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Asako Horinishi

Observed name: A. Horinishi
OpenAlex ID: A5075280719
Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey
2006 · Yoriko Endo, Asako Horinishi, et al. · Journal of Human Genetics · 50
A novel complex deletion–insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency
2007 · Minoru Okubo, Asako Horinishi, et al. · Molecular Genetics and Metabolism · 46
Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene
2002 · Minoru Okubo, Asako Horinishi, et al. · Human Mutation · 40
No evidence of accelerated atherosclerosis in a 66-yr-old chylomicronemia patient homozygous for the nonsense mutation (Tyr61→Stop) in the lipoprotein lipase gene
2001 · Tetsu Ebara, Minoru Okubo, et al. · Atherosclerosis · 38
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan
2000 · M. Okubo, A. Horinishi, et al. · Human Genetics · 32
A novel point mutation in an acceptor splice site of intron 32 (IVS32 A -12 →G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb
1998 · M. Okubo, Asako Horinishi, et al. · Human Genetics · 27
Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III
2002 · A. Horinishi, M. Okubo, et al. · Journal of Human Genetics · 21
Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient
1999 · Minoru Okubo, Fumio Kanda, et al. · Human Mutation · 20
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Molecular characterization of Egyptian patients with glycogen storage disease type IIIa
2005 · Yoriko Endo, Ekram Fateen, et al. · Journal of Human Genetics · 17
Compound heterozygous patient with glycogen storage disease type III: Identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin
2000 · Minoru Okubo, Asako Horinishi, et al. · American Journal of Medical Genetics · 11
Detection of a new compound heterozygote (del G916/G1401A) for lipoprotein lipase deficiency and a comparative haplotype analysis of the mutant lipoprotein lipase gene from Japanese patients
1999 · Minoru Okubo, Shigeaki Inoue, et al. · Atherosclerosis · 8
1176C Polymorphism in Japanese patients with glycogen storage disease type 1a
1999 · M. Okubo, Asako Horinishi, et al. · Human Genetics · 6
Novel intronic polymorphisms (IVS6-73A/G and IVS21+124A/G) in the glycogen-debranching enzyme (AGL) gene
2000 · Asako Horinishi, Toshio Murase, et al. · Human Mutation · 3
Glycogen storage disease III subtypes and muscle weakness during childhood
1999 · M. Okubo, A. Horinishi, et al. · Human Genetics
Works count: 14
Citation count: 319
H-index: 10
I10-index: 10
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