   MOLECULAR PSYCHIATRY

Usp16 contributes to somatic stem-cell defects in Down’s syndrome

(2013) Maddalena Adorno et al.   NATURE

Translating dosage compensation to trisomy 21

(2013) Jun Jiang et al.   NATURE

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

(2013) Jean-Charles Lambert et al.   NATURE GENETICS

Overexpression of Down syndrome cell adhesion molecule impairs precise synaptic targeting

(2013) Vedrana Cvetkovska et al.   NATURE NEUROSCIENCE

Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans

(2013) S. Ortega-Cubero et al.   NEUROBIOLOGY OF AGING

Mitochondria impact brain function and cognition

(2013) M. Picard et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deficits in human trisomy 21 iPSCs and neurons

(2013) J. P. Weick et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Preclinical trials in autosomal dominant AD: Implementation of the DIAN-TU trial

(2013) S.M. Mills et al.   REVUE NEUROLOGIQUE

Neuropathological Alterations in Alzheimer Disease

(2013) A. Serrano-Pozo et al.   Cold Spring Harbor Perspectives in Medicine

Seizures and Epileptiform Activity in the Early Stages of Alzheimer Disease

(2013) Keith A. Vossel et al.   JAMA Neurology

Abnormal brain synchrony in Down Syndrome

(2013) Jeffrey S. Anderson et al.   NeuroImage-Clinical

Imaging brain amyloid in nondemented young adults with Down syndrome using Pittsburgh compound B

(2012) Benjamin L. Handen et al.   Alzheimers & Dementia

Incidence of New-Onset Seizures in Mild to Moderate Alzheimer Disease

(2012) Michael C. Irizarry   ARCHIVES OF NEUROLOGY

Trisomy Correction in Down Syndrome Induced Pluripotent Stem Cells

(2012) Li B. Li et al.   Cell Stem Cell

Analysis of Copy Number Variation in Alzheimer’s Disease: The NIALOAD/ NCRAD Family Study

(2012) Shanker Swaminathan et al.   Current Alzheimer Research

Original article Size frequency distributions of β-amyloid (Aβ) deposits: a comparative study of four neurodegenerative disorders

(2012) Richard A. Armstrong   FOLIA NEUROPATHOLOGICA

A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk

(2012) Jade Chapman et al.   HUMAN MOLECULAR GENETICS

Trisomy for Synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes

(2012) Jack-Christophe Cossec et al.   HUMAN MOLECULAR GENETICS

Reduction of Synaptojanin 1 Ameliorates Synaptic and Behavioral Impairments in a Mouse Model of Alzheimer's Disease

(2012) L. B. J. McIntire et al.   JOURNAL OF NEUROSCIENCE

Cognitive reserve in ageing and Alzheimer's disease

(2012) Yaakov Stern   LANCET NEUROLOGY

Role of common and rare APP DNA sequence variants in Alzheimer disease

(2012) B. V. Hooli et al.   NEUROLOGY

Analysis of Copy Number Variation in Alzheimer’s Disease in a Cohort of Clinically Characterized and Neuropathologically Verified Individuals

(2012) Shanker Swaminathan et al.   PLoS One

Genetic and environmental vulnerabilities in children with neurodevelopmental disorders

(2012) A. Karmiloff-Smith et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Human Stem Cell Model of Early Alzheimer's Disease Pathology in Down Syndrome

(2012) Y. Shi et al.   Science Translational Medicine

Microglial pathology in Down syndrome

(2011) Qing-Shan Xue et al.   ACTA NEUROPATHOLOGICA

TDP-43 pathological changes in early onset familial and sporadic Alzheimer’s disease, late onset Alzheimer’s disease and Down’s Syndrome: association with age, hippocampal sclerosis and clinical phenotype

(2011) Yvonne S. Davidson et al.   ACTA NEUROPATHOLOGICA

Down syndrome and dementia: A randomized, controlled trial of antioxidant supplementation

(2011) Ira T. Lott et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

BACE2 Expression Increases in Human Neurodegenerative Disease

(2011) Christopher J. Holler et al.   AMERICAN JOURNAL OF PATHOLOGY

Using Positron Emission Tomography and Carbon 11–Labeled Pittsburgh Compound B to Image Brain Fibrillar β-Amyloid in Adults With Down Syndrome

(2011) Jennifer Landt   ARCHIVES OF NEUROLOGY

Positron Emission Tomography of Brain β-Amyloid and Tau Levels in Adults With Down Syndrome

(2011) Linda D. Nelson et al.   ARCHIVES OF NEUROLOGY

Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes

(2011) Mireia Vilardell et al.   BMC GENOMICS

Seizures and Epilepsy in Alzheimer's Disease

(2011) Daniel Friedman et al.   CNS Neuroscience & Therapeutics

A perfect storm: Converging paths of epilepsy and Alzheimer’s dementia intersect in the hippocampal formation

(2011) Jeffrey Noebels   EPILEPSIA

SOD1 (Copper/Zinc Superoxide Dismutase) Deficiency Drives Amyloid β Protein Oligomerization and Memory Loss in Mouse Model of Alzheimer Disease

