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。Common Mitochondrial Sequence Variants in Ischemic Stroke
Christopher D. Anderson et al.
ANNALS OF NEUROLOGY (2011)
A cortical form of CADASIL with cerebral Aβ amyloidosis
Claire Paquet et al.
ACTA NEUROPATHOLOGICA (2010)
Mutations in NOTCH3 cause the formation and retention of aggregates in the endoplasmic reticulum, leading to impaired cell proliferation
Keikichi Takahashi et al.
HUMAN MOLECULAR GENETICS (2010)
Childhood-Onset CADASIL: Clinical, Imaging, and Neurocognitive Features
Jessica Hartley et al.
JOURNAL OF CHILD NEUROLOGY (2010)
MRI Features of Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy (PADMAL)
Xiao-Qi Ding et al.
JOURNAL OF NEUROIMAGING (2010)
Cerebral small vessel disease: from pathogenesis and clinical characteristics to therapeutic challenges
Leonardo Pantoni
LANCET NEUROLOGY (2010)
Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients
L. Pantoni et al.
NEUROLOGY (2010)
COL4A1 Mutations as a Monogenic Cause of Cerebral Small Vessel Disease A Systematic Review
Silvia Lanfranconi et al.
STROKE (2010)
Genome-Wide Association Studies of MRI-Defined Brain Infarcts Meta-Analysis From the CHARGE Consortium
Stephanie Debette et al.
STROKE (2010)
Clinical Spectrum of CADASIL and the Effect of Cardiovascular Risk Factors on Phenotype Study in 200 Consecutively Recruited Individuals
Poneh Adib-Samii et al.
STROKE (2010)
Advances in Genomic Analysis of Stroke What Have We Learned and Where Are We Headed?
Matthew B. Lanktree et al.
STROKE (2010)
Bone Marrow-Derived Progenitor Cells in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
Francesca Pescini et al.
STROKE (2010)
COL4A1 Mutation in Two Preterm Siblings with Antenatal Onset of Parenchymal Hemorrhage
Linda S. de Vries et al.
ANNALS OF NEUROLOGY (2009)
Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients
Saara Tikka et al.
BRAIN (2009)
Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain
Marie Monet-Lepretre et al.
BRAIN (2009)
Aicardi-Goutieres syndrome
S. Orcesi et al.
BRITISH MEDICAL BULLETIN (2009)
Smooth Muscle Notch1 Mediates Neointimal Formation After Vascular Injury
Yuxin Li et al.
CIRCULATION (2009)
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male
Jakob Granild-Jensen et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2009)
TREX1 acts in degrading damaged DNA from drug-treated tumor cells
Chuan-Jen Wang et al.
DNA REPAIR (2009)
A Chinese pedigree of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): Clinical and radiological features
D. M. Zheng et al.
JOURNAL OF CLINICAL NEUROSCIENCE (2009)
'Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
S. Alamowitch et al.
NEUROLOGY (2009)
Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
Kenju Hara et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Genomewide Association Studies of Stroke
M. Arfan Ikram et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Genetic Determinants of White Matter Hyperintensities on Brain Scans A Systematic Assessment of 19 Candidate Gene Polymorphisms in 46 Studies in 19 000 Subjects
Lavinia Paternoster et al.
STROKE (2009)
Neuropathological Correlates of Temporal Pole White Matter Hyperintensities in CADASIL
Yumi Yamamoto et al.
STROKE (2009)
The benefit of docosahexanoic acid on the migration of vascular smooth muscle cells is partially dependent on notch regulation of MMP-2/-9
Sandrine Delbosc et al.
AMERICAN JOURNAL OF PATHOLOGY (2008)
Notch3 Is a Major Regulator of Vascular Tone in Cerebral and Tail Resistance Arteries
E. J. Belin de Chantemele et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2008)
Autosomal dominant leukoencephalopathy with mild clinical symptoms due to cerebrovascular dysfunctions: A new disease entity?
Shinichi Hirabayashi et al.
