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Massimo Zeviani

Showing results (201-210 of 289) with videos related to

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Brain : a Journal of Neurology|February 8, 2013
Idebenone treatment in patients with OPA1-mutant dominant optic atrophyPiero Barboni, Maria Lucia Valentino, Chiara La Morgia, et al.
International Journal of Molecular Sciences|May 7, 2025
Uncovering a Novel Pathogenic Mechanism of <i>BCS1L</i> in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G VariantValeria Capaci, Luisa Zupin, Martina Magistrati, et al.
Acta Neuropathologica|December 23, 2017
Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damageIrene H Flønes, Erika Fernandez-Vizarra, Maria Lykouri, et al.
American Journal of Human Genetics|December 13, 2006
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTuLucia Valente, Valeria Tiranti, Rene Massimiliano Marsano, et al.
Iscience|October 9, 2023
Drosophila Mpv17 forms an ion channel and regulates energy metabolismSamantha Corrà, Vanessa Checchetto, Michele Brischigliaro, et al.
Molecular Psychiatry|July 8, 2020
Loss of function of the mitochondrial peptidase PITRM1 induces proteotoxic stress and Alzheimer's disease-like pathology in human cerebral organoidsMaría José Pérez, Dina Ivanyuk, Vasiliki Panagiotakopoulou, et al.
Orphanet Journal of Rare Diseases|May 3, 2013
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variantLaura Melchionda, Mingyan Fang, Hairong Wang, et al.
The Journal of Biological Chemistry|January 29, 2014
Functional characterization of drim2, the Drosophila melanogaster homolog of the yeast mitochondrial deoxynucleotide transporterCaterina Da-Rè, Elisa Franzolin, Alberto Biscontin, 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.
Cell Metabolism|May 7, 2009
Expression of the Ciona intestinalis alternative oxidase (AOX) in Drosophila complements defects in mitochondrial oxidative phosphorylationDaniel J M Fernandez-Ayala, Alberto Sanz, Suvi Vartiainen, et al.
Pageof 29

Showing results (201-210 of 289) with videos related to

Sort By:
Pageof 29
Brain : a Journal of Neurology|February 8, 2013
Idebenone treatment in patients with OPA1-mutant dominant optic atrophyPiero Barboni, Maria Lucia Valentino, Chiara La Morgia, et al.
International Journal of Molecular Sciences|May 7, 2025
Uncovering a Novel Pathogenic Mechanism of <i>BCS1L</i> in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G VariantValeria Capaci, Luisa Zupin, Martina Magistrati, et al.
Acta Neuropathologica|December 23, 2017
Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damageIrene H Flønes, Erika Fernandez-Vizarra, Maria Lykouri, et al.
American Journal of Human Genetics|December 13, 2006
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTuLucia Valente, Valeria Tiranti, Rene Massimiliano Marsano, et al.
Iscience|October 9, 2023
Drosophila Mpv17 forms an ion channel and regulates energy metabolismSamantha Corrà, Vanessa Checchetto, Michele Brischigliaro, et al.
Molecular Psychiatry|July 8, 2020
Loss of function of the mitochondrial peptidase PITRM1 induces proteotoxic stress and Alzheimer's disease-like pathology in human cerebral organoidsMaría José Pérez, Dina Ivanyuk, Vasiliki Panagiotakopoulou, et al.
Orphanet Journal of Rare Diseases|May 3, 2013
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variantLaura Melchionda, Mingyan Fang, Hairong Wang, et al.
The Journal of Biological Chemistry|January 29, 2014
Functional characterization of drim2, the Drosophila melanogaster homolog of the yeast mitochondrial deoxynucleotide transporterCaterina Da-Rè, Elisa Franzolin, Alberto Biscontin, 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.
Cell Metabolism|May 7, 2009
Expression of the Ciona intestinalis alternative oxidase (AOX) in Drosophila complements defects in mitochondrial oxidative phosphorylationDaniel J M Fernandez-Ayala, Alberto Sanz, Suvi Vartiainen, et al.
Pageof 29