Heterozygous HTRA1 missense mutation in CADASIL-like family disease. (Q52644904)

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scientific article published on 15 March 2018

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English	Heterozygous HTRA1 missense mutation in CADASIL-like family disease.	scientific article published on 15 March 2018

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scholarly article

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Europe PubMed Central

PMC publication ID

5875909

retrieved

5 May 2018

reference URL

http://europepmc.org/abstract/PMC/5875909

title

Heterozygous HTRA1 missense mutation in CADASIL-like family disease. (English)

1 reference

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Europe PubMed Central

PMC publication ID

5875909

retrieved

5 May 2018

reference URL

http://europepmc.org/abstract/PMC/5875909

main subject

heterozygosity

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author name string

Xiaowei Wu

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1

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Europe PubMed Central

PMC publication ID

5875909

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5 May 2018

reference URL

http://europepmc.org/abstract/PMC/5875909

Changxin Li

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2

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Europe PubMed Central

PMC publication ID

5875909

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5 May 2018

reference URL

http://europepmc.org/abstract/PMC/5875909

Jinming Mao

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3

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Europe PubMed Central

PMC publication ID

5875909

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5 May 2018

reference URL

http://europepmc.org/abstract/PMC/5875909

Ling Li

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4

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Europe PubMed Central

PMC publication ID

5875909

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5 May 2018

reference URL

http://europepmc.org/abstract/PMC/5875909

Yan Liu

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5

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Europe PubMed Central

PMC publication ID

5875909

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5 May 2018

reference URL

http://europepmc.org/abstract/PMC/5875909

Yao Hou

series ordinal

6

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Europe PubMed Central

PMC publication ID

5875909

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5 May 2018

reference URL

http://europepmc.org/abstract/PMC/5875909

language of work or name

English

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publication date

15 March 2018

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Europe PubMed Central

PMC publication ID

5875909

retrieved

5 May 2018

reference URL

http://europepmc.org/abstract/PMC/5875909

published in

Brazilian Journal of Medical and Biological Research

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Europe PubMed Central

PMC publication ID

5875909

retrieved

5 May 2018

reference URL

http://europepmc.org/abstract/PMC/5875909

volume

51

1 reference

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Europe PubMed Central

PMC publication ID

5875909

retrieved

5 May 2018

reference URL

http://europepmc.org/abstract/PMC/5875909

issue

5

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Europe PubMed Central

PMC publication ID

5875909

retrieved

5 May 2018

reference URL

http://europepmc.org/abstract/PMC/5875909

page(s)

e6632

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Europe PubMed Central

PMC publication ID

5875909

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5 May 2018

reference URL

http://europepmc.org/abstract/PMC/5875909

cites work

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease

1 reference

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PubMed Central

reference URL

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22 May 2018

Microvascular pathology and morphometrics of sporadic and hereditary small vessel diseases of the brain

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22 May 2018

Features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

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22 May 2018

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

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22 May 2018

Mechanisms of sporadic cerebral small vessel disease: insights from neuroimaging

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PubMed Central

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22 May 2018

Hereditary cerebral small vessel diseases: a review

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22 May 2018

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

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22 May 2018

Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients

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PubMed Central

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22 May 2018

The HtrA Family of Proteases

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5875909

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22 May 2018

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

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5875909

retrieved

22 May 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

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5875909

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13 August 2018

Quantitative vascular pathology and phenotyping familial and sporadic cerebral small vessel diseases.

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13 August 2018

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

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PubMed Central

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13 August 2018

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

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13 August 2018

Role of COL4A1 in small-vessel disease and hemorrhagic stroke

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13 August 2018

Two novel HTRA1 mutations in a European CARASIL patient

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5875909

retrieved

30 November 2018

A novel mutation in the HTRA1 gene causes CARASIL without alopecia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/29561953

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1590/1414-431X20176632

1 reference

stated in

Europe PubMed Central

PMC publication ID

5875909

retrieved

5 May 2018

reference URL

http://europepmc.org/abstract/PMC/5875909

PMC publication ID

5875909

1 reference

stated in

Europe PubMed Central

PMC publication ID

5875909

retrieved

5 May 2018

reference URL

http://europepmc.org/abstract/PMC/5875909

PubMed publication ID

29561953

1 reference

stated in

Europe PubMed Central

PMC publication ID

5875909

retrieved

5 May 2018

reference URL

http://europepmc.org/abstract/PMC/5875909

 

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