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

Fumiaki Kamada, Yoko Aoki, Ayumi Narisawa, +16

Journal of Human Genetics

Genetic DisorderGeneticsGenetic EpidemiologyPathologyComplex Disease +4

Increased expression of serum matrix metalloproteinase-9 in patients with moyamoya disease

Miki Fujimura, Mika Watanabe, Ayumi Narisawa, +2

Surgical Neurology

Moyamoya DiseaseSerum Matrix Metalloproteinase-9PathologySclerodermaMedicine

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

Ayumi Narisawa, Shoko Komatsuzaki, Atsuo Kikuchi, +19

Human Molecular Genetics

Molecular NeuroscienceDevelopmental BiologyMolecular PhysiologyGenetic DisorderMendelian Disorder +12

Genomic deletion within <i>GLDC</i> is a major cause of non-ketotic hyperglycinaemia

Jun Kanno, Tim Hutchin, Fumiaki Kamada, +4

Journal of Medical Genetics

A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype–phenotype correlation

Fumiaki Kamada, Shigeo Kure, Takayuki Kudo, +13

Journal of Human Genetics

Genetic DisorderGeneticsGenotype–phenotype CorrelationMolecular GeneticsDisease Gene Identification +5

A study of prognostic factors in 45 cases of atypical meningioma

Toshiki Endo, Ayumi Narisawa, Hosam Shata Mohamed Ali, +8

Acta Neurochirurgica

Prognostic FactorsMeningiomaAtypical Meningioma

Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis

Junko Kanno, Shigeo Kure, Ayumi Narisawa, +13

Molecular Genetics and Metabolism

Aldh7a1 Mutational AnalysisMolecular NeurosciencePyridoxine Dependent SeizuresGeneticsNeuropharmacology +5

Efficacy of the revascularization surgery for adult-onset moyamoya disease with the progression of cerebrovascular lesions

Ayumi Narisawa, Miki Fujimura, Teiji Tominaga

Clinical Neurology and Neurosurgery

Interventional NeuroradiologyMedicineRevascularization SurgeryVascular MalformationVascular Surgery +7

Direct Correlation Between Ischemic Injury and Extracellular Glycine Concentration in Mice With Genetically Altered Activities of the Glycine Cleavage Multienzyme System

Masaya Oda, Shigeo Kure, Taku Sugawara, +10

Stroke

Takotsubo Cardiomyopathy Induced by Dobutamine Infusion During Hypertensive Therapy for Symptomatic Vasospasm After Subarachnoid Hemorrhage -Case Report-

Ryuta Saito, T. Takahashi, Nobuo Noshita, +4

Neurologia medico-chirurgica

HypertensionHeart FailureTakotsubo Cardiomyopathy InducedDobutamine InfusionNeurovascular Disease +18