Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations

NOTCH3 SIGNALING AND AGGREGATION AS TARGETS FOR THE TREATMENT OF CADASIL AND OTHER NOTCH3-ASSOCIATED SMALL VESSEL DISEASE

(2021) Dorothee Schoemaker et al.   AMERICAN JOURNAL OF PATHOLOGY

Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy

(2021) Hai-Lin Dong et al.   BRAIN

Genotypic and Phenotypic Characteristics of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy from China

(2021) Chen Zhang et al.   EUROPEAN NEUROLOGY

NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients

(2021) Yacen Hu et al.   Frontiers in Genetics

CADASIL in Greece: Mutational spectrum and clinical characteristics based on a systematic review and pooled analysis of published cases

(2021) George P. Paraskevas et al.   EUROPEAN JOURNAL OF NEUROLOGY

Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study

(2021) Ji-You Min et al.   NEUROGENETICS

Clinical and imaging features of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and cysteine-sparing NOTCH3 mutations

(2020) Hyunjin Kim et al.   PLoS One

New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies

(2019) Juan‐Juan Xie et al.   CNS Neuroscience & Therapeutics

Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing

(2018) Bin Jiang et al.   NEUROBIOLOGY OF AGING

Cysteine-sparing variations of NOTCH3 found on genetic test for CADASIL

(2017) I. Mizuta et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis

(2016) Yi Dong et al.   Theranostics

Imaging Characteristics of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy (CADASIL)

(2015) Dragan Stojanov et al.   Bosnian Journal of Basic Medical Sciences

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

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

(2015) Akihiko Ueda et al.   JOURNAL OF NEUROLOGY

Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles

(2015) Yi-Chu Liao et al.   PLoS One

CADASIL and CARASIL

(2014) Saara Tikka et al.   BRAIN PATHOLOGY

CADASIL

(2009) Hugues Chabriat et al.   LANCET NEUROLOGY

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

(2008) Toshiki Mizuno et al.   INTERNAL MEDICINE