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Hitoshi Osaka

Showing results (131-140 of 218) with videos related to

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Diagnostics (Basel, Switzerland)|January 11, 2024
Temporal Trend of the SARS-CoV-2 Omicron Variant and RSV in the Nasal Cavity and Accuracy of the Newly Developed Antigen-Detecting Rapid Diagnostic TestDaisuke Tamura, Yuji Morisawa, Takashi Mato, et al.
Biochemical and Biophysical Research Communications|April 23, 2003
Alterations of structure and hydrolase activity of parkinsonism-associated human ubiquitin carboxyl-terminal hydrolase L1 variantsKaori Nishikawa, Hang Li, Ryoichi Kawamura, et al.
Molecular Genetics & Genomic Medicine|June 27, 2022
A case of congenital fiber-type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutationAyumi Matsumoto, Hidetoshi Tsuda, Sadahiro Furui, et al.
Molecular Genetics and Metabolism Reports|November 30, 2016
A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndromeHiroko Shimbo, Mariko Takagi, Mitsuko Okuda, et al.
Brain & Development|March 26, 2018
A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAPAyumi Matsumoto, Janyerkye Tulyeu, Rieko Furukawa, et al.
Epilepsia|November 28, 2015
De novo DNM1 mutations in two cases of epileptic encephalopathyMitsuko Nakashima, Takeshi Kouga, Charles Marques Lourenço, et al.
The American Journal of Pathology|December 26, 2003
Role of ubiquitin carboxy terminal hydrolase-L1 in neural cell apoptosis induced by ischemic retinal injury in vivoTakayuki Harada, Chikako Harada, Yu-Lai Wang, et al.
Brain & Development|May 7, 2013
Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutationsJun-ichi Takanashi, Hitoshi Osaka, Hirotomo Saitsu, et al.
American Journal of Medical Genetics. Part A|November 23, 2011
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)Hirotomo Saitsu, Hitoshi Osaka, Shirou Sugiyama, et al.
Journal of the Neurological Sciences|September 4, 2015
Predictive score for early diagnosis of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD)Hiroko Tada, Jun-ichi Takanashi, Hideo Okuno, et al.
Pageof 22

Showing results (131-140 of 218) with videos related to

Sort By:
Pageof 22
Diagnostics (Basel, Switzerland)|January 11, 2024
Temporal Trend of the SARS-CoV-2 Omicron Variant and RSV in the Nasal Cavity and Accuracy of the Newly Developed Antigen-Detecting Rapid Diagnostic TestDaisuke Tamura, Yuji Morisawa, Takashi Mato, et al.
Biochemical and Biophysical Research Communications|April 23, 2003
Alterations of structure and hydrolase activity of parkinsonism-associated human ubiquitin carboxyl-terminal hydrolase L1 variantsKaori Nishikawa, Hang Li, Ryoichi Kawamura, et al.
Molecular Genetics & Genomic Medicine|June 27, 2022
A case of congenital fiber-type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutationAyumi Matsumoto, Hidetoshi Tsuda, Sadahiro Furui, et al.
Molecular Genetics and Metabolism Reports|November 30, 2016
A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndromeHiroko Shimbo, Mariko Takagi, Mitsuko Okuda, et al.
Brain & Development|March 26, 2018
A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAPAyumi Matsumoto, Janyerkye Tulyeu, Rieko Furukawa, et al.
Epilepsia|November 28, 2015
De novo DNM1 mutations in two cases of epileptic encephalopathyMitsuko Nakashima, Takeshi Kouga, Charles Marques Lourenço, et al.
The American Journal of Pathology|December 26, 2003
Role of ubiquitin carboxy terminal hydrolase-L1 in neural cell apoptosis induced by ischemic retinal injury in vivoTakayuki Harada, Chikako Harada, Yu-Lai Wang, et al.
Brain & Development|May 7, 2013
Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutationsJun-ichi Takanashi, Hitoshi Osaka, Hirotomo Saitsu, et al.
American Journal of Medical Genetics. Part A|November 23, 2011
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)Hirotomo Saitsu, Hitoshi Osaka, Shirou Sugiyama, et al.
Journal of the Neurological Sciences|September 4, 2015
Predictive score for early diagnosis of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD)Hiroko Tada, Jun-ichi Takanashi, Hideo Okuno, et al.
Pageof 22