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Akira Ohtake

Showing results (121-130 of 144) with videos related to

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Orphanet Journal of Rare Diseases|July 25, 2020
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantationMasaru Shimura, Naomi Kuranobu, Minako Ogawa-Tominaga, et al.
Journal of Clinical Immunology|September 28, 2023
Antibody Deficiency in Patients with Biallelic KARS1 MutationsFrancesco Saettini, Fabiola Guerra, Grazia Fazio, et al.
Biochemical and Biophysical Research Communications|March 8, 2011
A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206HSatoshi Ohte, Masashi Shin, Hiroki Sasanuma, et al.
Journal of Human Genetics|August 19, 2011
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndromeTetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, et al.
International Journal of Cardiology|July 23, 2021
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patientsAtsuko Imai-Okazaki, Ayako Matsunaga, Yukiko Yatsuka, et al.
Pediatric Research|April 24, 2025
Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutationsMadori T Osawa, Yasunori Fujita, Kazuki Kagami, et al.
American Journal of Human Genetics|November 3, 2015
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26Yoshihito Kishita, Aleksandra Pajak, Nikhita Ajit Bolar, et al.
Biochemistry and Biophysics Reports|April 13, 2026
Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidosesWataru Oboshi, Asami Hirakiyama, Masahiro Miura, et al.
Molecular Genetics and Metabolism|August 13, 2017
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivityGo Tajima, Keiichi Hara, Miyuki Tsumura, et al.
Brain : a Journal of Neurology|May 3, 2018
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathyYujiro Higuchi, Ryuta Okunushi, Taichi Hara, et al.
Pageof 15

Showing results (121-130 of 144) with videos related to

Sort By:
Pageof 15
Orphanet Journal of Rare Diseases|July 25, 2020
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantationMasaru Shimura, Naomi Kuranobu, Minako Ogawa-Tominaga, et al.
Journal of Clinical Immunology|September 28, 2023
Antibody Deficiency in Patients with Biallelic KARS1 MutationsFrancesco Saettini, Fabiola Guerra, Grazia Fazio, et al.
Biochemical and Biophysical Research Communications|March 8, 2011
A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206HSatoshi Ohte, Masashi Shin, Hiroki Sasanuma, et al.
Journal of Human Genetics|August 19, 2011
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndromeTetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, et al.
International Journal of Cardiology|July 23, 2021
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patientsAtsuko Imai-Okazaki, Ayako Matsunaga, Yukiko Yatsuka, et al.
Pediatric Research|April 24, 2025
Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutationsMadori T Osawa, Yasunori Fujita, Kazuki Kagami, et al.
American Journal of Human Genetics|November 3, 2015
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26Yoshihito Kishita, Aleksandra Pajak, Nikhita Ajit Bolar, et al.
Biochemistry and Biophysics Reports|April 13, 2026
Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidosesWataru Oboshi, Asami Hirakiyama, Masahiro Miura, et al.
Molecular Genetics and Metabolism|August 13, 2017
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivityGo Tajima, Keiichi Hara, Miyuki Tsumura, et al.
Brain : a Journal of Neurology|May 3, 2018
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathyYujiro Higuchi, Ryuta Okunushi, Taichi Hara, et al.
Pageof 15