(2011) Kazuma Murakami et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neuronal activity regulates the regional vulnerability to amyloid-β deposition

(2011) Adam W Bero et al.   NATURE NEUROSCIENCE

Comparison of Intima-Media Thickness of the Carotid Artery and Cardiovascular Disease Risk Factors in Adults With Versus Without the Down Syndrome

(2010) Christopher C. Draheim et al.   AMERICAN JOURNAL OF CARDIOLOGY

In vivo effects of APP are not exacerbated by BACE2 co-overexpression: behavioural characterization of a double transgenic mouse model

(2010) Garikoitz Azkona et al.   AMINO ACIDS

Reversal of autophagy dysfunction in the TgCRND8 mouse model of Alzheimer's disease ameliorates amyloid pathologies and memory deficits

(2010) Dun-Sheng Yang et al.   BRAIN

Link Between DYRK1A Overexpression and Several-Fold Enhancement of Neurofibrillary Degeneration With 3-Repeat Tau Protein in Down Syndrome

(2010) Jerzy Wegiel et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series

(2010) Daniel McNaughton et al.   NEUROBIOLOGY OF AGING

APP Transgenic Mice: Their Use and Limitations

(2010) Claudia Balducci et al.   NEUROMOLECULAR MEDICINE

Association of variants within APOE, SORL1, RUNX1, BACE1 and ALDH18A1 with dementia in Alzheimer's disease in subjects with Down syndrome

(2010) Ashok Patel et al.   NEUROSCIENCE LETTERS

Senile myoclonic epilepsy: Delineation of a common condition associated with Alzheimer's disease in Down syndrome

(2010) Roberto De Simone et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Oligomeric Dop1p is Part of the Endosomal Neo1p-Ysl2p-Arl1p Membrane Remodeling Complex

(2010) Sónia Barbosa et al.   TRAFFIC

Transactive Response DNA-Binding Protein 43 Burden in Familial Alzheimer Disease and Down Syndrome

(2009) Carol F. Lippa et al.   ARCHIVES OF NEUROLOGY

DYRK1A genetic variants are not linked to Alzheimer's disease in a Spanish case-control cohort

(2009) José Luis Vázquez-Higuera et al.   BMC Medical Genetics

Down syndrome--recent progress and future prospects

(2009) F. K. Wiseman et al.   HUMAN MOLECULAR GENETICS

Age-dependent dysregulation of brain amyloid precursor protein in the Ts65Dn Down syndrome mouse model

(2009) Jennifer H. K. Choi et al.   JOURNAL OF NEUROCHEMISTRY

Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease

(2009) K Kasuga et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Alzheimer's-related endosome dysfunction in Down syndrome is A -independent but requires APP and is reversed by BACE-1 inhibition

(2009) Y. Jiang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Upregulation of three Drosophila homologs of human chromosome 21 genes alters synaptic function: Implications for Down syndrome

(2009) K. T. Chang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

(2009) J. O. Korbel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DYRK1A-Dosage Imbalance Perturbs NRSF/REST Levels, Deregulating Pluripotency and Embryonic Stem Cell Fate in Down Syndrome

(2008) Claudia Canzonetta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cerebral amyloid angiopathy-related hemorrhage in a middle-aged patient with Down's syndrome

(2008) Ko-Suke Naito et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Disease-Specific Induced Pluripotent Stem Cells

(2008) In-Hyun Park et al.   CELL

Overexpression of Dyrk1A contributes to neurofibrillary degeneration in Down syndrome

(2008) Fei Liu et al.   FASEB JOURNAL

Significant effect of APOE epsilon 4 genotype on the risk of dementia in Alzheimer's disease and mortality in persons with Down Syndrome

(2008) V. P. Prasher et al.   INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY

Increased Dosage of Dyrk1A Alters Alternative Splicing Factor (ASF)-regulated Alternative Splicing of Tau in Down Syndrome

(2008) Jianhua Shi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

S100B induces tau protein hyperphosphorylation via Dickopff-1 up-regulation and disrupts the Wnt pathway in human neural stem cells

(2008) Giuseppe Esposito et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Excitatory-inhibitory relationship in the fascia dentata in the Ts65Dn mouse model of down syndrome

(2008) Pavel V. Belichenko et al.   JOURNAL OF COMPARATIVE NEUROLOGY

ABCG1 influences the brain cholesterol biosynthetic pathway but does not affect amyloid precursor protein or apolipoprotein E metabolism in vivo

(2008) Braydon L. Burgess et al.   JOURNAL OF LIPID RESEARCH

Dual-specificity tyrosine(Y)-phosphorylation regulated kinase 1A-mediated phosphorylation of amyloid precursor protein: evidence for a functional link between Down syndrome and Alzheimer’s disease

(2007) Soo-Ryoon Ryoo et al.   JOURNAL OF NEUROCHEMISTRY

The impact of apolipoprotein E on dementia in persons with Down's syndrome

(2007) A.M.W. Coppus et al.   NEUROBIOLOGY OF AGING