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Atsuko Imai-Okazaki

Showing results (1-10 of 23) with videos related to

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Nature Reviews. Cardiology|June 18, 2026
Mitochondrial cardiomyopathy: bridging molecular mechanisms and clinical frontiersAtsuko Imai-Okazaki, Liming Pei, Douglas C Wallace
Mitochondrion|June 5, 2021
Clinical heterogeneity in patients with m.4412G > A MT-TM mutation and different heteroplasmy levelsAtsuko Imai-Okazaki, Nobuyasu Yagi, Kazuhiro R Nitta, et al.
Molecular Genetics and Metabolism|April 24, 2025
Role of BOLA3 in the mitochondrial Fe-S cluster clarified by metabolomic analysisHiroyuki Iijima, Atsuko Imai-Okazaki, Yoshihito Kishita, et al.
Human Mutation|July 20, 2017
HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencingAtsuko Imai-Okazaki, Masakazu Kohda, Kaori Kobayashi, et al.
Brain & Development|August 28, 2021
Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case reportTomoko Kashiki, Jun Kido, Ken Momosaki, et al.
Molecular Genetics & Genomic Medicine|August 5, 2020
A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndromeYoshihito Kishita, Masaru Shimura, Masakazu Kohda, et al.
Brain : a Journal of Neurology|May 29, 2020
NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illnessNurun Nahar Borna, Yoshihito Kishita, Jiro Abe, et al.
Journal of Inherited Metabolic Disease|September 2, 2022
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial diseaseAtsuko Imai-Okazaki, Kazuhiro R Nitta, Yukiko Yatsuka, et al.
Molecular Genetics and Metabolism Reports|March 27, 2023
Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A <i>MT-TS2</i> pathogenic variant in a Japanese familySayaka Suzuki-Ajihara, Megumi Saito-Tsuruoka, Hiroko Harashima, et al.
Journal of Human Genetics|July 22, 2025
Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunctionKohta Nakamura, Yoshihito Kishita, Atsuko Imai-Okazaki, et al.
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Showing results (1-10 of 23) with videos related to

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Pageof 3
Nature Reviews. Cardiology|June 18, 2026
Mitochondrial cardiomyopathy: bridging molecular mechanisms and clinical frontiersAtsuko Imai-Okazaki, Liming Pei, Douglas C Wallace
Mitochondrion|June 5, 2021
Clinical heterogeneity in patients with m.4412G > A MT-TM mutation and different heteroplasmy levelsAtsuko Imai-Okazaki, Nobuyasu Yagi, Kazuhiro R Nitta, et al.
Molecular Genetics and Metabolism|April 24, 2025
Role of BOLA3 in the mitochondrial Fe-S cluster clarified by metabolomic analysisHiroyuki Iijima, Atsuko Imai-Okazaki, Yoshihito Kishita, et al.
Human Mutation|July 20, 2017
HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencingAtsuko Imai-Okazaki, Masakazu Kohda, Kaori Kobayashi, et al.
Brain & Development|August 28, 2021
Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case reportTomoko Kashiki, Jun Kido, Ken Momosaki, et al.
Molecular Genetics & Genomic Medicine|August 5, 2020
A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndromeYoshihito Kishita, Masaru Shimura, Masakazu Kohda, et al.
Brain : a Journal of Neurology|May 29, 2020
NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illnessNurun Nahar Borna, Yoshihito Kishita, Jiro Abe, et al.
Journal of Inherited Metabolic Disease|September 2, 2022
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial diseaseAtsuko Imai-Okazaki, Kazuhiro R Nitta, Yukiko Yatsuka, et al.
Molecular Genetics and Metabolism Reports|March 27, 2023
Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A <i>MT-TS2</i> pathogenic variant in a Japanese familySayaka Suzuki-Ajihara, Megumi Saito-Tsuruoka, Hiroko Harashima, et al.
Journal of Human Genetics|July 22, 2025
Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunctionKohta Nakamura, Yoshihito Kishita, Atsuko Imai-Okazaki, et al.
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