2014

2013

 2012

2011

2010

2009

2008

2007

2006

Characteristic features of in vivo skin microvascular reactivity in CADASIL

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

Topic 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.

 

2005

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

Outline CADASIL

Neurologic symptoms are common during gestation and puerperium in CADASIL

Genetics Home Reference

 

2004

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

 

2003

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.

 

2002

Diagnostic strategies in CADASIL

Subcortical Lacunar Lesions: An MR Imaging Finding in Patients with CADASIL

Lessons from CADASIL.

 

2001

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

 

2000

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

1999

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.


1998

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

 

1997

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

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