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。Teaching NeuroImages: Prominent spinal cord atrophy and white matter changes in adult polyglucosan body disease
A. Sebastian Lopez Chiriboga
NEUROLOGY (2023)
Assessing performance of pathogenicity predictors using clinically relevant variant datasets
Adam C. Gunning et al.
JOURNAL OF MEDICAL GENETICS (2021)
NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants
Bernard P. H. Cho et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2021)
Schwann cell plasticity regulates neuroblastic tumor cell differentiation via epidermal growth factor-like protein 8
Tamara Weiss et al.
NATURE COMMUNICATIONS (2021)
Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies
Matthew Traylor et al.
LANCET NEUROLOGY (2021)
HTRA1 expression profile and activity on TGF-β signaling in HTRA1 mutation carriers
Alessandro Fasano et al.
JOURNAL OF CELLULAR PHYSIOLOGY (2020)
Expression quantitative trait loci-derived scores and white matter microstructure in UK Biobank: a novel approach to integrating genetics and neuroimaging
Miruna C. Barbu et al.
TRANSLATIONAL PSYCHIATRY (2020)
Genome-wide association study of MRI markers of cerebral small vessel disease in 42,310 participants
Elodie Persyn et al.
NATURE COMMUNICATIONS (2020)
The UK Biobank imaging enhancement of 100,000 participants:rationale, data collection, management and future directions
Thomas J. Littlejohns et al.
NATURE COMMUNICATIONS (2020)
Identification of Susceptibility Loci for Spontaneous Coronary Artery Dissection
Tamiel N. Turley et al.
JAMA CARDIOLOGY (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature
Masahiro Uemura et al.
FRONTIERS IN NEUROLOGY (2020)
Broad phenotype of cysteine-alteringNOTCH3variants in UK Biobank CADASIL to nonpenetrance
Julie W. Rutten et al.
NEUROLOGY (2020)
Common Genetic Variation Indicates Separate Causes for Periventricular and Deep White Matter Hyperintensities
Nicola J. Armstrong et al.
STROKE (2020)
Beyond the Brain Systematic Review of Extracerebral Phenotypes Associated With Monogenic Cerebral Small Vessel Disease
Kristiina Rannikmae et al.
STROKE (2020)
Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction
Jacqueline Saw et al.
NATURE COMMUNICATIONS (2020)
Cerebral small vessel disease genomics and its implications across the lifespan
Muralidharan Sargurupremraj et al.
NATURE COMMUNICATIONS (2020)
Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects
Aniket Mishra et al.
BRAIN (2019)
Associations between vascular risk factors and brain MRI indices in UK Biobank
Simon R. Cox et al.
EUROPEAN HEART JOURNAL (2019)
WMH and long-term outcomes in ischemic stroke A systematic review and meta-analysis
Marios K. Georgakis et al.
NEUROLOGY (2019)
Small vessel disease: mechanisms and clinical implications
Joanna M. Wardlaw et al.
LANCET NEUROLOGY (2019)
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls
Jason Flannick et al.
NATURE (2019)
Stroke genetics: discovery, biology, and clinical applications
Martin Dichgans et al.
LANCET NEUROLOGY (2019)
UniProt: a worldwide hub of protein knowledge
Alex Bateman et al.
NUCLEIC ACIDS RESEARCH (2019)
Clinical Significance of Magnetic Resonance Imaging Markers of Vascular Brain Injury A Systematic Review and Meta-analysis
Stephanie Debette et al.
JAMA NEUROLOGY (2019)
Mapping ICD-10 and ICD-10-CM Codes to Phecodes: Workflow Development and Initial Evaluation
Patrick Wu et al.
JMIR MEDICAL INFORMATICS (2019)
CADASIL brain vessels show a HTRA1 loss-of-function profile
Andreas Zellner et al.
ACTA NEUROPATHOLOGICA (2018)
HTRA1, an age-related macular degeneration protease, processes extracellular matrix proteins EFEMP1 and TSP1
Michael K. Lin et al.
