review article | Q7318358 |
scholarly article | Q13442814 |
P50 | author | Minna Pöyhönen | Q57027737 |
Emmanuel Cognat | Q58428999 | ||
Marc Baumann | Q38591097 | ||
Anne Joutel | Q47155789 | ||
P2093 | author name string | Toshio Fukutake | |
Hannu Kalimo | |||
Liisa Myllykangas | |||
Matti Viitanen | |||
Maija Siitonen | |||
Saara Tikka | |||
Petra Pasanen | |||
P2860 | cites work | Neurologic symptoms are common during gestation and puerperium in CADASIL. | Q48914780 |
Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C. | Q48944029 | ||
Cerebral hemodynamics in CADASIL before and after acetazolamide challenge assessed with MRI bolus tracking | Q49057398 | ||
Apathy: a major symptom in CADASIL. | Q50753229 | ||
An unusual case of elderly-onset cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with multiple cerebrovascular risk factors. | Q51036999 | ||
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male. | Q51829577 | ||
Functional redundancy of the Notch gene family during mouse embryogenesis: analysis of Notch gene expression in Notch3-deficient mice. | Q52050308 | ||
Homozygosity and severity of phenotypic presentation in a CADASIL family. | Q54234347 | ||
Screening for NOTCH3 gene mutations among 151 consecutive Korean patients with acute ischemic stroke. | Q54335988 | ||
Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | Q56502592 | ||
Two novel HTRA1 mutations in a European CARASIL patient | Q56681397 | ||
Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASIL | Q57187397 | ||
Archetypal Arg169Cys Mutation in NOTCH3 Does Not Drive the Pathogenesis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leucoencephalopathy via a Loss-of-Function Mechanism | Q57811225 | ||
Response to Letter Regarding Article, “Archetypal Arg169Cys Mutation in NOTCH3 Does Not Drive the Pathogenesis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leucoencephalopathy via a Loss-of-Function Mechanism” | Q57811238 | ||
A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling. | Q24544042 | ||
The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients | Q24629786 | ||
The Notch1 receptor is cleaved constitutively by a furin-like convertase | Q24671866 | ||
Regulation of postnatal bone homeostasis by TGFβ | Q26852543 | ||
Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL | Q28143970 | ||
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12 | Q28268718 | ||
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia | Q28294011 | ||
Transcriptome analysis for Notch3 target genes identifies Grip2 as a novel regulator of myogenic response in the cerebrovasculature | Q28586649 | ||
De novo mutation in theNotch3 gene causing CADASIL | Q29303133 | ||
Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain | Q30487788 | ||
Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease | Q30492865 | ||
Clinical severity in CADASIL related to ultrastructural damage in white matter: in vivo study with diffusion tensor MRI. | Q30584999 | ||
Cerebral hemorrhages in CADASIL: report of four cases and a brief review | Q30620885 | ||
Neuroimaging of cerebral small vessel disease | Q30861858 | ||
Role of electron microscopy in the diagnosis of cadasil syndrome: a study of 32 patients | Q31120190 | ||
Impaired cerebral vasoreactivity in a transgenic mouse model of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy arteriopathy | Q31158623 | ||
Scanning laser Doppler flowmetry shows reduced retinal capillary blood flow in CADASIL. | Q33207744 | ||
Characteristic features of in vivo skin microvascular reactivity in CADASIL. | Q33247393 | ||
Cognition in CADASIL. | Q48810511 | ||
Impaired endothelial function of forearm resistance arteries in CADASIL patients | Q33296135 | ||
Cadasil | Q33470786 | ||
Early white matter changes in CADASIL: evidence of segmental intramyelinic oedema in a pre-clinical mouse model | Q33669397 | ||
New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical feature | Q33734810 | ||
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification | Q33788625 | ||
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 | Q33909665 | ||
Cerebral microbleeds in CADASIL. | Q34092506 | ||
Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis | Q34106491 | ||
Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | Q34295928 | ||
Allele-specific silencing of mutant Ataxin-7 in SCA7 patient-derived fibroblasts | Q34508264 | ||
Effects of short term atorvastatin treatment on cerebral hemodynamics in CADASIL. | Q34631936 | ||
Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations | Q34926082 | ||
Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease | Q35008186 | ||
The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland | Q35487508 | ||
Functional analysis of a recurrent missense mutation in Notch3 in CADASIL | Q35489815 | ||
Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome). | Q35627281 | ||
Exon-skipping therapy: a roadblock, detour, or bump in the road? | Q35731229 | ||
The minimum prevalence of CADASIL in northeast England. | Q35846528 | ||
