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Hitoshi Osaka

Showing results (181-190 of 218) with videos related to

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American Journal of Medical Genetics. Part A|June 7, 2016
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndromeNoriko Miyake, Ghada Abdel-Salam, Takanori Yamagata, et al.
Neurochemistry International|September 13, 2006
Dopaminergic neuronal loss in transgenic mice expressing the Parkinson's disease-associated UCH-L1 I93M mutantRieko Setsuie, Yu-Lai Wang, Hideki Mochizuki, et al.
Neurogenetics|October 5, 2013
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhoodChihiro Ohba, Hitoshi Osaka, Mizue Iai, et al.
Nature Genetics|May 13, 2008
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathyHirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi, et al.
Neurology|April 8, 2014
PIGA mutations cause early-onset epileptic encephalopathies and distinctive featuresMitsuhiro Kato, Hirotomo Saitsu, Yoshiko Murakami, et al.
Journal of Medical Genetics|April 13, 2023
Strategic validation of variants of uncertain significance in <i>ECHS1</i> genetic testingYoshihito Kishita, Ayumu Sugiura, Takanori Onuki, et al.
Human Molecular Genetics|August 13, 2003
Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuronHitoshi Osaka, Yu-Lai Wang, Koji Takada, et al.
Human Mutation|October 12, 2013
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathyHirofumi Kodera, Kazuyuki Nakamura, Hitoshi Osaka, et al.
Brain & Development|December 30, 2025
Ferroptosis susceptibility in primary coenzyme Q<sub>10</sub> deficiency: Cellular insights from patient fibroblasts and clinical course of six individualsChika Watanabe, Akihiko Miyauchi, Shiho Aoki, et al.
European Journal of Human Genetics : EJHG|May 14, 2015
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delayHirotomo Saitsu, Ryoko Fukai, Bruria Ben-Zeev, et al.
Pageof 22

Showing results (181-190 of 218) with videos related to

Sort By:
Pageof 22
American Journal of Medical Genetics. Part A|June 7, 2016
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndromeNoriko Miyake, Ghada Abdel-Salam, Takanori Yamagata, et al.
Neurochemistry International|September 13, 2006
Dopaminergic neuronal loss in transgenic mice expressing the Parkinson's disease-associated UCH-L1 I93M mutantRieko Setsuie, Yu-Lai Wang, Hideki Mochizuki, et al.
Neurogenetics|October 5, 2013
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhoodChihiro Ohba, Hitoshi Osaka, Mizue Iai, et al.
Nature Genetics|May 13, 2008
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathyHirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi, et al.
Neurology|April 8, 2014
PIGA mutations cause early-onset epileptic encephalopathies and distinctive featuresMitsuhiro Kato, Hirotomo Saitsu, Yoshiko Murakami, et al.
Journal of Medical Genetics|April 13, 2023
Strategic validation of variants of uncertain significance in <i>ECHS1</i> genetic testingYoshihito Kishita, Ayumu Sugiura, Takanori Onuki, et al.
Human Molecular Genetics|August 13, 2003
Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuronHitoshi Osaka, Yu-Lai Wang, Koji Takada, et al.
Human Mutation|October 12, 2013
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathyHirofumi Kodera, Kazuyuki Nakamura, Hitoshi Osaka, et al.
Brain & Development|December 30, 2025
Ferroptosis susceptibility in primary coenzyme Q<sub>10</sub> deficiency: Cellular insights from patient fibroblasts and clinical course of six individualsChika Watanabe, Akihiko Miyauchi, Shiho Aoki, et al.
European Journal of Human Genetics : EJHG|May 14, 2015
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delayHirotomo Saitsu, Ryoko Fukai, Bruria Ben-Zeev, et al.
Pageof 22