BRAIN & DEVELOPMENT (2008)
Trex1 prevents cell-intrinsic initiation of autoimmunity
Daniel B. Stetson et al.
CELL (2008)
New roles for the major human 3′-5′ exonuclease TREX1 in human disease
David Kavanagh et al.
CELL CYCLE (2008)
Notch signaling regulates platelet-derived growth factor receptor-β expression in vascular smooth muscle cells
Shaobo Jin et al.
CIRCULATION RESEARCH (2008)
Notch and Vascular Smooth Muscle Cell Phenotype
David Morrow et al.
CIRCULATION RESEARCH (2008)
Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain
Charles Fouillade et al.
HUMAN MUTATION (2008)
Is the increased expression of ubiquitin in CADASIL syndrome a manifestation of aberrant endocytosis in the vascular smooth muscle cells?
D. Dziewulska et al.
JOURNAL OF CLINICAL NEUROSCIENCE (2008)
Hereditary Systemic Angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy
D. T. Winkler et al.
JOURNAL OF NEUROLOGY (2008)
An overview of Notch3 function in vascular smooth muscle cells
Tao Wang et al.
PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY (2008)
Neurological signs in relation to type of cerebrovascular disease in vascular dementia
Salka S. Staekenborg et al.
STROKE (2008)
Further mapping of 10q26 supports strong association of HTRA1 polymorphisms with age-related macular degeneration
Daniel Gibbs et al.
VISION RESEARCH (2008)
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
Emmanuelle Plaisier et al.
NEW ENGLAND JOURNAL OF MEDICINE (2007)
Vascular parkinsonism in a CADASIL case with an intact nigrostriatal dopaminergic system
Florian Wegner et al.
JOURNAL OF NEUROLOGY (2007)
Notch3 activation modulates cell growth behaviour and cross-talk to Wnt/TCF signalling pathway
Tao Wang et al.
CELLULAR SIGNALLING (2007)
Extracellular control of TGFβ signalling in vascular development and disease
Peter ten Dijke et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2007)
C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
Anna Richards et al.
NATURE GENETICS (2007)
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke
Igor Sibon et al.
ANNALS OF NEUROLOGY (2007)
Rho kinase contributes to basal vascular tone in humans:: role of endothelium-derived nitric oxide
E. Buessemaker et al.
AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY (2007)
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage
Katayoun Vahedi et al.
STROKE (2007)
Proteome analysis of cultivated vascular smooth muscle cells from a CADASIL patient
Saara Ihalainen et al.
MOLECULAR MEDICINE (2007)
TGF-β and atherosclerosis in man
David J. Grainger
CARDIOVASCULAR RESEARCH (2007)
Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL
W. C. Low et al.
BRAIN (2007)
Characteristic features of in vivo skin microvascular reactivity in CADASIL
Claire Gobron et al.
JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM (2007)
Intracerebral hemorrhages in CADASIL
Jay Chol Choi et al.
NEUROLOGY (2006)
A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration
Zhenglin Yang et al.
SCIENCE (2006)
Cortical neuronal apoptosis in CADASIL
Anand Viswanathan et al.
STROKE (2006)
Jagged1-selective notch signaling induces smooth muscle differentiation via a RBP-Jκ-dependent pathway
Hiroshi Doi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Arterioles of the lenticular nucleus in CADASIL
Qing Miao et al.
STROKE (2006)
Blood pressure and haemoglobin AIc are associated with microhaemorrhage in CADASIL:: a two-centre cohort study
Anand Viswanathan et al.
BRAIN (2006)
Ophthalmologic findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy -: A cross-sectional study
Susanna Roine et al.
OPHTHALMOLOGY (2006)
The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death
Dipanjan Chowdhury et al.
MOLECULAR CELL (2006)
Smooth muscle α-actin is a direct target of Notch/CSL
Michela Noseda et al.
