Interpretation ofNOTCH3mutations in the diagnosis of CADASIL

Archetypal Arg169Cys Mutation in NOTCH3 Does Not Drive the Pathogenesis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leucoencephalopathy via a Loss-of-Function Mechanism

(2014) Emmanuel Cognat et al.   STROKE

Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

(2013) John A. Martignetti et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2013) Marie Monet-Leprêtre et al.   BRAIN

Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans

(2013) Julie W. Rutten et al.   HUMAN MUTATION

A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain

(2013) Bing-Wen Soong et al.   Journal of the Chinese Medical Association

The first deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL

(2013) Silvia Bianchi et al.   NEUROBIOLOGY OF AGING

Homozygosity and severity of phenotypic presentation in a CADASIL family

(2013) Claudia Vinciguerra et al.   NEUROLOGICAL SCIENCES

“CADASIL coma” in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in age-matched heterozygous patients with the same G528C NOTCH3 mutation

(2013) Michele Ragno et al.   NEUROLOGICAL SCIENCES

Role of Electron Microscopy in the Diagnosis of Cadasil Syndrome: A Study of 32 Patients

(2013) Manrico Morroni et al.   PLoS One

NOTCH3 Variants and Risk of Ischemic Stroke

(2013) Owen A. Ross et al.   PLoS One

A novel Notch3 deletion mutation in a Chinese patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)

(2012) Fan Weiming et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Two novel mutations and a previously unreported intronic polymorphism in the NOTCH3 gene

(2012) B. Roy et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

The minimum prevalence of CADASIL in northeast England

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

Skin and Sural Nerve Biopsies: Ultrastructural Findings in the First Genetically Confirmed Cases of CADASIL in Serbia

(2012) Vesna Lackovic et al.   ULTRASTRUCTURAL PATHOLOGY

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Affecting an African American Man

(2011) Soo Jung Lee   ARCHIVES OF 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

NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL

(2010) Z. Wang 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

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

(2009) Saara Tikka et al.   BRAIN

Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms

(2009) M. K. Liem et al.   JOURNAL OF NEUROLOGY

CADASIL

(2009) Hugues Chabriat et al.   LANCET NEUROLOGY

CYSTEINE-SPARING NOTCH3 MUTATIONS: CADASIL OR CADASIL VARIANTS?

(2009) A. Quattrone et al.   NEUROLOGY

Apathy: A major symptom in CADASIL

(2009) S. Reyes et al.   NEUROLOGY

Case 12-2009

(2009) Steven D. Brass et al.   NEW ENGLAND JOURNAL OF MEDICINE

Different Clinical Phenotypes in Monozygotic CADASIL Twins With a Novel NOTCH3 Mutation

(2009) Kati Mykkänen et al.   STROKE

Activating NOTCH3 mutation in a patient with small-vessel-disease of the Brain

(2008) Charles Fouillade et al.   HUMAN MUTATION

Two Japanese CADASIL Families Exhibiting Notch3 Mutation R75P Not Involving Cysteine Residue

(2008) Toshiki Mizuno et al.   INTERNAL MEDICINE

CADASIL: Extended polymorphisms and mutational analysis of the NOTCH3 gene

(2008) C. Ungaro et al.   JOURNAL OF NEUROSCIENCE RESEARCH

CYSTEINE-SPARING NOTCH3 MUTATIONS: CADASIL OR CADASIL VARIANTS?

(2008) R. Scheid et al.   NEUROLOGY

First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL

(2007) R Mazzei et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

An overview of Notch3 function in vascular smooth muscle cells

(2007) Tao Wang et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY