[HTML][HTML] Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on …

I Di Donato, S Bianchi, N De Stefano, M Dichgans… - BMC medicine, 2017 - Springer
Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL) is the most common and best known monogenic small …

[HTML][HTML] Update on the epidemiology, pathogenesis, and biomarkers of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Y Yamamoto, YC Liao, YC Lee, M Ihara… - Journal of Clinical …, 2023 - ncbi.nlm.nih.gov
Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL) is the most common monogenic disorder of the cerebral …

Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL

JW Rutten, HG Dauwerse, G Gravesteijn… - Annals of clinical …, 2016 - Wiley Online Library
Objective To determine the frequency of distinctive EGF r cysteine altering NOTCH 3
mutations in the 60,706 exomes of the exome aggregation consortium (Ex AC) database …

Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction

RJ Hack, G Gravesteijn, MN Cerfontaine, MA Santcroos… - Brain, 2023 - academic.oup.com
Cysteine-altering missense variants (NOTCH3 cys) in one of the 34 epidermal growth-factor-
like repeat (EGFr) domains of the NOTCH3 protein are the cause of NOTCH3-associated …

[HTML][HTML] Clinical and genetic aspects of CADASIL

T Mizuno, I Mizuta, A Watanabe-Hosomi… - Frontiers in aging …, 2020 - frontiersin.org
Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL), a hereditary cerebral small vessel disease caused by …

Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors

C Dupé, S Guey, L Biard, S Dieng… - Journal of Cerebral …, 2023 - journals.sagepub.com
The recent discovery that the prevalence of cysteine mutations in the NOTCH3 gene
responsible for CADASIL was more than 100 times higher in the general population than …

[HTML][HTML] Characterization of CADASIL among the Han Chinese in Taiwan: distinct genotypic and phenotypic profiles

YC Liao, CT Hsiao, JL Fuh, CM Chern, WJ Lee… - PloS one, 2015 - journals.plos.org
Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL) is originally featured with a strong clustering of mutations …

Predictors of clinical worsening in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: prospective cohort study

H Chabriat, D Hervé, M Duering, O Godin, E Jouvent… - Stroke, 2016 - Am Heart Assoc
Background and Purpose—Predictors of clinical worsening in cerebral autosomal dominant
arteriopathy with subcortical infarcts and leukoencephalopathy remain unknown. This study …

[HTML][HTML] Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL

E Muiño, C Gallego-Fabrega, N Cullell… - International journal of …, 2017 - mdpi.com
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy) is caused by mutations in the NOTCH3 gene, affecting the number of …

CADASIL: yesterday, today, tomorrow

H Chabriat, A Joutel… - European journal of …, 2020 - Wiley Online Library
Background and purpose In 2019, the Brain Prize crowned the discovery of CADASIL in the
1990s and research efforts on this archetypal small vessel disease of the brain over 40 …