The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

ArchetypalNOTCH3mutations frequent in public exome: implications for CADASIL

(2016) Julie W. Rutten et al.   Annals of Clinical and Translational Neurology

APOE ɛ2 is associated with white matter hyperintensity volume in CADASIL

(2015) Benno Gesierich et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Predictors of Clinical Worsening in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

(2015) Hugues Chabriat et al.   STROKE

Interpretation ofNOTCH3mutations in the diagnosis of CADASIL

(2014) Julie W Rutten et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Genome-Wide Genotyping Demonstrates a Polygenic Risk Score Associated With White Matter Hyperintensity Volume in CADASIL

(2014) Christian Opherk et al.   STROKE

Guidelines for the Prevention of Stroke in Patients With Stroke and Transient Ischemic Attack

(2014) Walter N. Kernan et al.   STROKE

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

(2011) J. F. Arboleda-Velasquez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical Spectrum of CADASIL and the Effect of Cardiovascular Risk Factors on Phenotype

(2010) Poneh Adib-Samii et al.   STROKE

Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain

(2009) Marie Monet-Leprêtre et al.   BRAIN

The remarkably variable expressivity of CADASIL: report of a minimally symptomatic man at an advanced age

(2009) Yi-Chung Lee et al.   JOURNAL OF NEUROLOGY

CADASIL

(2009) Hugues Chabriat et al.   LANCET NEUROLOGY

A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient

(2007) Francesca Pescini et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES