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Daniele Ghezzi

Showing results (51-60 of 143) with videos related to

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Biofilm|July 18, 2025
Vaginal <i>Lactobacillus gasseri</i> biosurfactant: a novel bio- and eco-compatible anti-<i>Candida</i> agentFederica Monti, Barbara Giordani, Stefano Fedi, et al.
Disease Models & Mechanisms|March 6, 2019
The zebrafish orthologue of the human hepatocerebral disease gene <i>MPV17</i> plays pleiotropic roles in mitochondriaLaura Martorano, Margherita Peron, Claudio Laquatra, et al.
American Journal of Human Genetics|April 6, 2010
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factorDaniele Ghezzi, Irina Sevrioukova, Federica Invernizzi, et al.
EMBO Molecular Medicine|April 16, 2015
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathyLeonardo Bee, Alessia Nasca, Alice Zanolini, et al.
Cell Metabolism|January 11, 2016
Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHBNunziata Maio, Daniele Ghezzi, Daniela Verrigni, et al.
Human Mutation|July 12, 2020
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletionsSilvia Marchet, Andrea Legati, Alessia Nasca, et al.
American Journal of Medical Genetics. Part A|August 24, 2016
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsyFederico Raviglione, Giorgio Conte, Daniele Ghezzi, et al.
Neuropediatrics|March 3, 2023
Expanding the Spectrum of NUBPL-Related LeukodystrophyDavide Tonduti, Alberto A Zambon, Daniele Ghezzi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 3, 2014
A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunctionDaniele Ghezzi, Carlotta Canavese, Gordana Kovacevic, et al.
Molecular Genetics and Metabolism|September 27, 2012
A novel homozygous mutation in SUCLA2 gene identified by exome sequencingCostanza Lamperti, Mingyan Fang, Federica Invernizzi, et al.
Pageof 15

Showing results (51-60 of 143) with videos related to

Sort By:
Pageof 15
Biofilm|July 18, 2025
Vaginal <i>Lactobacillus gasseri</i> biosurfactant: a novel bio- and eco-compatible anti-<i>Candida</i> agentFederica Monti, Barbara Giordani, Stefano Fedi, et al.
Disease Models & Mechanisms|March 6, 2019
The zebrafish orthologue of the human hepatocerebral disease gene <i>MPV17</i> plays pleiotropic roles in mitochondriaLaura Martorano, Margherita Peron, Claudio Laquatra, et al.
American Journal of Human Genetics|April 6, 2010
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factorDaniele Ghezzi, Irina Sevrioukova, Federica Invernizzi, et al.
EMBO Molecular Medicine|April 16, 2015
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathyLeonardo Bee, Alessia Nasca, Alice Zanolini, et al.
Cell Metabolism|January 11, 2016
Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHBNunziata Maio, Daniele Ghezzi, Daniela Verrigni, et al.
Human Mutation|July 12, 2020
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletionsSilvia Marchet, Andrea Legati, Alessia Nasca, et al.
American Journal of Medical Genetics. Part A|August 24, 2016
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsyFederico Raviglione, Giorgio Conte, Daniele Ghezzi, et al.
Neuropediatrics|March 3, 2023
Expanding the Spectrum of NUBPL-Related LeukodystrophyDavide Tonduti, Alberto A Zambon, Daniele Ghezzi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 3, 2014
A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunctionDaniele Ghezzi, Carlotta Canavese, Gordana Kovacevic, et al.
Molecular Genetics and Metabolism|September 27, 2012
A novel homozygous mutation in SUCLA2 gene identified by exome sequencingCostanza Lamperti, Mingyan Fang, Federica Invernizzi, et al.
Pageof 15