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 (191-200 of 218) with videos related to

Pageof 22
Sort By:
Epilepsia|October 5, 2010
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst patternHirotomo Saitsu, Mitsuhiro Kato, Ippei Okada, et al.
Epilepsia|July 4, 2015
De novo KCNT1 mutations in early-onset epileptic encephalopathyChihiro Ohba, Mitsuhiro Kato, Nobuya Takahashi, et al.
Molecular Genetics and Metabolism Reports|October 20, 2021
Valine metabolites analysis in ECHS1 deficiencyMari Kuwajima, Karin Kojima, Hitoshi Osaka, et al.
Brain & Development|January 18, 2016
The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patientsKaoru Sumida, Ken Inoue, Jun-Ichi Takanashi, et al.
The Journal of Allergy and Clinical Immunology. Global|July 21, 2025
B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiencySanami Takada, Tsubasa Okano, Kay Tanita, et al.
Scientific Reports|May 17, 2022
CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainateToshimitsu Suzuki, Tetsuya Tatsukawa, Genki Sudo, et al.
American Journal of Human Genetics|September 3, 2013
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathyKazuyuki Nakamura, Hirofumi Kodera, Tenpei Akita, et al.
American Journal of Human Genetics|May 25, 2010
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delayHirotomo Saitsu, Jun Tohyama, Tatsuro Kumada, et al.
Cell Metabolism|January 9, 2025
Formation of I<sub>2</sub>+III<sub>2</sub> supercomplex rescues respiratory chain defectsChao Liang, Abhilash Padavannil, Shan Zhang, et al.
Rheumatology (Oxford, England)|December 5, 2013
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort studyJunya Abe, Kazuyuki Nakamura, Ryuta Nishikomori, et al.
Pageof 22

Showing results (191-200 of 218) with videos related to

Sort By:
Pageof 22
Epilepsia|October 5, 2010
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst patternHirotomo Saitsu, Mitsuhiro Kato, Ippei Okada, et al.
Epilepsia|July 4, 2015
De novo KCNT1 mutations in early-onset epileptic encephalopathyChihiro Ohba, Mitsuhiro Kato, Nobuya Takahashi, et al.
Molecular Genetics and Metabolism Reports|October 20, 2021
Valine metabolites analysis in ECHS1 deficiencyMari Kuwajima, Karin Kojima, Hitoshi Osaka, et al.
Brain & Development|January 18, 2016
The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patientsKaoru Sumida, Ken Inoue, Jun-Ichi Takanashi, et al.
The Journal of Allergy and Clinical Immunology. Global|July 21, 2025
B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiencySanami Takada, Tsubasa Okano, Kay Tanita, et al.
Scientific Reports|May 17, 2022
CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainateToshimitsu Suzuki, Tetsuya Tatsukawa, Genki Sudo, et al.
American Journal of Human Genetics|September 3, 2013
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathyKazuyuki Nakamura, Hirofumi Kodera, Tenpei Akita, et al.
American Journal of Human Genetics|May 25, 2010
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delayHirotomo Saitsu, Jun Tohyama, Tatsuro Kumada, et al.
Cell Metabolism|January 9, 2025
Formation of I<sub>2</sub>+III<sub>2</sub> supercomplex rescues respiratory chain defectsChao Liang, Abhilash Padavannil, Shan Zhang, et al.
Rheumatology (Oxford, England)|December 5, 2013
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort studyJunya Abe, Kazuyuki Nakamura, Ryuta Nishikomori, et al.
Pageof 22