A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations

R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations

(2012) J. Richer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Surgical revascularisation for childhood moyamoya

(2012) J. Ng et al.   CHILDS NERVOUS SYSTEM

Prevalence of congenital heart disease assessed by echocardiography in 2067 consecutive newborns

(2011) Takamichi Ishikawa et al.   ACTA PAEDIATRICA

Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2)

(2011) E. Disabella et al.   HEART

Magnetic Resonance Imaging in Cerebral Small Vessel Disease and its Use as a Surrogate Disease Marker

(2011) Bhavini Patel et al.   International Journal of Stroke

Paediatric stroke: genetic insights into disease mechanisms and treatment targets

(2011) Pinki Munot et al.   LANCET NEUROLOGY

Analysis of ACTA2 in European Moyamoya disease patients

(2010) Constantin Roder et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: Evidence for a hyperplastic vasculomyopathy

(2010) Dianna M Milewicz et al.   GENETICS IN MEDICINE

Distribution of Internal Elastic Lamina and External Elastic Lamina in the Internal Carotid Artery: Possible Relationship With Atherosclerosis

(2010) Toru MASUOKA et al.   NEUROLOGIA MEDICO-CHIRURGICA

Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

(2009) Dong-Chuan Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Predictors of Cerebral Arteriopathy in Children With Arterial Ischemic Stroke

(2009) Catherine Amlie-Lefond et al.   CIRCULATION

ACTA2 is not a major disease-causing gene for moyamoya disease

(2009) Keiko Shimojima et al.   JOURNAL OF HUMAN GENETICS

The Cost of Pediatric Stroke Acute Care in the United States

(2009) Elizabeth Perkins et al.   STROKE

Management of Stroke in Infants and Children

(2008) E. Steve Roach et al.   STROKE