AGING CELL (2018)
Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes
Douglas M. Ruderfer et al.
CELL (2018)
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
Rainer Malik et al.
NATURE GENETICS (2018)
Image processing and Quality Control for the first 10,000 brain imaging datasets from UK Biobank
Fidel Alfaro-Almagro et al.
NEUROIMAGE (2018)
Burden of Dilated Perivascular Spaces, an Emerging Marker of Cerebral Small Vessel Disease, Is Highly Heritable
Marie-Gabrielle Duperron et al.
STROKE (2018)
Exome Chip Analysis Identifies Low-Frequency and Rare Variants in MRPL38 for White Matter Hyperintensities on Brain Magnetic Resonance Imaging
Xueqiu Jian et al.
STROKE (2018)
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease
Connor A. Emdin et al.
NATURE COMMUNICATIONS (2018)
Timing during translation matters: synonymous mutations in human pathologies influence protein folding and function
Robert Rauscher et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2018)
A Chinese CARASIL Patient Caused by Novel Compound Heterozygous Mutations in HTRA1
Fei Xie et al.
JOURNAL OF STROKE & CEREBROVASCULAR DISEASES (2018)
The UK Biobank resource with deep phenotyping and genomic data
Clare Bycroft et al.
NATURE (2018)
Prevalence and Clinical Factors of Migraine in Patients With Spontaneous Coronary Artery Dissection
Susan N. Kok et al.
JOURNAL OF THE AMERICAN HEART ASSOCIATION (2018)
Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations
Marion Jeanne et al.
MATRIX BIOLOGY (2017)
Vascular Cognitive Impairment
Martin Dichgans et al.
CIRCULATION RESEARCH (2017)
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
Nilah M. Ioannidis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy
Edgard Verdura et al.
ANNALS OF NEUROLOGY (2016)
RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data
Xiaowei Zhan et al.
BIOINFORMATICS (2016)
Migraine with aura and risk of silent brain infarcts and white matter hyperintensities: an MRI study
David Gaist et al.
BRAIN (2016)
Identification of additional risk loci for stroke and small vessel disease: a meta-analysis of genome-wide association studies
Ganesh Chauhan et al.
LANCET NEUROLOGY (2016)
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
Padhraig Gormley et al.
NATURE GENETICS (2016)
Multimodal population brain imaging in the UK Biobank prospective epidemiological study
Karla L. Miller et al.
NATURE NEUROSCIENCE (2016)
BIANCA (Brain Intensity AbNormality Classification Algorithm): A new tool for automated segmentation of white matter hyperintensities
Ludovica Griffanti et al.
NEUROIMAGE (2016)
Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL
Hiroaki Nozaki et al.
NEUROLOGY (2016)
The Ensembl Variant Effect Predictor
William McLaren et al.
GENOME BIOLOGY (2016)
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease
Edgard Verdura et al.
BRAIN (2015)
Multiethnic Genome-Wide Association Study of Cerebral White Matter Hyperintensities on MRI
Benjamin F. J. Verhaaren et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2015)
Structural MRI Predictors of Late-Life Cognition Differ Across African Americans, Hispanics, and Whites
Laura B. Zahodne et al.
CURRENT ALZHEIMER RESEARCH (2015)
Determinants of amyloid fibril degradation by the PDZ protease HTRA1
Simon Poepsel et al.
NATURE CHEMICAL BIOLOGY (2015)
Multiethnic Genome-Wide Association Study of Cerebral White Matter Hyperintensities on MRI
Benjamin F. J. Verhaaren et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2015)
Rare-Variant Association Analysis: Study Designs and Statistical Tests
Seunggeung Lee et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent
Jeffrey Staples et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Cerebral small vessel disease-related protease HtrA1 processes latent TGF-β binding protein 1 and facilitates TGF-β signaling
Nathalie Beaufort et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Migraine, White Matter Hyperintensities, and Subclinical Brain Infarction in a Diverse Community The Northern Manhattan Study
Teshamae Monteith et al.
