Monogenic cerebral small‐vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology

Fabry’s disease and stroke: Effectiveness of enzyme replacement therapy (ERT) in stroke prevention, a review with meta-analysis

(2019) Sen Sheng et al.   JOURNAL OF CLINICAL NEUROSCIENCE

The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant

(2018) Julie W. Rutten et al.   GENETICS IN MEDICINE

Clinical correlates of longitudinal MRI changes in CADASIL

(2018) Yifeng Ling et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Fabry Disease: prevalence of affected males and heterozygotes with pathogenicGLAmutations identified by screening renal, cardiac and stroke clinics, 1995–2017

(2018) Dana Doheny et al.   JOURNAL OF MEDICAL GENETICS

Fabry disease revisited: Management and treatment recommendations for adult patients

(2018) Alberto Ortiz et al.   MOLECULAR GENETICS AND METABOLISM

Development and clinical consequences of white matter lesions in Fabry disease: a systematic review

(2018) Simon Körver et al.   MOLECULAR GENETICS AND METABOLISM

Neurologic phenotypes associated with COL4A1/2 mutations

(2018) Sara Zagaglia et al.   NEUROLOGY

Tumefactive lesions in retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations (RVCL-S): a role for neuroinflammation?

(2017) Todd A. Hardy et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies

(2017) Regina El Dib et al.   PLoS One

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

(2016) Anine H. Stam et al.   BRAIN

Cathepsin A–related arteriopathy with strokes and leukoencephalopathy (CARASAL)

(2016) Marianna Bugiani et al.   NEUROLOGY

Distinct molecular mechanisms ofHTRA1mutants in manifesting heterozygotes with CARASIL

(2016) Hiroaki Nozaki et al.   NEUROLOGY

CADASIL: Migraine, Encephalopathy, Stroke and Their Inter-Relationships

(2016) Rhea Yan Ying Tan et al.   PLoS One

HeterozygousHTRA1mutations are associated with autosomal dominant cerebral small vessel disease

(2015) Edgard Verdura et al.   BRAIN

Characteristic features and progression of abnormalities on MRI for CARASIL

(2015) Hiroaki Nozaki et al.   NEUROLOGY

Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke

(2015) Laura L. Kilarski et al.   PLoS One

Two novel HTRA1 mutations in a European CARASIL patient

(2014) S. Bianchi et al.   NEUROLOGY

Features of Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

(2014) Hiroaki Nozaki et al.   STROKE

A novel hereditary extensive vascular leukoencephalopathy mapping to chromosome 20q13

(2012) D. Herve et al.   NEUROLOGY

The minimum prevalence of CADASIL in northeast England

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

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

(2011) Toshio Fukutake   Journal of Stroke & Cerebrovascular Diseases

Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease

(2010) Katayoun Vahedi et al.   CURRENT OPINION IN NEUROLOGY

MRI Features of Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy (PADMAL)

(2010) Xiao-Qi Ding et al.   JOURNAL OF NEUROIMAGING

Clinical Spectrum of CADASIL and the Effect of Cardiovascular Risk Factors on Phenotype

(2010) Poneh Adib-Samii et al.   STROKE

CADASIL

(2009) Hugues Chabriat et al.   LANCET NEUROLOGY

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

(2009) Kenju Hara et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2008) Martin Dichgans et al.   LANCET NEUROLOGY