High Diagnostic Utility Incorporating a Targeted Neurodegeneration Gene Panel With MRI Brain Diagnostic Algorithms in Patients With Young-Onset Cognitive Impairment With Leukodystrophy

Cerebral Small Vessel Disease Related to a Heterozygous Nonsense Mutation in HTRA1

(2020) Kentaro Ohta et al.   INTERNAL MEDICINE

The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder

(2019) Matthew Benger et al.   Frontiers in Neurology

Diagnosis, prognosis, and treatment of leukodystrophies

(2019) Marjo S van der Knaap et al.   LANCET NEUROLOGY

How common are single gene mutations as a cause for lacunar stroke?

(2019) Rhea Y.Y. Tan et al.   NEUROLOGY

Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel

(2018) M. Kunii et al.   CLINICAL GENETICS

Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients

(2018) Serena Nannucci et al.   PLoS One

Characterization of HeterozygousHTRA1Mutations in Taiwanese Patients With Cerebral Small Vessel Disease

(2018) Yi-Chung Lee et al.   STROKE

CSF1R-related leukoencephalopathy

(2018) Takuya Konno et al.   NEUROLOGY

Genotype–phenotype correlations of cysteine replacement in CADASIL

(2017) Takashi Matsushima et al.   NEUROBIOLOGY OF AGING

White matter hyperintensities are a core feature of Alzheimer's disease: Evidence from the dominantly inherited Alzheimer network

(2016) Seonjoo Lee et al.   ANNALS OF NEUROLOGY

Whole exome sequencing in patients with white matter abnormalities

(2016) Adeline Vanderver et al.   ANNALS OF NEUROLOGY

Distinct molecular mechanisms ofHTRA1mutants in manifesting heterozygotes with CARASIL

(2016) Hiroaki Nozaki et al.   NEUROLOGY

The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies

(2016) Xiaole Wang et al.   Scientific Reports

HeterozygousHTRA1mutations are associated with autosomal dominant cerebral small vessel disease

(2015) Edgard Verdura et al.   BRAIN

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

SIFT missense predictions for genomes

(2015) Robert Vaser et al.   Nature Protocols

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

(2015) Yi-Chu Liao et al.   PLoS One

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

(2014) Xavier Ayrignac et al.   BRAIN

Neuroimaging standards for research into small vessel disease and its contribution to ageing and neurodegeneration

(2013) Joanna M Wardlaw et al.   LANCET NEUROLOGY

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

Parkinsonism is a Late, Not Rare, Feature of CADASIL

(2013) Michele Ragno et al.   STROKE

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

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

CADASIL

(2009) Hugues Chabriat et al.   LANCET NEUROLOGY