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Massimo Zeviani

Showing results (121-130 of 289) with videos related to

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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|August 2, 2005
Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylationJoslyn K Brunelle, Eric L Bell, Nancy M Quesada, 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.
Journal of Child Neurology|May 25, 2002
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiencyClaudio Bruno, Roberta Biancheri, Barbara Garavaglia, et al.
Nucleic Acids Research|August 14, 2018
A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriLAli Al-Behadili, Jay P Uhler, Anna-Karin Berglund, et al.
Human Molecular Genetics|March 16, 2004
Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stabilityFlavia Fontanesi, Luigi Palmieri, Pasquale Scarcia, et al.
Brain : a Journal of Neurology|April 28, 2006
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 casesCharalampos Tzoulis, Bernt A Engelsen, Wenche Telstad, et al.
American Journal of Human Genetics|May 24, 2008
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidaseValeria Massa, Erika Fernandez-Vizarra, Saad Alshahwan, et al.
Annals of Neurology|January 31, 2003
The V368i mutation in Twinkle does not segregate with AdPEOJoaquín Arenas, Egill Briem, Henrik Dahl, et al.
Human Molecular Genetics|April 4, 2007
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathyErika Fernandez-Vizarra, Marianna Bugiani, Paola Goffrini, et al.
Pageof 29

Showing results (121-130 of 289) with videos related to

Sort By:
Pageof 29
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|August 2, 2005
Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylationJoslyn K Brunelle, Eric L Bell, Nancy M Quesada, 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.
Journal of Child Neurology|May 25, 2002
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiencyClaudio Bruno, Roberta Biancheri, Barbara Garavaglia, et al.
Nucleic Acids Research|August 14, 2018
A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriLAli Al-Behadili, Jay P Uhler, Anna-Karin Berglund, et al.
Human Molecular Genetics|March 16, 2004
Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stabilityFlavia Fontanesi, Luigi Palmieri, Pasquale Scarcia, et al.
Brain : a Journal of Neurology|April 28, 2006
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 casesCharalampos Tzoulis, Bernt A Engelsen, Wenche Telstad, et al.
American Journal of Human Genetics|May 24, 2008
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidaseValeria Massa, Erika Fernandez-Vizarra, Saad Alshahwan, et al.
Annals of Neurology|January 31, 2003
The V368i mutation in Twinkle does not segregate with AdPEOJoaquín Arenas, Egill Briem, Henrik Dahl, et al.
Human Molecular Genetics|April 4, 2007
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathyErika Fernandez-Vizarra, Marianna Bugiani, Paola Goffrini, et al.
Pageof 29