Website Research papers
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CADASIL: a critical look at a Notch disease.
Structural MR Imaging Changes and Apolipoprotein E Genotype
A chemical shift imaging study on regional metabolite distribution in a CADASIL family
CADASIL-causing mutations do not alter Notch3 receptor processing and activation
Characteristic features of in vivo skin microvascular reactivity in CADASIL.
The cognitive profiles of CADASIL and sporadic small vessel disease
CADASIL versus multiple sclerosis
Critical look at a Notch disease
Characteristic MR Lesion Pattern and Correlation of T1 and T2 Lesion
Control of Tissue Patterning and Growth During Development
National Organization of Rare Disease USA
Skin biopsy findings in CADASIL
United Leukodystrophy Foundation
Blood pressure and haemoglobin A1c are associated with microhaemorrhage in CADASIL: a two-centre cohort study.
Two novel mutations in the NOTCH3 gene in Chinese.
Peripheral neuropathy in CADASIL.
Is inadequate family history a barrier to diagnosis in CADASIL?
Impaired cerebral vasoreactivity in a transgenic mouse model of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy arteriopathy
The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.
Neurologic symptoms are common during gestation and puerperium in CADASIL.
Early visual function impairment in CADASIL.
Typical pathological changes of CADASIL in the optic nerve.
CADASIL: A Critical Look at a Notch Disease
Cerebral autosomal dominant arteriopathy with subcortical infarcts and Leukoencephalopathy (CADASIL): a hereditary cerebrovascular disease, which can be diagnosed by skin biopsy electron microscopy.
Donepezil HCl in the Treatment of Subjects With Cognitive Impairment Associated CADASIL
An Animal Model for the Molecular Genetics of CADASIL
Behavioral analysis of transgenic animals
Damage within a network of white matter regions underlies executive dysfunction in CADASIL
Functional analysis of a recurrent missense mutation in Notch3 in CADASIL
Large cerebral artery involvement in CADASIL
L-Arginine improves the symptoms of strokelike episodes in MELAS
Prognostic value of domain-specific cognitive abilities in acute first-ever stroke
Neurologic symptoms are common during gestation and puerperium in CADASIL
Genetics Home Reference
Abnormal Vasoconstrictor Responses to Angiotensin II and Noradrenaline in Isolated small Arteries From Patients With CADASIL
Histopathological abnormalities in ocular blood vessels of CADASIL patients.
Controlling hormones could reduce risk of strokes in younger people
Diffusion tensor imaging of thalamus correlates with cognition in CADASIL without dementia
Electrocardiogram in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Patients Without
Any Clinical Evidence of Coronary Artery Disease. A Case-Control Study April 2006
Hereditary dementia with intracerebral hemorrhages and cerebral amyloid angiopathy
Mice carrying a R142C Notch 3 knock-in mutation do not develop a CADASIL-like phenotype.
Influence of genetic and cardiovascular risk factors on the CADASIL phenotype
New Research Could Reduce Risk of Strokes in Younger People
Early visual function impairment in CADASIL
Cholinergic denervation in a pure multi-infarct state: Observations on CADASIL
Volume with Neurologic and Neuropsychological Findings in CADASIL
"CADASIL coma": an underdiagnosed acute encephalopathy.
Diagnostic strategies in CADASIL
Subcortical Lacunar Lesions: An MR Imaging Finding in Patients with CADASIL
Lessons from CADASIL.
Decrease in Regional Cerebral Blood Volume in Hyperintense Subcortical Lesions Inversely
Correlates with Disability and Cognitive Performance
Differential Lesion Patterns in CADASIL and Sporadic Subcortical Arteriosclerotic Encephalopathy:
MR Imaging Study with Statistical Parametric Group Comparison1
A magnetic resonance imaging study of the cervical cord of patients with CADASIL
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy): an Australian perspective.
Expression patterns of Notch1, Notch2, and Notch3 suggest multiple functional roles for the Notch-DSL signaling system during brain development.
Notch signaling during vascular development
Mitochondrial dysfunction associated with a mutation in the Notch3 gene in a CADASIL family
Vascular expression of Notch pathway receptors and ligands is restricted to arterial vessels
Nocturnal blood pressure dip in CADASIL
Notch signaling and inherited disease syndromes
NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL
No association between multiple sclerosis and the Notch3 gene responsible for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Altered white and gray matter metabolism in CADASIL
Genetics and ischaemic stroke
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy): diagnostic skin biopsy changes determined by electron microscopy.
Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content.
Notch signaling defect or protein accumulation problem?
Migraine with aura and white matter abnormalities: Notch3 mutation
Description of a simple test for CADASIL disease and determination of mutation frequencies in sporadic ischaemic stroke and dementia patients.
Vascular dementia today.
Analysis of HeyL expression in wild-type and Notch pathway mutant mouse embryos.
CADASIL: hereditary arteriopathy leading to multiple brain infarcts and dementia.
Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains
Muscle and skin biopsies are a sensitive diagnostic tool in the diagnosis of CADASIL.
CADASIL: hereditary disease of arteries causing brain infarcts and dementia.
The natural history of CADASIL: a pooled analysis of previously published cases.
Young-adult-onset hereditary subcortical vascular dementia: cerebral autosomal recessive arteriosclerosis with subcortical infarcts and leukoencephalopathy (CARASIL)]
Clinical aspects, neuroradiology, genetics and diagnosis]
Brain stem MRI signal abnormalities in CADASIL.
CADASIL syndrome: a genetic form of vascular dementia.
Notch signaling pathway and human diseases.
The phenotypic spectrum of CADASIL: clinical findings in 102 cases.
Epidemiology of vascular dementia.
Patterns of MRI lesions in CADASIL
differential diagnosis of a vascular leukoencephalopathy within a CADASIL family: use of skin biopsy electron microscopy study and direct genotypic screening
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients.
Notch3 mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a mendelian condition causing stroke and vascular dementia.
Notch3 mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a mendelian condition causing stroke and vascular dementia