ArchetypalNOTCH3mutations frequent in public exome: implications for CADASIL

On the Diagnosis of CADASIL

(2017) Israel Ampuero et al.   JOURNAL OF ALZHEIMERS DISEASE

Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family

(2016) Hussam Abou Al-Shaar et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Quantifying prion disease penetrance using large population control cohorts

(2016) Eric Vallabh Minikel et al.   Science Translational Medicine

NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients

(2015) Cindy W. Yoon et al.   NEUROBIOLOGY OF AGING

Changing clinical patterns and increasing prevalence in CADASIL

(2014) F. C. Moreton et al.   ACTA NEUROLOGICA SCANDINAVICA

Adult-onset genetic leukoencephalopathies: A MRI pattern-based approach in a comprehensive study of 154 patients

(2014) Xavier Ayrignac et al.   BRAIN

Interpretation ofNOTCH3mutations in the diagnosis of CADASIL

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

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Phenotypic and mutational spectrum in patients from mainland China

(2014) Xinzhen Yin et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients

(2014) Silvia Bianchi et al.   JOURNAL OF NEUROLOGY

Sequestration of latent TGF-β binding protein 1 into CADASIL-related Notch3-ECD deposits

(2014) Jessica Kast et al.   Acta Neuropathologica Communications

Abnormal recruitment of extracellular matrix proteins by excess Notch3ECD: a new pathomechanism in CADASIL

(2013) Marie Monet-Leprêtre et al.   BRAIN

Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

(2013) Young-Eun Kim et al.   NEUROBIOLOGY OF AGING

The minimum prevalence of CADASIL in northeast England

(2012) S. K. Narayan et al.   NEUROLOGY

Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease

(2011) H. Schmidt et al.   BRAIN

Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis

(2011) Marco Duering et al.   HUMAN MOLECULAR GENETICS

CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation

(2011) P. Bentley et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2010) Poneh Adib-Samii et al.   STROKE

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

Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese

(2009) Y.-C. Lee et al.   JOURNAL OF NEUROLOGY

CADASIL

(2009) Hugues Chabriat et al.   LANCET NEUROLOGY

MRI correlates of cognitive decline in CADASIL: A 7-year follow-up study

(2009) M. K. Liem et al.   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