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

Akira Ohtake

Showing results (51-60 of 162) with videos related to

Pageof 17
Sort By:
European Journal of Pediatrics|June 16, 2015
Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature reviewTakeshi Sato, Koji Muroya, Junko Hanakawa, et al.
Journal of Human Genetics|May 29, 2015
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenitaShinobu Fukumura, Chihiro Ohba, Toshihide Watanabe, et al.
Molecular Genetics and Metabolism|July 9, 2026
Non-invasive urinary heteroplasmy screening outperforms blood testing for certain mitochondrial DNA variants in mitochondrial disease patientsAtsuko Okazaki, Yukiko Yatsuka, Takuya Fushimi, et al.
Molecular Genetics and Metabolism Reports|December 9, 2024
Efficacy and safety of switching therapy from chenodeoxycholic acid to cholic acid in Japanese patients with bile acid synthesis disordersMitsuyoshi Suzuki, Hajime Takei, Hiromi Suzuki, et al.
Brain & Development|October 12, 2013
Leigh syndrome with Fukuyama congenital muscular dystrophy: a case reportHidehito Kondo, Koichi Tanda, Chihiro Tabata, et al.
Biochimica Et Biophysica Acta|July 21, 2009
Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiencyHirofumi Komaki, Yutaka Nishigaki, Noriyuki Fuku, et al.
Scientific Reports|May 28, 2021
A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndromeYoshihito Kishita, Kaori Ishikawa, Kazuto Nakada, et al.
Brain & Development|November 3, 2020
Valine-restricted diet for patients with ECHS1 deficiency: Divergent clinical outcomes in two Japanese siblingsIkuko Sato-Shirai, Erika Ogawa, Atsuko Arisaka, et al.
Human Mutation|July 20, 2017
HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencingAtsuko Imai-Okazaki, Masakazu Kohda, Kaori Kobayashi, et al.
Journal of Human Genetics|March 3, 2017
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndromeSatoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, et al.
Pageof 17

Showing results (51-60 of 162) with videos related to

Sort By:
Pageof 17
European Journal of Pediatrics|June 16, 2015
Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature reviewTakeshi Sato, Koji Muroya, Junko Hanakawa, et al.
Journal of Human Genetics|May 29, 2015
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenitaShinobu Fukumura, Chihiro Ohba, Toshihide Watanabe, et al.
Molecular Genetics and Metabolism|July 9, 2026
Non-invasive urinary heteroplasmy screening outperforms blood testing for certain mitochondrial DNA variants in mitochondrial disease patientsAtsuko Okazaki, Yukiko Yatsuka, Takuya Fushimi, et al.
Molecular Genetics and Metabolism Reports|December 9, 2024
Efficacy and safety of switching therapy from chenodeoxycholic acid to cholic acid in Japanese patients with bile acid synthesis disordersMitsuyoshi Suzuki, Hajime Takei, Hiromi Suzuki, et al.
Brain & Development|October 12, 2013
Leigh syndrome with Fukuyama congenital muscular dystrophy: a case reportHidehito Kondo, Koichi Tanda, Chihiro Tabata, et al.
Biochimica Et Biophysica Acta|July 21, 2009
Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiencyHirofumi Komaki, Yutaka Nishigaki, Noriyuki Fuku, et al.
Scientific Reports|May 28, 2021
A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndromeYoshihito Kishita, Kaori Ishikawa, Kazuto Nakada, et al.
Brain & Development|November 3, 2020
Valine-restricted diet for patients with ECHS1 deficiency: Divergent clinical outcomes in two Japanese siblingsIkuko Sato-Shirai, Erika Ogawa, Atsuko Arisaka, et al.
Human Mutation|July 20, 2017
HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencingAtsuko Imai-Okazaki, Masakazu Kohda, Kaori Kobayashi, et al.
Journal of Human Genetics|March 3, 2017
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndromeSatoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, et al.
Pageof 17