Top-NOTCH3 variants in the Population at large
RN Kalaria, SJ Kittner - Stroke, 2020 - Am Heart Assoc
NOTCH3 gene mutations are diagnostic for the most common hereditary cerebral small
vessel disease (SVD), cerebral autosomal dominant arteriopathy with subcortical infarcts …
vessel disease (SVD), cerebral autosomal dominant arteriopathy with subcortical infarcts …
A homozygote TREX1 mutation in two siblings with different phenotypes: chilblains and cerebral vasculitis
RMK Ekinci, S Balci, A Bisgin, DU Altintas… - European journal of …, 2017 - Elsevier
Three prime repair exonuclease 1 degrades single and double stranded DNA with 3′-5′
nuclease activity and its mutations are related to type 1 IFN mediated autoinflammation due …
nuclease activity and its mutations are related to type 1 IFN mediated autoinflammation due …
Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis
Y Dong, A Hassan, Z Zhang, D Huber, C Dalageorgou… - Stroke, 2003 - Am Heart Assoc
Background and Purpose—Cerebral autosomal dominant arteriopathy subcortical infarcts
and leukoencephalopathy (CADASIL) is a monogenic disorder typified by early onset …
and leukoencephalopathy (CADASIL) is a monogenic disorder typified by early onset …
Successful use of intravenous tissue plasminogen activator as treatment for a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and …
Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL) is considered a common cause of hereditary stroke …
leukoencephalopathy (CADASIL) is considered a common cause of hereditary stroke …
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with a novel NOTCH3 Cys323Trp mutation presenting border-zone …
M Tojima, S Saito, Y Yamamoto, T Mizuno… - Journal of Stroke and …, 2016 - Elsevier
Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL) is a hereditary and progressive small-vessel disease …
leukoencephalopathy (CADASIL) is a hereditary and progressive small-vessel disease …
Novel Cysteine-Sparing Hypomorphic NOTCH3 A1604T Mutation Observed in a Family With Migraine and White Matter Lesions
S Arnardottir, F Del Gaudio, S Klironomos… - Neurology …, 2021 - AAN Enterprises
Objective To conduct a clinical study of a family with neurologic symptoms and findings
carrying a novel NOTCH3 mutation and to analyze the molecular consequences of the …
carrying a novel NOTCH3 mutation and to analyze the molecular consequences of the …
R558C NOTCH3 mutation in a CADASIL patient with intracerebral hemorrhage: a case report with literature review
L Hu, G Liu, Y Fan - Journal of Stroke and Cerebrovascular Diseases, 2022 - Elsevier
Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL) is a monogenic cerebral small-vessel disease, which is …
leukoencephalopathy (CADASIL) is a monogenic cerebral small-vessel disease, which is …
A novel Notch3 deletion mutation in a Chinese patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
F Weiming, W Yuliang, L Youjie, L Xinsheng… - Journal of Clinical …, 2013 - Elsevier
Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leucoencephalopathy (CADASIL) is a rare autosomal dominant hereditary cerebrovascular …
leucoencephalopathy (CADASIL) is a rare autosomal dominant hereditary cerebrovascular …
Case of CADASIL showing spontaneous subcortical hemorrhage with a novel mutation of Notch3 gene
S Kotorii, H Goto, T Kondo, H Matsuo… - Rinsho Shinkeigaku …, 2006 - europepmc.org
The case of a 72-year-old demented woman having episodes of strokes without any risk
factors for cardiovascular disease is reported. Her elder brother and sister have also had …
factors for cardiovascular disease is reported. Her elder brother and sister have also had …
NOTCH3 gene mutations in four Chinese families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
ZX Wang, H Lu, Y Zhang, DF Bu, XY Niu… - Zhonghua yi xue za …, 2004 - europepmc.org
Objectives To search for mutations in NOTCH3 gene in four Chinese families with cerebral
autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy …
autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy …