(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

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

12 June 2020

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21 January 2018

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21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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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

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21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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Role of COL4A1 in small-vessel disease and hemorrhagic stroke

21 January 2018

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

21 January 2018

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Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome

21 January 2018

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COL4A2 mutation associated with familial porencephaly and small-vessel disease

21 January 2018

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

21 January 2018

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

21 January 2018

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Narrative review: Fabry disease

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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Enzyme replacement therapy in Fabry disease: a randomized controlled trial

21 January 2018

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Foxc1 is required by pericytes during fetal brain angiogenesis.

21 January 2018

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21 January 2018

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21 January 2018

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Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

21 January 2018

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Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Self-propagation of pathogenic protein aggregates in neurodegenerative diseases

21 January 2018

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21 January 2018

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Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

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Exome sequencing as a tool for Mendelian disease gene discovery

21 January 2018

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COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy

21 January 2018

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21 January 2018

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21 January 2018

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12 December 2020

Longitudinally extensive spinal cord infarction in CADASIL

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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12 December 2020

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

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12 December 2020

The phenotypic spectrum of CADASIL: clinical findings in 102 cases

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020