1 |
A new Italian family with HTRA1 mutation associated with autosomal-dominant variant of CARASIL: Are we pointing towards a disease spectrum?
25
|
Favaretto S...Baracchini C
|
30447605 |
2019 |
2 |
HTRA1 Mutations Identified in Symptomatic Carriers Have the Property of Interfering the Trimer-Dependent Activation Cascade.
25
|
Uemura M...Onodera O
|
31316458 |
2019 |
3 |
Histopathologic features of an autopsied patient with cerebral small vessel disease and a heterozygous HTRA1 mutation.
25
|
Ito J...Kakita A
|
29797751 |
2018 |
4 |
Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
25
|
Jonsson H...Stefansson K
|
28959963 |
2017 |
5 |
Histopathologic Analysis of Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL): A Report of a New Genetically Confirmed Case and Comparison to 2 Previous Cases.
25
|
Ito S...Murayama S
|
27634960 |
2016 |
6 |
Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).
25
|
Bugiani M...van der Knaap MS
|
27664989 |
2016 |
7 |
Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL.
25
|
Nozaki H...Onodera O
|
27164673 |
2016 |
8 |
Timing, rates and spectra of human germline mutation.
25
|
Rahbari R...Hurles ME
|
26656846 |
2016 |
9 |
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
25
|
Verdura E...Tournier-Lasserve E
|
26063658 |
2015 |
10 |
Characteristic features and progression of abnormalities on MRI for CARASIL.
25
|
Nozaki H...Onodera O
|
26138950 |
2015 |
11 |
Features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.
25
|
Nozaki H...Onodera O
|
25116877 |
2014 |
12 |
Two novel HTRA1 mutations in a European CARASIL patient.
25
|
Bianchi S...Federico A
|
24500651 |
2014 |
13 |
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).
25
|
Chen Y...Zhang X
|
23963851 |
2013 |
14 |
A novel mutation in the HTRA1 gene causes CARASIL without alopecia.
25
|
Nishimoto Y...Suzuki N
|
21482952 |
2011 |
15 |
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification.
25
|
Fukutake T
|
21215656 |
2011 |
16 |
Substrate-induced remodeling of the active site regulates human HTRA1 activity.
25
|
Truebestein L...Ehrmann M
|
21297635 |
2011 |
17 |
A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population.
25
|
Mendioroz M...Montaner J
|
21115960 |
2010 |
18 |
Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals.
25
|
Adib-Samii P...Markus HS
|
20167921 |
2010 |
19 |
Cadasil.
25
|
Chabriat H...Bousser MG
|
19539236 |
2009 |
20 |
Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.
25
|
Hara K...Onodera O
|
19387015 |
2009 |
21 |
Extensive loss of arterial medial smooth muscle cells and mural extracellular matrix in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).
25
|
Oide T...Arima K
|
18021191 |
2008 |
22 |
Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL.
25
|
Low WC...Kalaria RN
|
17235124 |
2007 |
23 |
A novel hereditary small vessel disease of the brain.
25
|
Verreault S...Chabriat H
|
16404745 |
2006 |
24 |
The influence of genetic and cardiovascular risk factors on the CADASIL phenotype.
25
|
Singhal S...Markus HS
|
15229130 |
2004 |
25 |
HtrA1 serine protease inhibits signaling mediated by Tgfbeta family proteins.
25
|
Oka C...Kawaichi M
|
14973287 |
2004 |
26 |
Pathology of the cerebral artery in Binswanger's disease in the aged: observation by serial sections and morphometry of the cerebral arteries.
25
|
Okeda R...Kuroiwa T
|
15068169 |
2004 |
27 |
The HtrA family of proteases: implications for protein composition and cell fate.
25
|
Clausen T...Ehrmann M
|
12408815 |
2002 |
28 |
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.
25
|
Yanagawa S...Ikeda S
|
11889251 |
2002 |
29 |
Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension.
25
|
Fukutake T...Hirayama K
|
7796840 |
1995 |
30 |
HTRA1 Disorder
61
|
Onodera O...Fukutake T
|
20437615 |
2010 |