Asako Horinishi

Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey

Yoriko Endo, Asako Horinishi, Matthias Vorgerd et al. · Journal of Human Genetics · 2006 · 49 citations · Full text

Agl Gene, Allelic Variant, Genetic Disorder +10

A novel complex deletion–insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency

Minoru Okubo, Asako Horinishi, Mieko Saito et al. · Molecular Genetics and Metabolism · 2007 · 43 citations

Alu Repetitive Elements, Biochemistry, Genetic Disorder +9

Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene

Minoru Okubo, Asako Horinishi, Dong-Ho Kim et al. · Human Mutation · 2002 · 41 citations

Human Lrp5 Gene, Metabolic Syndrome, Lipid Disorder +14

No evidence of accelerated atherosclerosis in a 66-yr-old chylomicronemia patient homozygous for the nonsense mutation (Tyr61→Stop) in the lipoprotein lipase gene

Tetsu Ebara, Minoru Okubo, Asako Horinishi et al. · Atherosclerosis · 2001 · 38 citations

Metabolic Syndrome, Vascular Disease, Lipoprotein Lipase Gene +12

Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan

Minoru Okubo, Asako Horinishi, Megumi Takeuchi et al. · Human Genetics · 2000 · 30 citations

Glycogen-debranching Enzyme Gene, Mendelian Disorder, Genetic Disorder +10