STROKE (2014)
LRP1 Protects the Vasculature by Regulating Levels of Connective Tissue Growth Factor and HtrA1
Selen C. Muratoglu et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2013)
Mechanisms of sporadic cerebral small vessel disease: insights from neuroimaging (vol 12, pg 483, 2013)
J. M. Wardlaw et al.
LANCET NEUROLOGY (2013)
Migraine and white matter hyperintensities The ARIC MRI study
Ali G. Hamedani et al.
NEUROLOGY (2013)
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations
Gianina Ravenscroft et al.
NEUROMUSCULAR DISORDERS (2013)
Mechanisms of sporadic cerebral small vessel disease: insights from neuroimaging
Joanna M. Wardlaw et al.
LANCET NEUROLOGY (2013)
Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies
Seunggeun Lee et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings
Fanny Mochel et al.
ANNALS OF NEUROLOGY (2012)
EGFL7: a unique angiogenic signaling factor in vascular development and disease
Donna Nichol et al.
BLOOD (2012)
Structural Brain Changes in Migraine
Inge H. Palm-Meinders et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2012)
Structural and Functional Analysis of HtrA1 and Its Subdomains
Charles Eigenbrot et al.
STRUCTURE (2012)
Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test
Michael C. Wu et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Genome-Wide Association Studies of Cerebral White Matter Lesion Burden: The CHARGE Consortium
Myriam Fornage et al.
ANNALS OF NEUROLOGY (2011)
2001-2011: A Decade of the LADIS (Leukoaraiosis And DISability) Study: What Have We Learned about White Matter Changes and Small-Vessel Disease?
Anna Poggesi et al.
CEREBROVASCULAR DISEASES (2011)
Headache, migraine, and structural brain lesions and function: population based Epidemiology of Vascular Ageing-MRI study
Tobias Kurth et al.
BMJ-BRITISH MEDICAL JOURNAL (2011)
Robust relationship inference in genome-wide association studies
Ani Manichaikul et al.
BIOINFORMATICS (2010)
An Evaluation of Statistical Approaches to Rare Variant Analysis in Genetic Association Studies
Andrew P. Morris et al.
GENETIC EPIDEMIOLOGY (2010)
NON-LETHAL NEONATAL NEUROMUSCULAR VARIANT OF GLYCOGENOSIS TYPE IV WITH NOVEL GBE1 MUTATIONS
Carla Fernandez et al.
MUSCLE & NERVE (2010)
The clinical importance of white matter hyperintensities on brain magnetic resonance imaging: systematic review and meta-analysis
Stephanie Debette et al.
BMJ-BRITISH MEDICAL JOURNAL (2010)
Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
Kenju Hara et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Brain morphology in older African Americans, Caribbean Hispanics, and whites from northern Manhattan
Adam M. Brickman et al.
ARCHIVES OF NEUROLOGY (2008)
VE-statin/egfl7 regulates vascular elastogenesis by interacting with lysyl oxidases
Etienne Lelievre et al.
EMBO JOURNAL (2008)
Role of COL4A1 in small-vessel disease and hemorrhagic stroke
DB Gould et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Implications of the serine protease HtrA1 in amyloid precursor protein processing
S Grau et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
The endothelial-cell-derived secreted factor Egfl7 regulates vascular tube formation
LH Parker et al.
NATURE (2004)
Migraine as a risk factor for subclinical brain lesions
MC Kruit et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2004)
Longitudinal study of blood pressure and white matter hyperintensities -: The EVA MRI cohort
C Dufouil et al.
NEUROLOGY (2001)
Relation between age-related decline in intelligence and cerebral white-matter hyperintensities in healthy octogenarians: a longitudinal study
E Garde et al.
LANCET (2000)
分享论文
