Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014

CADASIL and CARASIL

(2014) Saara Tikka et al.   BRAIN PATHOLOGY

A Novel Cysteine-Sparing NOTCH3 Mutation in a Chinese Family with CADASIL

(2014) Wei Ge et al.   PLoS One

The International Classification of Headache Disorders, 3rd edition (beta version)

(2013)   CEPHALALGIA

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

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 Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale

(2012) Francesca Pescini et al.   STROKE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

(2009) Saara Tikka et al.   BRAIN

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

Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients

(2009) L. Pantoni et al.   NEUROLOGY

Detection of granular osmiophilic material of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy by light microscopy in frozen sections

(2009)   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Case 12-2009

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

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

(2008) Toshiki Mizuno et al.   INTERNAL MEDICINE

CYSTEINE-SPARING NOTCH3 MUTATIONS: CADASIL OR CADASIL VARIANTS?

(2008) R. Scheid et al.   NEUROLOGY