(Q38513520)

3 September 2017

1 reference

title

Monogenic causes of stroke: now and the future (English)

1 reference

3 September 2017

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26037017%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

author name string

Hugh S Markus

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26037017%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

publication date

3 June 2015

1 reference

3 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26037017%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

volume

262

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26037017%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26037017%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

page(s)

2601-2616

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26037017%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00415-015-7794-4

12 June 2020

exact match

0 references

cites work

Cerebral small vessel disease: from pathogenesis and clinical characteristics to therapeutic challenges

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

The minimum prevalence of CADASIL in northeast England.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Neurologic symptoms are common during gestation and puerperium in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Cerebral microbleeds in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Heritability of MRI lesion volume in CADASIL: evidence for genetic modifiers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

New roles for the major human 3'-5' exonuclease TREX1 in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Heterozygous TREX1 mutations in early-onset cerebrovascular disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Clinical and brain MRI follow-up study of a family with COL4A1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

COL4A2 mutation associated with familial porencephaly and small-vessel disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Narrative review: Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Fabry disease and the skin: data from FOS, the Fabry outcome survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Stroke and Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Quantitative analysis of cerebral vasculopathy in patients with Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Foxc1 is required by pericytes during fetal brain angiogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Pre- and postnatal phenotype of 6p25 deletions involving theFOXC1gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Hereditary and sporadic beta-amyloidoses.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Cerebral amyloid angiopathy: a systematic review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Prevalence of superficial siderosis in patients with cerebral amyloid angiopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Cerebral microbleeds: a guide to detection and interpretation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Molecular imaging with Pittsburgh Compound B confirmed at autopsy: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Diagnostic utility of amyloid PET in cerebral amyloid angiopathy-related symptomatic intracerebral hemorrhage

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

HtrA1 serine protease inhibits signaling mediated by Tgfbeta family proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

TGF-beta signaling in vascular fibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Blood-brain barrier: ageing and microvascular disease--systematic review and meta-analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

The canonical Notch signaling pathway: unfolding the activation mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Self-propagation of pathogenic protein aggregates in neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Sequestration of latent TGF-β binding protein 1 into CADASIL-related Notch3-ECD deposits

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Clinical, familial, and neuroimaging features of CADASIL-like patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Whole-genome and whole-exome sequencing in neurological diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Exome sequencing as a tool for Mendelian disease gene discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7794-4

Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease

21 January 2018

1 reference

12 December 2020

Longitudinally extensive spinal cord infarction in CADASIL

1 reference

12 December 2020

Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke

1 reference

12 December 2020

Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers

1 reference

12 December 2020

Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis

1 reference

12 December 2020

TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy

1 reference

12 December 2020

The phenotypic spectrum of CADASIL: clinical findings in 102 cases

1 reference

12 December 2020

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

1 reference

12 December 2020

The natural history of CADASIL: a pooled analysis of previously published cases

1 reference

12 December 2020

Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations

1 reference

12 December 2020