CADASIL and CARASIL

Neuroimaging of Cerebral Small Vessel Disease

(2014) Noriko Salamon   BRAIN PATHOLOGY

Allele-specific silencing of mutant Ataxin-7 in SCA7 patient-derived fibroblasts

(2014) Janine Scholefield et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Visualization of Perivascular Spaces and Perforating Arteries With 7 T Magnetic Resonance Imaging

(2014) Willem H. Bouvy et al.   INVESTIGATIVE RADIOLOGY

Two novel HTRA1 mutations in a European CARASIL patient

(2014) S. Bianchi et al.   NEUROLOGY

Exon-Skipping Therapy: A Roadblock, Detour, or Bump in the Road?

(2014) E. P. Hoffman et al.   Science Translational Medicine

Response to Letter Regarding Article, “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

Letter by Moccia et al Regarding Article, “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) Marcello Moccia et al.   STROKE

Features of Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

(2014) Hiroaki Nozaki et al.   STROKE

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

Early white matter changes in CADASIL: evidence of segmental intramyelinic oedema in a pre-clinical mouse model

(2014) Emmanuel Cognat 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

Vascular fibrosis in atherosclerosis

(2013) Tao-Hua Lan et al.   CARDIOVASCULAR PATHOLOGY

An extracellular region of Serrate is essential for ligand-induced cis-inhibition of Notch signaling

(2013) R. J. Fleming et al.   DEVELOPMENT

Spontaneous intracerebral hemorrhage in CADASIL

(2013) Lifei Lian et al.   JOURNAL OF HEADACHE AND PAIN

A novel mutation of the high-temperature requirement A serine peptidase 1 (HTRA1) gene in a Chinese family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)

(2013) Yan Chen et al.   JOURNAL OF INTERNATIONAL MEDICAL RESEARCH

Brain Microvascular Accumulation and Distribution of the NOTCH3 Ectodomain and Granular Osmiophilic Material in CADASIL

(2013) Yumi Yamamoto et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

Cerebral hemorrhages in CADASIL: Report of four cases and a brief review

(2013) Valentina Rinnoci et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

Transcriptome Analysis for Notch3 Target Genes Identifies Grip2 as a Novel Regulator of Myogenic Response in the Cerebrovasculature

(2012) Charles Fouillade et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Bidirectional encroachment of collagen into the tunica media in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

(2012) Hairong Dong et al.   BRAIN RESEARCH

Notch signalling in smooth muscle cells during development and disease

(2012) C. Fouillade et al.   CARDIOVASCULAR RESEARCH

The vascular smooth muscle cell in arterial pathology: a cell that can take on multiple roles

(2012) P. Lacolley et al.   CARDIOVASCULAR RESEARCH

A Novel Mutation in theHTRA1Gene Identified in Chinese CARASIL Pedigree

(2012) Xiao-Ling Wang et al.   CNS Neuroscience & Therapeutics

LTBPs, more than just an escort service

(2012) Vesna Todorovic et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

CADASIL Mutations and shRNA Silencing of NOTCH3 Affect Actin Organization in Cultured Vascular Smooth Muscle Cells

(2012) Saara Tikka et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

The minimum prevalence of CADASIL in northeast England

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

Amyloid-like Aggregates Sequester Numerous Metastable Proteins with Essential Cellular Functions

(2011) Heidi Olzscha et al.   CELL

Transendocytosis is impaired in CADASIL-mutant NOTCH3

(2011) Akiko Watanabe-Hosomi et al.   EXPERIMENTAL NEUROLOGY

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

(2011) Marco Duering et al.   HUMAN MOLECULAR GENETICS

Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-β1 via cleavage of proTGF-β1

(2011) Atsushi Shiga et al.   HUMAN MOLECULAR GENETICS

Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL): From Discovery to Gene Identification

(2011) Toshio Fukutake   Journal of Stroke & Cerebrovascular Diseases

Screening for NOTCH3 Gene Mutations Among 151 Consecutive Korean Patients with Acute Ischemic Stroke

(2011) Jay Chol Choi et al.   Journal of Stroke & Cerebrovascular Diseases

Diversity of Stroke Presentation in CADASIL: Study from Patients Harboring the Predominant NOTCH3 Mutation R544C

(2011) Jay Chol Choi et al.   Journal of Stroke & Cerebrovascular Diseases

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

Control of Notch-ligand endocytosis by ligand-receptor interaction

(2010) E. M. Hansson et al.   JOURNAL OF CELL SCIENCE

Childhood-Onset CADASIL: Clinical, Imaging, and Neurocognitive Features

(2010) Jessica Hartley et al.   JOURNAL OF CHILD NEUROLOGY

Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease

(2010) Anne Joutel et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2010) Z. Wang et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

An Unusual Case of Elderly-Onset Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) With Multiple Cerebrovascular Risk Factors

(2010) Mitsunori Watanabe et al.   Journal of Stroke & Cerebrovascular Diseases

A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population

(2010) M. Mendioroz et al.   NEUROLOGY

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

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

(2009) Marie Monet-Leprêtre et al.   BRAIN

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male

(2009) JAKOB GRANILD-JENSEN et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

(2009) Annemieke Aartsma-Rus et al.   HUMAN MUTATION

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

(2009) M. K. Liem 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

Selective Use of ADAM10 and ADAM17 in Activation of Notch1 Signaling

(2009) E. C. Bozkulak et al.   MOLECULAR AND CELLULAR BIOLOGY

Apathy: A major symptom in CADASIL

(2009) S. Reyes et al.   NEUROLOGY

Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease

(2009) Kenju Hara 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

Notch Signaling Regulates Platelet-Derived Growth Factor Receptor-β Expression in Vascular Smooth Muscle Cells

(2008) Shaobo Jin et al.   CIRCULATION RESEARCH

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

(2008) Toshiki Mizuno et al.   INTERNAL MEDICINE

Donepezil in patients with subcortical vascular cognitive impairment: a randomised double-blind trial in CADASIL

(2008) Martin Dichgans et al.   LANCET NEUROLOGY

Cognition in CADASIL

(2008) M. Dichgans   STROKE

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

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