Proteome analysis of cultivated vascular smooth muscle cells from a CADASIL patient. | Q35868667 | ||
DSL ligand endocytosis physically dissociates Notch1 heterodimers before activating proteolysis can occur | Q36117781 | ||
CADASIL mutations and shRNA silencing of NOTCH3 affect actin organization in cultured vascular smooth muscle cells | Q36459076 | ||
Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension | Q36709547 | ||
An extracellular region of Serrate is essential for ligand-induced cis-inhibition of Notch signaling | Q36783149 | ||
Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL | Q36904906 | ||
Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients | Q37158175 | ||
Spontaneous intracerebral hemorrhage in CADASIL | Q37426546 | ||
LTBPs, more than just an escort service. | Q37973696 | ||
Notch signalling in smooth muscle cells during development and disease | Q37977827 | ||
The vascular smooth muscle cell in arterial pathology: a cell that can take on multiple roles | Q37998958 | ||
Vascular fibrosis in atherosclerosis | Q38078633 | ||
Features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | Q38239362 | ||
Transendocytosis is impaired in CADASIL-mutant NOTCH3. | Q39443869 | ||
Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-β1 via cleavage of proTGF-β1. | Q39592304 | ||
Amyloid-like aggregates sequester numerous metastable proteins with essential cellular functions | Q39610788 | ||
Selective use of ADAM10 and ADAM17 in activation of Notch1 signaling | Q39808768 | ||
Donepezil in patients with subcortical vascular cognitive impairment: a randomised double-blind trial in CADASIL. | Q40120849 | ||
CADASIL-causing mutations do not alter Notch3 receptor processing and activation | Q40264257 | ||
Impaired vascular mechanotransduction in a transgenic mouse model of CADASIL arteriopathy | Q41815825 | ||
Bidirectional encroachment of collagen into the tunica media in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | Q42013247 | ||
Cholinergic neuronal deficits in CADASIL. | Q42504530 | ||
Cerebral white matter is highly vulnerable to ischemia | Q42522490 | ||
A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population | Q42790452 | ||
CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk | Q42825763 | ||
Transgenic mice expressing mutant Notch3 develop vascular alterations characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | Q42855085 | ||
Acetazolamide for the treatment of migraine with aura in CADASIL. | Q43820162 | ||
NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL | Q43900595 | ||
"CADASIL coma" in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in age-matched heterozygous patients with the same G528C NOTCH3 mutation | Q44368315 | ||
A novel mutation of the high-temperature requirement A serine peptidase 1 (HTRA1) gene in a Chinese family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). | Q44395739 | ||
Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals | Q44523405 | ||
Positron emission tomography examination of cerebral blood flow and glucose metabolism in young CADASIL patients | Q44797133 | ||
The influence of genetic and cardiovascular risk factors on the CADASIL phenotype | Q44960188 | ||
Detection of the founder effect in Finnish CADASIL families | Q45065891 | ||
Notch signaling regulates platelet-derived growth factor receptor-beta expression in vascular smooth muscle cells. | Q45829122 | ||
Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. | Q46040272 | ||
Different clinical phenotypes in monozygotic CADASIL twins with a novel NOTCH3 mutation | Q46048062 | ||
Two Japanese CADASIL families exhibiting Notch3 mutation R75P not involving cysteine residue | Q46222605 | ||
CADASIL mutations impair Notch3 glycosylation by Fringe | Q46460917 | ||
A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain. | Q46560857 | ||
Brain microvascular accumulation and distribution of the NOTCH3 ectodomain and granular osmiophilic material in CADASIL. | Q46580901 | ||
Characterization of Notch3-deficient mice: normal embryonic development and absence of genetic interactions with a Notch1 mutation | Q47408089 | ||
Insidious cognitive decline in CADASIL. | Q47604744 | ||
The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo | Q48256255 | ||
Childhood-onset CADASIL: clinical, imaging, and neurocognitive features | Q48286554 | ||
Lacunar infarcts are the main correlate with cognitive dysfunction in CADASIL. | Q48288645 | ||
Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study | Q48365396 | ||
A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree | Q48406327 | ||
Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis | Q48414128 | ||
Arterioles of the lenticular nucleus in CADASIL. | Q48460778 | ||
Cerebral arteriolar pathology in a 32-year-old patient with CADASIL. | Q48462930 | ||
Cognitive alterations in non-demented CADASIL patients | Q48487811 | ||
Mouse Notch 3 expression in the pre- and postnatal brain: relationship to the stroke and dementia syndrome CADASIL. | Q48542031 | ||
Ophthalmologic findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a cross-sectional study | Q48605203 | ||
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | Q48665100 | ||
The pattern of cognitive performance in CADASIL: a monogenic condition leading to subcortical ischemic vascular dementia | Q48709532 | ||
Large cerebral artery involvement in CADASIL. | Q48717976 | ||
Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese | Q48726586 | ||
P433 | issue | 5 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 525-544 | |
P577 | publication date | 2014-09-01 | |
P1433 | published in | Brain Pathology | Q4955776 |
P1476 | title | CADASIL and CARASIL. | |
P478 | volume | 24 |
Q53248522 | A Next-Generation Sequencing of the NOTCH3 and HTRA1 Genes in CADASIL Patients. |
Q88242961 | A Unique Case with Oral Dyskinesia, Chorea, Ataxia, and Mild Cognitive Impairment with Caudate Atrophy and Characteristic Brain Calcifications |
Q89475149 | A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration |
Q57023036 | Blood-Brain Barrier: From Physiology to Disease and Back |
Q41634274 | CADASIL Presenting as Acute Bilateral Multiple Subcortical Infarcts without a Characteristic Temporal Pole or Any External Capsule Lesions. |
Q48486008 | CADASIL and multiple sclerosis: A case report of prolonged misdiagnosis |
Q38672393 | CADASIL mutant NOTCH3(R90C) decreases the viability of HS683 oligodendrocytes via apoptosis |
Q38663098 | CADASIL: Treatment and Management Options. |
Q57494696 | Cerebral Small Vessel Disease: A Review Focusing on Pathophysiology, Biomarkers, and Machine Learning Strategies |
Q57456322 | Cerebrovascular disorders associated with genetic lesions |
Q95840655 | Clinical and Genetic Aspects of CADASIL |
Q36627110 | Clinical-pathologic correlations in vascular cognitive impairment and dementia |
Q96954034 | Cognitive performance in asymptomatic carriers of mutations R1031C and R141C in CADASIL |
Q92643428 | Combined network pharmacology and virtual reverse pharmacology approaches for identification of potential targets to treat vascular dementia |
Q55024983 | Connective tissue growth factor (CTGF) in age-related vascular pathologies. |
Q36593206 | Consensus statement for diagnosis of subcortical small vessel disease |
Q51740449 | Differences in proliferation rate between CADASIL and control vascular smooth muscle cells are related to increased TGFβ expression. |
Q95644037 | Genetically confirmed CARASIL: A case report with a novel HTRA1 mutation and literature review |
Q48173961 | Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014. |
Q51499978 | Histopathologic Analysis of Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL): A Report of a New Genetically Confirmed Case and Comparison to 2 Previous Cases. |
Q89980521 | Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report |
Q92501743 | Investigating diagnostic sequencing techniques for CADASIL diagnosis |
Q43228018 | Loss of HtrA1-induced attenuation of TGF-β signaling in fibroblasts might not be the main mechanism of CARASIL pathogenesis. |
Q91657393 | Loss of the serine protease HTRA1 impairs smooth muscle cells maturation |
Q89287820 | Monogenic, Polygenic, and MicroRNA Markers for Ischemic Stroke |
Q42249308 | Neoplastic lesions in CADASIL syndrome: report of an autopsied Japanese case. |
Q92557960 | Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features |
Q38297016 | Pathogenesis and treatment of vascular cognitive impairment |
Q36593214 | Perturbations of the cerebrovascular matrisome: A convergent mechanism in small vessel disease of the brain? |
Q89604927 | Plasma Endostatin Levels at Acute Phase of Ischemic Stroke Are Associated with Post-Stroke Cognitive Impairment |
Q55266481 | Proteomics analysis identifies new markers associated with capillary cerebral amyloid angiopathy in Alzheimer's disease. |
Q91669321 | Proteostasis in Cerebral Small Vessel Disease |
Q36303794 | Recognizing CADASIL: a Secondary Cause of Migraine with Aura |
Q36741200 | Role of physical exercise in Alzheimer's disease |
Q64118319 | Serum Neurofilament light correlates with CADASIL disease severity and survival |
Q88998644 | Stem Cell Factor in Combination with Granulocyte Colony-Stimulating Factor reduces Cerebral Capillary Thrombosis in a Mouse Model of CADASIL |
Q33646649 | Study of Enhanced Depth Imaging Optical Coherence Tomography in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy |
Q36922449 | The comparisons of phenotype and genotype between CADASIL and CADASIL-like patients and population-specific evaluation of CADASIL scale in China |
Q36348596 | The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease |
Q34544980 | The pathobiology of vascular malformations: insights from human and model organism genetics |
Q57811191 | Understanding the role of the perivascular space in cerebral small vessel disease |
Q92812977 | Vascular cognitive impairment associated with NOTCH3 Exon 33 mutation: A case report |
Q30893715 | White matter hyperintensities, cognitive impairment and dementia: an update |
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