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

Daniele Ghezzi

Showing results (31-40 of 143) with videos related to

Pageof 15
Sort By:
Frontiers in Genetics|December 25, 2018
Clinical and Biochemical Features in a Patient With <i>Mitochondrial Fission Factor</i> Gene AlterationAlessia Nasca, Francesca Nardecchia, Anna Commone, et al.
Neuromuscular Disorders : NMD|July 27, 2012
MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit ICostanza Lamperti, Daria Diodato, Eleonora Lamantea, et al.
Frontiers in Genetics|December 3, 2014
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesionsLaura Melchionda, Nadirah S Damseh, Bassam Y Abu Libdeh, et al.
Biotech (Basel (Switzerland))|February 21, 2025
Bioinformatics Tools for NGS-Based Identification of Single Nucleotide Variants and Large-Scale Rearrangements in Mitochondrial DNAMarco Barresi, Giulia Dal Santo, Rossella Izzo, et al.
American Journal of Human Genetics|September 6, 2008
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiencyDaniele Ghezzi, Ann Saada, Pio D'Adamo, et al.
Human Molecular Genetics|January 1, 2010
Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulatorCristina Dallabona, René Massimiliano Marsano, Paola Arzuffi, et al.
Human Mutation|September 10, 2013
A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activityFederica Invernizzi, Marco Tigano, Cristina Dallabona, et al.
Frontiers in Microbiology|October 10, 2022
Insights into the microbial life in silica-rich subterranean environments: microbial communities and ecological interactions in an orthoquartzite cave (Imawarì Yeuta, Auyan Tepui, Venezuela)Daniele Ghezzi, Lisa Foschi, Andrea Firrincieli, et al.
Biomolecules|September 27, 2025
A De Novo <i>DNM1L</i> Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic NeuropathyAlessia Nasca, Alessia Catania, Andrea Legati, et al.
JIMD Reports|March 17, 2015
Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of LiteratureAnna Ardissone, Tiziana Granata, Andrea Legati, et al.
Pageof 15

Showing results (31-40 of 143) with videos related to

Sort By:
Pageof 15
Frontiers in Genetics|December 25, 2018
Clinical and Biochemical Features in a Patient With <i>Mitochondrial Fission Factor</i> Gene AlterationAlessia Nasca, Francesca Nardecchia, Anna Commone, et al.
Neuromuscular Disorders : NMD|July 27, 2012
MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit ICostanza Lamperti, Daria Diodato, Eleonora Lamantea, et al.
Frontiers in Genetics|December 3, 2014
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesionsLaura Melchionda, Nadirah S Damseh, Bassam Y Abu Libdeh, et al.
Biotech (Basel (Switzerland))|February 21, 2025
Bioinformatics Tools for NGS-Based Identification of Single Nucleotide Variants and Large-Scale Rearrangements in Mitochondrial DNAMarco Barresi, Giulia Dal Santo, Rossella Izzo, et al.
American Journal of Human Genetics|September 6, 2008
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiencyDaniele Ghezzi, Ann Saada, Pio D'Adamo, et al.
Human Molecular Genetics|January 1, 2010
Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulatorCristina Dallabona, René Massimiliano Marsano, Paola Arzuffi, et al.
Human Mutation|September 10, 2013
A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activityFederica Invernizzi, Marco Tigano, Cristina Dallabona, et al.
Frontiers in Microbiology|October 10, 2022
Insights into the microbial life in silica-rich subterranean environments: microbial communities and ecological interactions in an orthoquartzite cave (Imawarì Yeuta, Auyan Tepui, Venezuela)Daniele Ghezzi, Lisa Foschi, Andrea Firrincieli, et al.
Biomolecules|September 27, 2025
A De Novo <i>DNM1L</i> Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic NeuropathyAlessia Nasca, Alessia Catania, Andrea Legati, et al.
JIMD Reports|March 17, 2015
Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of LiteratureAnna Ardissone, Tiziana Granata, Andrea Legati, et al.
Pageof 15