Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Hitoshi Osaka

Showing results (141-150 of 218) with videos related to

Pageof 22
Sort By:
Human Mutation|May 28, 2010
Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndromeTojo Nakayama, Ikuo Ogiwara, Koichi Ito, et al.
Epilepsia|June 20, 2012
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasiaHirotomo Saitsu, Mitsuhiro Kato, Hitoshi Osaka, et al.
Brain & Development|March 14, 2012
Two Japanese patients with Leigh syndrome caused by novel SURF1 mutationsJunpei Tanigawa, Kaori Kaneko, Masakazu Honda, et al.
Molecular Genetics and Metabolism Reports|January 26, 2017
Gene therapy for a mouse model of glucose transporter-1 deficiency syndromeSachie Nakamura, Hitoshi Osaka, Shin-Ichi Muramatsu, et al.
Clinical & Developmental Immunology|December 13, 2006
Vaccination and infection as causative factors in Japanese patients with Rasmussen syndrome: molecular mimicry and HLA class IYukitoshi Takahashi, Kazumi Matsuda, Yuko Kubota, et al.
Molecular Genetics & Genomic Medicine|June 25, 2019
A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelinationSachiko Miyamoto, Mitsuko Nakashima, Tsukasa Ohashi, et al.
Neuromuscular Disorders : NMD|June 3, 2015
A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular spaceSatoshi Iwata, Mikako Ito, Tomohiko Nakata, et al.
Human Gene Therapy|March 26, 2026
An Analysis of Biomarkers for the Evaluation of Gene Therapy in Niemann-Pick Disease Type C1 MiceChika Watanabe, Masamitsu Maekawa, Eriko Jimbo, et al.
Biomolecules|January 25, 2025
NADH Reductive Stress and Its Correlation with Disease Severity in Leigh Syndrome: A Pilot Study Using Patient Fibroblasts and a Mouse ModelTamaki Ishima, Natsuka Kimura, Mizuki Kobayashi, et al.
American Journal of Human Genetics|September 26, 2002
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and femalesKen Inoue, Hitoshi Osaka, Virginia C Thurston, et al.
Pageof 22

Showing results (141-150 of 218) with videos related to

Sort By:
Pageof 22
Human Mutation|May 28, 2010
Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndromeTojo Nakayama, Ikuo Ogiwara, Koichi Ito, et al.
Epilepsia|June 20, 2012
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasiaHirotomo Saitsu, Mitsuhiro Kato, Hitoshi Osaka, et al.
Brain & Development|March 14, 2012
Two Japanese patients with Leigh syndrome caused by novel SURF1 mutationsJunpei Tanigawa, Kaori Kaneko, Masakazu Honda, et al.
Molecular Genetics and Metabolism Reports|January 26, 2017
Gene therapy for a mouse model of glucose transporter-1 deficiency syndromeSachie Nakamura, Hitoshi Osaka, Shin-Ichi Muramatsu, et al.
Clinical & Developmental Immunology|December 13, 2006
Vaccination and infection as causative factors in Japanese patients with Rasmussen syndrome: molecular mimicry and HLA class IYukitoshi Takahashi, Kazumi Matsuda, Yuko Kubota, et al.
Molecular Genetics & Genomic Medicine|June 25, 2019
A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelinationSachiko Miyamoto, Mitsuko Nakashima, Tsukasa Ohashi, et al.
Neuromuscular Disorders : NMD|June 3, 2015
A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular spaceSatoshi Iwata, Mikako Ito, Tomohiko Nakata, et al.
Human Gene Therapy|March 26, 2026
An Analysis of Biomarkers for the Evaluation of Gene Therapy in Niemann-Pick Disease Type C1 MiceChika Watanabe, Masamitsu Maekawa, Eriko Jimbo, et al.
Biomolecules|January 25, 2025
NADH Reductive Stress and Its Correlation with Disease Severity in Leigh Syndrome: A Pilot Study Using Patient Fibroblasts and a Mouse ModelTamaki Ishima, Natsuka Kimura, Mizuki Kobayashi, et al.
American Journal of Human Genetics|September 26, 2002
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and femalesKen Inoue, Hitoshi Osaka, Virginia C Thurston, et al.
Pageof 22