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Akira Ohtake

Showing results (81-90 of 144) with videos related to

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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.
Journal of Pediatric Endocrinology & Metabolism : JPEM|September 2, 2019
Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10Takumi Kadoya, Azumi Sakakibara, Kana Kitayama, et al.
HGG Advances|June 10, 2026
Nanopore-based haplotype-resolved X-chromosome inactivation analysis for clinical severity assessment in X-linked disorders: an AIFM1 family study with proof-of-concept application to a mosaic PDHA1 carrierKohta Nakamura, Atsuko Okazaki, Daisuke Motooka, et al.
Journal of Clinical Pathology|August 21, 2020
Advanced pathological study for definite diagnosis of mitochondrial cardiomyopathyAtsuhito Takeda, Kei Murayama, Yasushi Okazaki, et al.
Neurology. Genetics|December 17, 2025
Identification of Intronic Variants in <i>NDUFA3</i> as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA SequencingKohta Nakamura, Yoshihito Kishita, Ayumu Sugiura, et al.
Journal of Human Genetics|January 27, 2017
A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathyNurun N Borna, Yoshihito Kishita, Kaori Ishikawa, 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.
Neurogenetics|January 5, 2019
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndromeNurun Nahar Borna, Yoshihito Kishita, Masakazu Kohda, et al.
Brain & Development|December 4, 2014
Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological reportHesham Montassir, Yoshihiro Maegaki, Kei Murayama, et al.
The Journal of Clinical Investigation|September 17, 2004
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiencyDenise M Kirby, Renato Salemi, Canny Sugiana, et al.
Pageof 15

Showing results (81-90 of 144) with videos related to

Sort By:
Pageof 15
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.
Journal of Pediatric Endocrinology & Metabolism : JPEM|September 2, 2019
Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10Takumi Kadoya, Azumi Sakakibara, Kana Kitayama, et al.
HGG Advances|June 10, 2026
Nanopore-based haplotype-resolved X-chromosome inactivation analysis for clinical severity assessment in X-linked disorders: an AIFM1 family study with proof-of-concept application to a mosaic PDHA1 carrierKohta Nakamura, Atsuko Okazaki, Daisuke Motooka, et al.
Journal of Clinical Pathology|August 21, 2020
Advanced pathological study for definite diagnosis of mitochondrial cardiomyopathyAtsuhito Takeda, Kei Murayama, Yasushi Okazaki, et al.
Neurology. Genetics|December 17, 2025
Identification of Intronic Variants in <i>NDUFA3</i> as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA SequencingKohta Nakamura, Yoshihito Kishita, Ayumu Sugiura, et al.
Journal of Human Genetics|January 27, 2017
A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathyNurun N Borna, Yoshihito Kishita, Kaori Ishikawa, 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.
Neurogenetics|January 5, 2019
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndromeNurun Nahar Borna, Yoshihito Kishita, Masakazu Kohda, et al.
Brain & Development|December 4, 2014
Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological reportHesham Montassir, Yoshihiro Maegaki, Kei Murayama, et al.
The Journal of Clinical Investigation|September 17, 2004
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiencyDenise M Kirby, Renato Salemi, Canny Sugiana, et al.
Pageof 15