Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

(2010) Fumiaki Kamada et al.   JOURNAL OF HUMAN GENETICS

Delineation of Diverse Macrophage Activation Programs in Response to Intracellular Parasites and Cytokines

(2010) Shuyi Zhang et al.   PLoS Neglected Tropical Diseases

Predictors of Cerebral Arteriopathy in Children With Arterial Ischemic Stroke

(2009) Catherine Amlie-Lefond et al.   CIRCULATION

Epidemiological and clinical features of Moyamoya disease in Nanjing, China

(2009) Wei Miao et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

A rare Asian founder polymorphism of Raptor may explain the high prevalence of Moyamoya disease among East Asians and its low prevalence among Caucasians

(2009) Wanyang Liu et al.   Environmental Health and Preventive Medicine

Synergistic heterozygosity for TGFβ1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension

(2008) John A Phillips et al.   GENETICS IN MEDICINE

Moyamoya disease: current concepts and future perspectives

(2008) Satoshi Kuroda et al.   LANCET NEUROLOGY

Gp78 Cooperates with RMA1 in Endoplasmic Reticulum-associated Degradation of CFTRΔF508

(2008) Daisuke Morito et al.   MOLECULAR BIOLOGY OF THE CELL

Autosomal dominant moyamoya disease maps to chromosome 17q25.3

(2008) Y. Mineharu et al.   NEUROLOGY