Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Enrico Baruffini

Showing results (31-40 of 56) with videos related to

Pageof 6
Sort By:
Hepatology (Baltimore, Md.)|November 2, 2010
Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicityJoanna D Stewart, Rita Horvath, Enrico Baruffini, et al.
Journal of Molecular Medicine (Berlin, Germany)|September 19, 2019
A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertensionHui-Lin Chin, Denise Li-Meng Goh, Furene Sijia Wang, et al.
Human Molecular Genetics|November 24, 2020
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutationsSerena J Aleo, Valentina Del Dotto, Mario Fogazza, et al.
Biochimica Et Biophysica Acta. General Subjects|April 3, 2020
Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human diseaseNallely Hoyos-Gonzalez, Carlos H Trasviña-Arenas, Andrea Degiorgi, et al.
American Journal of Human Genetics|May 22, 2012
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosisDaniele Ghezzi, Enrico Baruffini, Tobias B Haack, et al.
Cell Reports|June 22, 2017
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial FunctionsValentina Del Dotto, Prashant Mishra, Sara Vidoni, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|October 9, 2018
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell modelsValentina Del Dotto, Mario Fogazza, Francesco Musiani, et al.
The FEBS Journal|March 12, 2025
A steric gate prevents mutagenic dATP incorporation opposite 8-oxo-deoxyguanosine in mitochondrial DNA polymerasesNoe Baruch-Torres, Carlos H Trasviña-Arenas, Alexandru Ionut Gilea, et al.
International Journal of Molecular Sciences|January 25, 2025
De Novo <i>DNM1L</i> Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature ReviewMartina Magistrati, Luisa Zupin, Eleonora Lamantea, et al.
Journal of Medical Genetics|September 21, 2023
Recessive <i>MECR</i> pathogenic variants cause an LHON-like optic neuropathyClaudio Fiorini, Andrea Degiorgi, Maria Lucia Cascavilla, et al.
Pageof 6

Showing results (31-40 of 56) with videos related to

Sort By:
Pageof 6
Hepatology (Baltimore, Md.)|November 2, 2010
Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicityJoanna D Stewart, Rita Horvath, Enrico Baruffini, et al.
Journal of Molecular Medicine (Berlin, Germany)|September 19, 2019
A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertensionHui-Lin Chin, Denise Li-Meng Goh, Furene Sijia Wang, et al.
Human Molecular Genetics|November 24, 2020
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutationsSerena J Aleo, Valentina Del Dotto, Mario Fogazza, et al.
Biochimica Et Biophysica Acta. General Subjects|April 3, 2020
Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human diseaseNallely Hoyos-Gonzalez, Carlos H Trasviña-Arenas, Andrea Degiorgi, et al.
American Journal of Human Genetics|May 22, 2012
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosisDaniele Ghezzi, Enrico Baruffini, Tobias B Haack, et al.
Cell Reports|June 22, 2017
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial FunctionsValentina Del Dotto, Prashant Mishra, Sara Vidoni, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|October 9, 2018
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell modelsValentina Del Dotto, Mario Fogazza, Francesco Musiani, et al.
The FEBS Journal|March 12, 2025
A steric gate prevents mutagenic dATP incorporation opposite 8-oxo-deoxyguanosine in mitochondrial DNA polymerasesNoe Baruch-Torres, Carlos H Trasviña-Arenas, Alexandru Ionut Gilea, et al.
International Journal of Molecular Sciences|January 25, 2025
De Novo <i>DNM1L</i> Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature ReviewMartina Magistrati, Luisa Zupin, Eleonora Lamantea, et al.
Journal of Medical Genetics|September 21, 2023
Recessive <i>MECR</i> pathogenic variants cause an LHON-like optic neuropathyClaudio Fiorini, Andrea Degiorgi, Maria Lucia Cascavilla, et al.
Pageof 6