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Akira Ohtake

Showing results (131-140 of 144) with videos related to

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American Journal of Human Genetics|July 19, 2016
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile HepatopathyRobert Kopajtich, Kei Murayama, Andreas R Janecke, et al.
Science Advances|April 4, 2025
Atf3 controls transitioning in female mitochondrial cardiomyopathy as identified by spatial and single-cell transcriptomicsTasneem Qaqorh, Yusuke Takahashi, Kohei Sameshima, et al.
American Journal of Human Genetics|February 7, 2015
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiencyGloria Brea-Calvo, Tobias B Haack, Daniela Karall, et al.
Plos Genetics|January 8, 2016
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex DeficienciesMasakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita, et al.
The Journal of Biological Chemistry|August 8, 2008
Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressivaToru Fukuda, Masakazu Kohda, Kazuhiro Kanomata, et al.
Ebiomedicine|March 7, 2018
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant LoadYi Shiau Ng, Nichola Z Lax, Paul Maddison, et al.
Brain : a Journal of Neurology|May 27, 2017
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolismRadha Desai, Ann E Frazier, Romina Durigon, et al.
American Journal of Human Genetics|September 26, 2017
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain DeficienciesRené G Feichtinger, Monika Oláhová, Yoshihito Kishita, et al.
Annals of Clinical and Translational Neurology|May 23, 2015
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvementTobias B Haack, Christopher B Jackson, Kei Murayama, et al.
Med (New York, N.Y.)|February 12, 2021
Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locusAnn E Frazier, Alison G Compton, Yoshihito Kishita, et al.
Pageof 15

Showing results (131-140 of 144) with videos related to

Sort By:
Pageof 15
American Journal of Human Genetics|July 19, 2016
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile HepatopathyRobert Kopajtich, Kei Murayama, Andreas R Janecke, et al.
Science Advances|April 4, 2025
Atf3 controls transitioning in female mitochondrial cardiomyopathy as identified by spatial and single-cell transcriptomicsTasneem Qaqorh, Yusuke Takahashi, Kohei Sameshima, et al.
American Journal of Human Genetics|February 7, 2015
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiencyGloria Brea-Calvo, Tobias B Haack, Daniela Karall, et al.
Plos Genetics|January 8, 2016
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex DeficienciesMasakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita, et al.
The Journal of Biological Chemistry|August 8, 2008
Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressivaToru Fukuda, Masakazu Kohda, Kazuhiro Kanomata, et al.
Ebiomedicine|March 7, 2018
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant LoadYi Shiau Ng, Nichola Z Lax, Paul Maddison, et al.
Brain : a Journal of Neurology|May 27, 2017
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolismRadha Desai, Ann E Frazier, Romina Durigon, et al.
American Journal of Human Genetics|September 26, 2017
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain DeficienciesRené G Feichtinger, Monika Oláhová, Yoshihito Kishita, et al.
Annals of Clinical and Translational Neurology|May 23, 2015
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvementTobias B Haack, Christopher B Jackson, Kei Murayama, et al.
Med (New York, N.Y.)|February 12, 2021
Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locusAnn E Frazier, Alison G Compton, Yoshihito Kishita, et al.
Pageof 15