CIRCULATION RESEARCH (2006)
Role of COL4A1 in small-vessel disease and hemorrhagic stroke
DB Gould et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1
MS van der Knaap et al.
ANNALS OF NEUROLOGY (2006)
A novel hereditary small vessel disease of the brain
S Verreault et al.
ANNALS OF NEUROLOGY (2006)
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly
G. Breedveld et al.
JOURNAL OF MEDICAL GENETICS (2006)
Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASIL
Akira Ishiko et al.
ACTA NEUROPATHOLOGICA (2006)
Diffusion magnetic resonance histograms as a surrogate marker and predictor of disease progression in CADASIL -: A two-year follow-up study
M Holtmannspötter et al.
STROKE (2005)
Damage within a network of white matter regions underlies executive dysfunction in CADASIL
M O'Sullivan et al.
NEUROLOGY (2005)
Intracerebral haemorrhage in CADASIL
A Ragoschke-Schumm et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2005)
Large cerebral artery involvement in CADASIL
EJ Choi et al.
NEUROLOGY (2005)
Spectrum of mutations in biopsy-proven CADASIL - Implications for diagnostic strategies
N Peters et al.
ARCHIVES OF NEUROLOGY (2005)
Functional redundancy of the Notch gene family during mouse embryogenesis:: Analysis of Notch gene expression in Notch3-deficient mice
T Kitamoto et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2005)
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly
DB Gould et al.
SCIENCE (2005)
The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland
SSM Razvi et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2005)
CADASIL: underdiagnosed in psychiatric patients?
T Leyhe et al.
ACTA PSYCHIATRICA SCANDINAVICA (2005)
Impaired cerebral vasoreactivity in a transgenic mouse model of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy arteriopathy
P Lacombe et al.
STROKE (2005)
Genes contributing to risk for common forms of stroke
JR Gulcher et al.
TRENDS IN MOLECULAR MEDICINE (2005)
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)
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephaloapthy (CADASIL) - A hereditary cerebrovascular disease, which can be diagnosed by skin biopsy electron microscopy
A Ishiko et al.
AMERICAN JOURNAL OF DERMATOPATHOLOGY (2005)
Spontaneous lobar haemorrhage in CADASIL
AV MacLean et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2005)
Cerebral small vessel disease in pseudoxanthoma elasticum: Three cases
AM Pavlovic et al.
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (2005)
Co-occurrence of CADASIL and isolated CNS angiitis
JW Schmidley et al.
CEREBROVASCULAR DISEASES (2005)
Retinal vascular abnormalities in CADASIL
C Haritoglou et al.
NEUROLOGY (2004)
Abnormal vasoconstrictor responses to angiotensin II and noradrenaline in isolated small arteries from patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
MB Hussain et al.
STROKE (2004)
PI 3-kinase, Akt and cell survival
J Downward
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2004)
Notch function in the vasculature: insights from zebrafish, mouse and man
CJ Shawber et al.
BIOESSAYS (2004)
Transforming growth factor β and atherosclerosis:: So far, so good for the protective cytokine hypothesis
DJ Grainger
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2004)
Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling pathway
A Joutel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
The influence of genetic and cardiovascular risk factors on the CADASIL phenotype
S Singhal et al.
BRAIN (2004)
Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL
C Hagel et al.
ACTA NEUROPATHOLOGICA (2004)
Histopathological abnormalities in ocular blood vessels of CADASIL patients
C Haritoglou et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2004)
Towards defining the neuropathological substrates of vascular dementia
RN Kalaria et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2004)
Notch3 is required for arterial identity and maturation of vascular smooth muscle cells
V Domenga et al.
GENES & DEVELOPMENT (2004)
Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients
C Opherk et al.
BRAIN (2004)
Scanning laser Doppler flowmetry shows reduced retinal capillary blood flow in CADASIL
M Harju et al.
STROKE (2004)
CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk
N Peters et al.
