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Hitoshi Osaka

Showing results (161-170 of 218) with videos related to

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Molecular Genetics and Metabolism|April 5, 2012
Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafnessHitoshi Osaka, Atsushi Takagi, Yu Tsuyusaki, et al.
Brain : a Journal of Neurology|January 13, 2005
The slow Wallerian degeneration gene, WldS, inhibits axonal spheroid pathology in gracile axonal dystrophy miceWeiqian Mi, Bogdan Beirowski, Thomas H Gillingwater, et al.
Scientific Reports|February 27, 2024
Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptorsAkihiko Miyauchi, Chika Watanabe, Naoya Yamada, et al.
Epilepsy Research|May 18, 2007
Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variationHitoshi Osaka, Ikuo Ogiwara, Emi Mazaki, et al.
Molecular Genetics and Metabolism Reports|September 15, 2021
Leigh syndrome-like MRI changes in a patient with biallelic <i>HPDL</i> variants treated with ketogenic dietYurika Numata-Uematsu, Mitsugu Uematsu, Toshiyuki Yamamoto, et al.
Neurology|April 16, 2017
Phenotype of GABA-transaminase deficiencyMary Kay Koenig, Ryan Hodgeman, James J Riviello, et al.
International Journal of Hematology|March 24, 2026
Acute megakaryoblastic leukemia with RBM15::MKL1 fusion presenting as neonatal acute liver failure: rescued by living-donor liver transplantationHiroki Yoshinari, Yuta Kawahara, Hitomi Niijima, et al.
Journal of Human Genetics|September 11, 2015
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbanceChihiro Ohba, Kazuhiro Haginoya, Hitoshi Osaka, et al.
The Journal of Gene Medicine|October 24, 2022
Early distribution of<sup>18</sup> F-labeled AAV9 vectors in the cerebrospinal fluid after intracerebroventricular or intracisternal magna infusion in non-human primatesShinichi Kumagai, Takeshi Nakajima, Kuniko Shimazaki, et al.
Molecular Genetics and Metabolism Reports|January 12, 2023
Total and reduced/oxidized forms of coenzyme Q<sub>10</sub> in fibroblasts of patients with mitochondrial diseaseChika Watanabe, Hitoshi Osaka, Miyuki Watanabe, et al.
Pageof 22

Showing results (161-170 of 218) with videos related to

Sort By:
Pageof 22
Molecular Genetics and Metabolism|April 5, 2012
Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafnessHitoshi Osaka, Atsushi Takagi, Yu Tsuyusaki, et al.
Brain : a Journal of Neurology|January 13, 2005
The slow Wallerian degeneration gene, WldS, inhibits axonal spheroid pathology in gracile axonal dystrophy miceWeiqian Mi, Bogdan Beirowski, Thomas H Gillingwater, et al.
Scientific Reports|February 27, 2024
Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptorsAkihiko Miyauchi, Chika Watanabe, Naoya Yamada, et al.
Epilepsy Research|May 18, 2007
Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variationHitoshi Osaka, Ikuo Ogiwara, Emi Mazaki, et al.
Molecular Genetics and Metabolism Reports|September 15, 2021
Leigh syndrome-like MRI changes in a patient with biallelic <i>HPDL</i> variants treated with ketogenic dietYurika Numata-Uematsu, Mitsugu Uematsu, Toshiyuki Yamamoto, et al.
Neurology|April 16, 2017
Phenotype of GABA-transaminase deficiencyMary Kay Koenig, Ryan Hodgeman, James J Riviello, et al.
International Journal of Hematology|March 24, 2026
Acute megakaryoblastic leukemia with RBM15::MKL1 fusion presenting as neonatal acute liver failure: rescued by living-donor liver transplantationHiroki Yoshinari, Yuta Kawahara, Hitomi Niijima, et al.
Journal of Human Genetics|September 11, 2015
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbanceChihiro Ohba, Kazuhiro Haginoya, Hitoshi Osaka, et al.
The Journal of Gene Medicine|October 24, 2022
Early distribution of<sup>18</sup> F-labeled AAV9 vectors in the cerebrospinal fluid after intracerebroventricular or intracisternal magna infusion in non-human primatesShinichi Kumagai, Takeshi Nakajima, Kuniko Shimazaki, et al.
Molecular Genetics and Metabolism Reports|January 12, 2023
Total and reduced/oxidized forms of coenzyme Q<sub>10</sub> in fibroblasts of patients with mitochondrial diseaseChika Watanabe, Hitoshi Osaka, Miyuki Watanabe, et al.
Pageof 22