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Ophthalmic Genetics|May 3, 2018
CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese familyDaiki Kubota, Kiyoko Gocho, Sachiko Kikuchi, et al.
Molecular Vision|June 23, 2020
Tyrosine triple mutated AAV2-BDNF gene therapy in an inner retinal injury model induced by intravitreal injection of N-methyl-D-aspartate (NMDA)Asaka Lee Shiozawa, Tsutomu Igarashi, Maika Kobayashi, et al.
Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi|February 4, 2020
Novel GUCY2D Variant (E843Q) at Mutation Hotspot Associated with Macular Dystrophy in a Japanese PatientYukito Takeda, Daiki Kubota, Noriko Oishi, et al.
The Journal of Cell Biology|September 11, 2002
Alpha1-syntrophin-deficient skeletal muscle exhibits hypertrophy and aberrant formation of neuromuscular junctions during regenerationYukio Hosaka, Toshifumi Yokota, Yuko Miyagoe-Suzuki, et al.
Ophthalmic Genetics|August 21, 2020
High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutationDaiki Kubota, Kaori Matsumoto, Mika Hayashi, et al.
Scientific Reports|September 28, 2020
Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese familiesTakaaki Hayashi, Shuhei Kameya, Kei Mizobuchi, et al.
Ophthalmic Genetics|February 5, 2021
Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutationNoriko Oishi, Daiki Kubota, Kenji Nakamoto, et al.
Frontiers in Medicine|October 3, 2024
A novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in JapanNatsuki Higa, Takaaki Hayashi, Kei Mizobuchi, et al.
Journal of Ophthalmology|October 3, 2014
High-Resolution Imaging of Patients with Bietti Crystalline Dystrophy with CYP4V2 MutationKiyoko Gocho, Shuhei Kameya, Keiichiro Akeo, et al.
Ophthalmic Surgery, Lasers & Imaging Retina|December 16, 2016
High-Resolution Adaptive Optics Retinal Image Analysis at Early Stage Central Areolar Choroidal Dystrophy With PRPH2 MutationKiyoko Gocho, Keiichiro Akeo, Naoko Itoh, et al.
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