相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。The amyloid hypothesis in Alzheimer disease: new insights from new therapeutics
Eric Karran et al.
NATURE REVIEWS DRUG DISCOVERY (2022)
Genomics and Functional Genomics of Alzheimer's Disease
M. Ilyas Kamboh
NEUROTHERAPEUTICS (2022)
Clinical Deep Phenotyping of ABCA7 Mutation Carriers
Alana S. Campbell et al.
NEUROLOGY-GENETICS (2022)
Presenilin 2 N141I mutation induces hyperactive immune response through the epigenetic repression of REV-ERBα
Hyeri Nam et al.
NATURE COMMUNICATIONS (2022)
Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion
Liene Bossaerts et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2022)
The Boston criteria version 2.0 for cerebral amyloid angiopathy: a multicentre, retrospective, MRI-neuropathology diagnostic accuracy study
Andreas Charidimou et al.
LANCET NEUROLOGY (2022)
Early-Onset Alzheimer's Disease: What Is Missing in Research?
Temitope Ayodele et al.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2021)
Alzheimer's disease
Philip Scheltens et al.
LANCET (2021)
Role of ABCA7 in Human Health and in Alzheimer's Disease
Shiraz Dib et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
Interpretation of risk loci from genome-wide association studies of Alzheimer's disease
Shea J. Andrews et al.
LANCET NEUROLOGY (2020)
Cerebral amyloid angiopathy and Alzheimer disease - one peptide, two pathways
Steven M. Greenberg et al.
NATURE REVIEWS NEUROLOGY (2020)
Screening of dementia genes by whole-exome sequencing in Spanish patients with early -onset dementia: likely pathogenic, uncertain signi ficance and risk variants
Oscar Ramos-Campoy et al.
NEUROBIOLOGY OF AGING (2020)
Cerebrovascular reactivity in cerebral amyloid angiopathy, Alzheimer disease, and mild cognitive impairment
Aaron R. Switzer et al.
NEUROLOGY (2020)
The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics
Arne De Roeck et al.
ACTA NEUROPATHOLOGICA (2019)
Trafficking and proteolytic processing of amyloid precursor protein and secretases in Alzheimer's disease development: An up-to-date review
Melike Yuksel et al.
EUROPEAN JOURNAL OF PHARMACOLOGY (2019)
Advances in genetics of migraine
Heidi G. Sutherland et al.
JOURNAL OF HEADACHE AND PAIN (2019)
Cerebral Amyloid Angiopathy, Alzheimer's Disease and MicroRNA: miRNA as Diagnostic Biomarkers and Potential Therapeutic Targets
J. Weldon Furr et al.
NEUROMOLECULAR MEDICINE (2019)
NIA-AA Research Framework: Toward a biological definition of Alzheimer's disease
Clifford R. Jack et al.
ALZHEIMERS & DEMENTIA (2018)
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases
Helene-Marie Lanoiselee et al.
PLOS MEDICINE (2017)
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease
Arne De Roeck et al.
ACTA NEUROPATHOLOGICA (2017)
ABCA7 loss-of-function variants, expression, and neurologic disease risk
Mariet Allen et al.
NEUROLOGY-GENETICS (2017)
Molecular genetics of early-onset Alzheimer's disease revisited
Rita Cacace et al.
ALZHEIMERS & DEMENTIA (2016)
The amyloid hypothesis of Alzheimer's disease at 25years
Dennis J. Selkoe et al.
EMBO MOLECULAR MEDICINE (2016)
ABCA7 Mediates Phagocytic Clearance of Amyloid-beta in the Brain
YuHong Fu et al.
JOURNAL OF ALZHEIMERS DISEASE (2016)
ABCA7 Deficiency Accelerates Amyloid-β Generation and Alzheimer's Neuronal Pathology
Nobutaka Sakae et al.
JOURNAL OF NEUROSCIENCE (2016)
ABCA7 rare variants and Alzheimer disease risk
Kilan Le Guennec et al.
NEUROLOGY (2016)
A genetic screen of the mutations in the Korean patients with early-onset Alzheimer's disease
Seong Soo An et al.
CLINICAL INTERVENTIONS IN AGING (2016)
Alzheimer's Disease Risk Genes and Mechanisms of Disease Pathogenesis
Celeste M. Karch et al.
BIOLOGICAL PSYCHIATRY (2015)
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
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Cerebral Amyloid Angiopathy: Emerging Concepts
Masahito Yamada
JOURNAL OF STROKE (2015)
Clinical and Neuroimaging Characterization of Chinese Dementia Patients with PSEN1 and PSEN2 Mutations
Zhihong Shi et al.
DEMENTIA AND GERIATRIC COGNITIVE DISORDERS (2015)
Probable novel PSEN2 Val214Leu mutation in Alzheimer's disease supported by structural prediction
Young Chul Youn et al.
BMC NEUROLOGY (2014)
Structure of a presenilin family intramembrane aspartate protease
Xiaochun Li et al.
NATURE (2013)
Toward defining the preclinical stages of Alzheimer's disease: Recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease
Reisa A. Sperling et al.
ALZHEIMERS & DEMENTIA (2011)
Roles of ATP-Binding Cassette Transporter A7 in Cholesterol Homeostasis and Host Defense System
Nobukiyo Tanaka et al.
JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS (2011)
A consensus protocol for the standardization of cerebrospinal fluid collection and biobanking
C. E. Teunissen et al.
NEUROLOGY (2009)
Increased prevalence of significant recurrent headache in preclinical familial Alzheimer's disease mutation carriers
John M. Ringman et al.
DEMENTIA AND GERIATRIC COGNITIVE DISORDERS (2008)
Early-onset Alzheimer's disease is associated with greater pathologic burden
Gad A. Marshall et al.
JOURNAL OF GERIATRIC PSYCHIATRY AND NEUROLOGY (2007)
Mutations of presenilin genes in dilated cardiomyopathy and heart failure
Duanxiang Li et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
A nine-transmembrane domain topology for presenilin 1
H Laudon et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
A novel transmembrane topology of presenilin based on reconciling experimental and computational evidence
A Henricson et al.
FEBS JOURNAL (2005)
Wild-type and mutated presenilins 2 trigger p53-dependent apoptosis and down-regulate presenilin 1 expression in HEK293 human cells and in murine neurons
CA da Costa et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Pro-apoptotic effect of presenilin 2 (PS2) overexpression is associated with down-regulation of Bcl-2 in cultured neurons
W Araki et al.
JOURNAL OF NEUROCHEMISTRY (2001)
Identification of a novel human sterol-sensitive ATP-binding cassette transporter (ABCA7)
WE Kaminski et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2000)