EXPERIMENTAL CELL RESEARCH (2004)
Detection of the founder effect in Finnish CADASIL families
K Mykkänen et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2004)
Positron emission tomography examination of cerebral blood flow and glucose metabolism in young CADASIL patients
S Tuominen et al.
STROKE (2004)
Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome)
K Arima et al.
NEUROPATHOLOGY (2003)
HRT1 modulates vascular smooth muscle cell proliferation and apoptosis
WL Wang et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2003)
Glycohistochemical characterization of vascular muscle cell destruction in CADASIL subjects by lectins, neoglycoconjugates and galectin-specific antibodies
P Brulin-Fardoux et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2003)
Progressive supranuclear palsy phenotype secondary to CADASIL
JA Van Gerpen et al.
PARKINSONISM & RELATED DISORDERS (2003)
Evaluation of diagnostic NOTCH3 immunostaining in CADASIL
SAJL Oberstein et al.
ACTA NEUROPATHOLOGICA (2003)
Mechanisms of TGF-β signaling from cell membrane to the nucleus
YG Shi et al.
CELL (2003)
Coexistence of CADASIL and Alzheimer's disease
V Thijs et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2003)
Hemorrhagic stroke associated with the Iowa amyloid precursor protein mutation
SM Greenberg et al.
NEUROLOGY (2003)
Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy
K Vahedi et al.
NEUROLOGY (2003)
Transgenic mice expressing mutant Notch3 develop vascular alterations characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
MM Ruchoux et al.
AMERICAN JOURNAL OF PATHOLOGY (2003)
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR imaging findings at different ages - 3rd-6th decades
R van den Boom et al.
RADIOLOGY (2003)
Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis
YB Dong et al.
STROKE (2003)
A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling
H Karlström et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Monitoring disease progression in CADASIL with diffusion magnetic resonance imaging - A study with whole brain histogram analysis
N Molko et al.
STROKE (2002)
Determinants of Notch-3 receptor expression and signaling in vascular smooth muscle cells - Implications in cell-cycle regulation
AH Campos et al.
CIRCULATION RESEARCH (2002)
CADASIL mimicking primary angiitis of the central nervous system
ST Engelter et al.
ARCHIVES OF NEUROLOGY (2002)
Mouse notch 3 expression in the pre- and postnatal brain: Relationship to the stroke and dementia syndrome CADASIL
N Prakash et al.
EXPERIMENTAL CELL RESEARCH (2002)
Notch3 signaling in vascular smooth muscle cells induces c-FLIP expression via ERK/MAPK activation - Resistance to Fas ligand-induced apoptosis
WL Wang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Overexpression of semicarbazide sensitive amine oxidase in the cerebral blood vessels in patients with Alzheimer's disease and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
I Ferrer et al.
NEUROSCIENCE LETTERS (2002)
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
S Yanagawa et al.
NEUROLOGY (2002)
Cerebral microbleeds in CADASIL - A gradient-echo magnetic resonance imaging and autopsy study
M Dichgans et al.
STROKE (2002)
Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis
A Joutel et al.
LANCET (2001)
Vascular expression of Notch pathway receptors and ligands is restricted to arterial vessels
N Villa et al.
MECHANISMS OF DEVELOPMENT (2001)
Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3
RA Ophoff et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Advances in molecular genetics and pathology of cerebrovascular disorders
RH Kalaria
TRENDS IN NEUROSCIENCES (2001)
Retinal findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
W Robinson et al.
SURVEY OF OPHTHALMOLOGY (2001)
How cells read TGF-β signals
J Massagué
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2000)
Detection of complement factor B in the cerebrospinal fluid of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy disease using two-dimensional gel electrophoresis and mass spectrometry
M Ünlü et al.
NEUROSCIENCE LETTERS (2000)
The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients
A Joutel et al.
JOURNAL OF CLINICAL INVESTIGATION (2000)
Mechanical strain-induced extracellular matrix production by human vascular smooth muscle cells - Role of TGF-beta(1)
CJ O'Callaghan et al.
HYPERTENSION (2000)
分享论文
