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Enrico Baruffini

Showing results (41-50 of 56) with videos related to

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Cell Death & Disease|April 20, 2024
Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatmentRaquel Brañas Casas, Alessandro Zuppardo, Giovanni Risato, et al.
Mitochondrion|August 25, 2019
Amino and carboxy-terminal extensions of yeast mitochondrial DNA polymerase assemble both the polymerization and exonuclease active sitesCarlos H Trasviña-Arenas, Nallely Hoyos-Gonzalez, Atzimba Y Castro-Lara, et al.
Frontiers in Genetics|September 5, 2024
Severe mitochondrial encephalomyopathy caused by <i>de novo</i> variants in <i>OPA1</i> geneMichela Di Nottia, Teresa Rizza, Enrico Baruffini, et al.
Human Genetics|April 9, 2021
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegenerationMarjo K Hytönen, Riika Sarviaho, Christopher B Jackson, et al.
American Journal of Human Genetics|April 28, 2015
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion IslandAlice Hadchouel, Thomas Wieland, Matthias Griese, et al.
Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.
EMBO Molecular Medicine|December 25, 2015
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegenerationDario Brunetti, Janniche Torsvik, Cristina Dallabona, et al.
Plos Genetics|June 6, 2014
Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNAJohn W Yarham, Tek N Lamichhane, Angela Pyle, et al.
Journal of Medical Genetics|May 23, 2020
Mutation in the MICOS subunit gene <i>APOO</i> (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic featuresCristiane Benincá, Vanessa Zanette, Michele Brischigliaro, et al.
American Journal of Human Genetics|July 16, 2013
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathyTobias B Haack, Robert Kopajtich, Peter Freisinger, et al.
Pageof 6

Showing results (41-50 of 56) with videos related to

Sort By:
Pageof 6
Cell Death & Disease|April 20, 2024
Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatmentRaquel Brañas Casas, Alessandro Zuppardo, Giovanni Risato, et al.
Mitochondrion|August 25, 2019
Amino and carboxy-terminal extensions of yeast mitochondrial DNA polymerase assemble both the polymerization and exonuclease active sitesCarlos H Trasviña-Arenas, Nallely Hoyos-Gonzalez, Atzimba Y Castro-Lara, et al.
Frontiers in Genetics|September 5, 2024
Severe mitochondrial encephalomyopathy caused by <i>de novo</i> variants in <i>OPA1</i> geneMichela Di Nottia, Teresa Rizza, Enrico Baruffini, et al.
Human Genetics|April 9, 2021
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegenerationMarjo K Hytönen, Riika Sarviaho, Christopher B Jackson, et al.
American Journal of Human Genetics|April 28, 2015
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion IslandAlice Hadchouel, Thomas Wieland, Matthias Griese, et al.
Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.
EMBO Molecular Medicine|December 25, 2015
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegenerationDario Brunetti, Janniche Torsvik, Cristina Dallabona, et al.
Plos Genetics|June 6, 2014
Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNAJohn W Yarham, Tek N Lamichhane, Angela Pyle, et al.
Journal of Medical Genetics|May 23, 2020
Mutation in the MICOS subunit gene <i>APOO</i> (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic featuresCristiane Benincá, Vanessa Zanette, Michele Brischigliaro, et al.
American Journal of Human Genetics|July 16, 2013
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathyTobias B Haack, Robert Kopajtich, Peter Freisinger, et al.
Pageof 6