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Vincent Procaccio

Showing results (171-180 of 197) with videos related to

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Neurology. Genetics|June 18, 2020
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophyMajida Charif, Arnaud Chevrollier, Naïg Gueguen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disordersCeline Bris, David Goudenège, Valerie Desquiret-Dumas, et al.
Human Molecular Genetics|April 29, 2025
The copper ionophore disulfiram improves mitochondrial function in various yeast and human cellular models of mitochondrial diseasesClaire Almyre, Nolwenn Bounaix, François Godard, et al.
Brain : a Journal of Neurology|October 31, 2024
Nifuroxazide rescues the deleterious effects due to CHCHD10-associated MICOS defects in disease modelsBaptiste Ropert, Sylvie Bannwarth, Emmanuelle C Genin, et al.
Communications Biology|January 12, 2023
OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseasesGabriel Sturm, Kalpita R Karan, Anna S Monzel, et al.
Frontiers in Immunology|December 6, 2021
Co-Exposure of Cardiomyocytes to IFN-γ and TNF-α Induces Mitochondrial Dysfunction and Nitro-Oxidative Stress: Implications for the Pathogenesis of Chronic Chagas Disease CardiomyopathyJoão Paulo Silva Nunes, Pauline Andrieux, Pauline Brochet, et al.
Annals of Clinical and Translational Neurology|May 4, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohortCécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, et al.
American Journal of Human Genetics|August 23, 2016
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset EncephalopathyEstelle Colin, Jens Daniel, Alban Ziegler, et al.
Journal of the American College of Cardiology|October 6, 2022
Cardiac Outcomes in Adults With Mitochondrial DiseasesKonstantinos Savvatis, Christoffer Rasmus Vissing, Lori Klouvi, et al.
Brain Communications|May 31, 2021
Dominant <i>ACO2</i> mutations are a frequent cause of isolated optic atrophyMajida Charif, Naïg Gueguen, Marc Ferré, et al.
Pageof 20

Showing results (171-180 of 197) with videos related to

Sort By:
Pageof 20
Neurology. Genetics|June 18, 2020
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophyMajida Charif, Arnaud Chevrollier, Naïg Gueguen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disordersCeline Bris, David Goudenège, Valerie Desquiret-Dumas, et al.
Human Molecular Genetics|April 29, 2025
The copper ionophore disulfiram improves mitochondrial function in various yeast and human cellular models of mitochondrial diseasesClaire Almyre, Nolwenn Bounaix, François Godard, et al.
Brain : a Journal of Neurology|October 31, 2024
Nifuroxazide rescues the deleterious effects due to CHCHD10-associated MICOS defects in disease modelsBaptiste Ropert, Sylvie Bannwarth, Emmanuelle C Genin, et al.
Communications Biology|January 12, 2023
OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseasesGabriel Sturm, Kalpita R Karan, Anna S Monzel, et al.
Frontiers in Immunology|December 6, 2021
Co-Exposure of Cardiomyocytes to IFN-γ and TNF-α Induces Mitochondrial Dysfunction and Nitro-Oxidative Stress: Implications for the Pathogenesis of Chronic Chagas Disease CardiomyopathyJoão Paulo Silva Nunes, Pauline Andrieux, Pauline Brochet, et al.
Annals of Clinical and Translational Neurology|May 4, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohortCécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, et al.
American Journal of Human Genetics|August 23, 2016
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset EncephalopathyEstelle Colin, Jens Daniel, Alban Ziegler, et al.
Journal of the American College of Cardiology|October 6, 2022
Cardiac Outcomes in Adults With Mitochondrial DiseasesKonstantinos Savvatis, Christoffer Rasmus Vissing, Lori Klouvi, et al.
Brain Communications|May 31, 2021
Dominant <i>ACO2</i> mutations are a frequent cause of isolated optic atrophyMajida Charif, Naïg Gueguen, Marc Ferré, et al.
Pageof 20