(Q30861866)

English

CADASIL and CARASIL.

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

27 June 2017

1 reference

Europe PubMed Central

CADASIL and CARASIL. (English)

1 reference

Europe PubMed Central

27 June 2017

Emmanuel Cognat

object named as

Emmanuel Cognat

9

0 references

Minna Pöyhönen

object named as

Minna Pöyhönen

5

0 references

object named as

Marc Baumann

2

0 references

object named as

Anne Joutel

10

0 references

author name string

Saara Tikka

1

1 reference

Europe PubMed Central

27 June 2017

Maija Siitonen

3

1 reference

Europe PubMed Central

27 June 2017

Petra Pasanen

4

1 reference

Europe PubMed Central

27 June 2017

Liisa Myllykangas

6

1 reference

Europe PubMed Central

27 June 2017

Matti Viitanen

7

1 reference

Europe PubMed Central

27 June 2017

Toshio Fukutake

8

1 reference

Europe PubMed Central

27 June 2017

Hannu Kalimo

11

1 reference

Europe PubMed Central

27 June 2017

language of work or name

0 references

publication date

1 September 2014

1 reference

Europe PubMed Central

27 June 2017

Brain Pathology

1 reference

Europe PubMed Central

27 June 2017

24

1 reference

Europe PubMed Central

27 June 2017

5

1 reference

Europe PubMed Central

27 June 2017

525-544

1 reference

Europe PubMed Central

27 June 2017

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Insidious cognitive decline in CADASIL.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

CADASIL mutations impair Notch3 glycosylation by Fringe

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome).

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Two novel HTRA1 mutations in a European CARASIL patient

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Selective use of ADAM10 and ADAM17 in activation of Notch1 signaling

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Clinical severity in CADASIL related to ultrastructural damage in white matter: in vivo study with diffusion tensor MRI.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Cerebral hemodynamics in CADASIL before and after acetazolamide challenge assessed with MRI bolus tracking.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

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).

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Large cerebral artery involvement in CADASIL.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Screening for NOTCH3 gene mutations among 151 consecutive Korean patients with acute ischemic stroke.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Early white matter changes in CADASIL: evidence of segmental intramyelinic oedema in a pre-clinical mouse model

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Cognition in CADASIL.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Donepezil in patients with subcortical vascular cognitive impairment: a randomised double-blind trial in CADASIL.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Bidirectional encroachment of collagen into the tunica media in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Impaired vascular mechanotransduction in a transgenic mouse model of CADASIL arteriopathy

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

An extracellular region of Serrate is essential for ligand-induced cis-inhibition of Notch signaling

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Acetazolamide for the treatment of migraine with aura in CADASIL.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Notch signalling in smooth muscle cells during development and disease

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Transcriptome analysis for Notch3 target genes identifies Grip2 as a novel regulator of myogenic response in the cerebrovasculature

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Characteristic features of in vivo skin microvascular reactivity in CADASIL.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Functional analysis of a recurrent missense mutation in Notch3 in CADASIL

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Scanning laser Doppler flowmetry shows reduced retinal capillary blood flow in CADASIL.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Childhood-onset CADASIL: clinical, imaging, and neurocognitive features.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Exon-skipping therapy: a roadblock, detour, or bump in the road?

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Proteome analysis of cultivated vascular smooth muscle cells from a CADASIL patient.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Notch signaling regulates platelet-derived growth factor receptor-beta expression in vascular smooth muscle cells.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

De novo mutation in theNotch3 gene causing CADASIL

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Cholinergic neuronal deficits in CADASIL.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Functional redundancy of the Notch gene family during mouse embryogenesis: analysis of Notch gene expression in Notch3-deficient mice.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Characterization of Notch3-deficient mice: normal embryonic development and absence of genetic interactions with a Notch1 mutation

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

The vascular smooth muscle cell in arterial pathology: a cell that can take on multiple roles

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Impaired cerebral vasoreactivity in a transgenic mouse model of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy arteriopathy

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Vascular fibrosis in atherosclerosis

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Cerebral microbleeds in CADASIL.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Spontaneous intracerebral hemorrhage in CADASIL

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Lacunar infarcts are the main correlate with cognitive dysfunction in CADASIL.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

The Notch1 receptor is cleaved constitutively by a furin-like convertase

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

CADASIL-causing mutations do not alter Notch3 receptor processing and activation

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Cerebral arteriolar pathology in a 32-year-old patient with CADASIL.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Arterioles of the lenticular nucleus in CADASIL.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Two Japanese CADASIL families exhibiting Notch3 mutation R75P not involving cysteine residue

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Role of electron microscopy in the diagnosis of cadasil syndrome: a study of 32 patients

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Detection of the founder effect in Finnish CADASIL families

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Different clinical phenotypes in monozygotic CADASIL twins with a novel NOTCH3 mutation

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

The minimum prevalence of CADASIL in northeast England.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

DSL ligand endocytosis physically dissociates Notch1 heterodimers before activating proteolysis can occur

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Amyloid-like aggregates sequester numerous metastable proteins with essential cellular functions

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Cerebral white matter is highly vulnerable to ischemia

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

The pattern of cognitive performance in CADASIL: a monogenic condition leading to subcortical ischemic vascular dementia.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Effects of short term atorvastatin treatment on cerebral hemodynamics in CADASIL.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Mouse Notch 3 expression in the pre- and postnatal brain: relationship to the stroke and dementia syndrome CADASIL.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

"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

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Apathy: a major symptom in CADASIL.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Cerebral hemorrhages in CADASIL: report of four cases and a brief review

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Neurologic symptoms are common during gestation and puerperium in CADASIL.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Ophthalmologic findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a cross-sectional study.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Transgenic mice expressing mutant Notch3 develop vascular alterations characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Neuroimaging of cerebral small vessel disease

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Allele-specific silencing of mutant Ataxin-7 in SCA7 patient-derived fibroblasts

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-β1 via cleavage of proTGF-β1.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

The influence of genetic and cardiovascular risk factors on the CADASIL phenotype

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Impaired endothelial function of forearm resistance arteries in CADASIL patients

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Cognitive alterations in non-demented CADASIL patients.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Regulation of postnatal bone homeostasis by TGFβ

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

CADASIL mutations and shRNA silencing of NOTCH3 affect actin organization in cultured vascular smooth muscle cells

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

LTBPs, more than just an escort service.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Positron emission tomography examination of cerebral blood flow and glucose metabolism in young CADASIL patients

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical feature

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Homozygosity and severity of phenotypic presentation in a CADASIL family.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

An unusual case of elderly-onset cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with multiple cerebrovascular risk factors.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Transendocytosis is impaired in CADASIL-mutant NOTCH3.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Brain microvascular accumulation and distribution of the NOTCH3 ectodomain and granular osmiophilic material in CADASIL.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

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”

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASIL

1 reference

https://api.crossref.org/works/10.1111%2FBPA.12181

21 January 2018

Identifiers

10.1111/BPA.12181

1 reference

Europe PubMed Central

27 June 2017

1 reference

Europe PubMed Central

27 June 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q30861866&oldid=1546892858"