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Massimo Zeviani

Showing results (191-200 of 289) with videos related to

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Molecular Genetics and Metabolism|November 6, 2020
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolutionFrederic Tort, Estibaliz Barredo, Ranjani Parthasarathy, et al.
Biochimica Et Biophysica Acta. Bioenergetics|March 17, 2021
SILAC-based complexome profiling dissects the structural organization of the human respiratory supercomplexes in SCAFI<sup>KO</sup> cellsErika Fernández-Vizarra, Sandra López-Calcerrada, Luke E Formosa, et al.
The EMBO Journal|January 9, 2020
Respiratory supercomplexes act as a platform for complex III-mediated maturation of human mitochondrial complexes I and IVMargherita Protasoni, Rafael Pérez-Pérez, Teresa Lobo-Jarne, et al.
Neurology. Genetics|November 2, 2020
Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by <i>POLR3A</i> mutationsVanessa Zanette, Aurelio Reyes, Mark Johnson, et al.
Brain : a Journal of Neurology|May 31, 2007
Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathyEdoardo Malfatti, Marianna Bugiani, Federica Invernizzi, et al.
American Journal of Human Genetics|November 6, 2012
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial diseaseAlessia Indrieri, Vanessa Alexandra van Rahden, Valeria Tiranti, et al.
American Journal of Human Genetics|June 23, 2015
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial EncephalomyopathyAurelio Reyes, Laura Melchionda, Alessia Nasca, et al.
EMBO Molecular Medicine|December 16, 2018
APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROSAlba Signes, Raffaele Cerutti, Anna S Dickson, et al.
Ophthalmology|April 27, 2010
OPA1 mutations associated with dominant optic atrophy influence optic nerve head sizePiero Barboni, Michele Carbonelli, Giacomo Savini, et al.
Nature Communications|April 9, 2021
Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunctionRoberta Peruzzo, Samantha Corrà, Roberto Costa, et al.
Pageof 29

Showing results (191-200 of 289) with videos related to

Sort By:
Pageof 29
Molecular Genetics and Metabolism|November 6, 2020
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolutionFrederic Tort, Estibaliz Barredo, Ranjani Parthasarathy, et al.
Biochimica Et Biophysica Acta. Bioenergetics|March 17, 2021
SILAC-based complexome profiling dissects the structural organization of the human respiratory supercomplexes in SCAFI<sup>KO</sup> cellsErika Fernández-Vizarra, Sandra López-Calcerrada, Luke E Formosa, et al.
The EMBO Journal|January 9, 2020
Respiratory supercomplexes act as a platform for complex III-mediated maturation of human mitochondrial complexes I and IVMargherita Protasoni, Rafael Pérez-Pérez, Teresa Lobo-Jarne, et al.
Neurology. Genetics|November 2, 2020
Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by <i>POLR3A</i> mutationsVanessa Zanette, Aurelio Reyes, Mark Johnson, et al.
Brain : a Journal of Neurology|May 31, 2007
Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathyEdoardo Malfatti, Marianna Bugiani, Federica Invernizzi, et al.
American Journal of Human Genetics|November 6, 2012
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial diseaseAlessia Indrieri, Vanessa Alexandra van Rahden, Valeria Tiranti, et al.
American Journal of Human Genetics|June 23, 2015
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial EncephalomyopathyAurelio Reyes, Laura Melchionda, Alessia Nasca, et al.
EMBO Molecular Medicine|December 16, 2018
APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROSAlba Signes, Raffaele Cerutti, Anna S Dickson, et al.
Ophthalmology|April 27, 2010
OPA1 mutations associated with dominant optic atrophy influence optic nerve head sizePiero Barboni, Michele Carbonelli, Giacomo Savini, et al.
Nature Communications|April 9, 2021
Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunctionRoberta Peruzzo, Samantha Corrà, Roberto Costa, et al.
Pageof 29