Ayumi Narisawa

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

Fumiaki Kamada, Yoko Aoki, Ayumi Narisawa et al. · Journal of Human Genetics · 2010 · 732 citations · Full text

Genetic Disorder, Genetics, Genetic Epidemiology +6

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

Miki Fujimura, Mika Watanabe, Ayumi Narisawa et al. · Surgical Neurology · 2009 · 122 citations

Moyamoya Disease, Serum Matrix Metalloproteinase-9, Pathology +2

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

Ayumi Narisawa, Shoko Komatsuzaki, Atsuo Kikuchi et al. · Human Molecular Genetics · 2011 · 117 citations · Full text

Molecular Neuroscience, Developmental Biology, Molecular Physiology +14

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

Jun Kanno, Tim Hutchin, Fumiaki Kamada et al. · Journal of Medical Genetics · 2007 · 65 citations · Full text

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 et al. · Journal of Human Genetics · 2006 · 54 citations · Full text

Genetic Disorder, Genetics, Genotype–phenotype Correlation +7