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Valerio Carelli

Showing results (291-300 of 332) with videos related to

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Investigative Ophthalmology & Visual Science|October 20, 2017
The Photopic Negative Response: An Objective Measure of Retinal Ganglion Cell Function in Patients With Leber's Hereditary Optic NeuropathyRustum Karanjia, Adriana Berezovsky, Paula Yuri Sacai, et al.
Plos One|August 11, 2012
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathyAlessandro Achilli, Luisa Iommarini, Anna Olivieri, et al.
Science Translational Medicine|December 10, 2020
Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathyPatrick Yu-Wai-Man, Nancy J Newman, Valerio Carelli, et al.
Cancer & Metabolism|November 28, 2013
Respiratory complex I is essential to induce a Warburg profile in mitochondria-defective tumor cellsClaudia Calabrese, Luisa Iommarini, Ivana Kurelac, et al.
Annals of Neurology|March 31, 2015
Syndromic parkinsonism and dementia associated with OPA1 missense mutationsValerio Carelli, Olimpia Musumeci, Leonardo Caporali, et al.
Neurology|March 20, 2025
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8Sara Carli, Anna Levarlet, Daria Diodato, et al.
Brain : a Journal of Neurology|February 11, 2022
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndromeSarah L Stenton, Marketa Tesarova, Natalia L Sheremet, et al.
European Journal of Human Genetics : EJHG|May 3, 2024
COQ7 defect causes prenatal onset of mitochondrial CoQ<sub>10</sub> deficiency with cardiomyopathy and gastrointestinal obstructionIlaria Pettenuzzo, Sara Carli, Ana Sánchez-Cuesta, et al.
Neurology. Genetics|June 18, 2020
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophyMajida Charif, Arnaud Chevrollier, Naïg Gueguen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 11, 2014
Myoclonus in mitochondrial disordersMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Pageof 34

Showing results (291-300 of 332) with videos related to

Sort By:
Pageof 34
Investigative Ophthalmology & Visual Science|October 20, 2017
The Photopic Negative Response: An Objective Measure of Retinal Ganglion Cell Function in Patients With Leber's Hereditary Optic NeuropathyRustum Karanjia, Adriana Berezovsky, Paula Yuri Sacai, et al.
Plos One|August 11, 2012
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathyAlessandro Achilli, Luisa Iommarini, Anna Olivieri, et al.
Science Translational Medicine|December 10, 2020
Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathyPatrick Yu-Wai-Man, Nancy J Newman, Valerio Carelli, et al.
Cancer & Metabolism|November 28, 2013
Respiratory complex I is essential to induce a Warburg profile in mitochondria-defective tumor cellsClaudia Calabrese, Luisa Iommarini, Ivana Kurelac, et al.
Annals of Neurology|March 31, 2015
Syndromic parkinsonism and dementia associated with OPA1 missense mutationsValerio Carelli, Olimpia Musumeci, Leonardo Caporali, et al.
Neurology|March 20, 2025
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8Sara Carli, Anna Levarlet, Daria Diodato, et al.
Brain : a Journal of Neurology|February 11, 2022
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndromeSarah L Stenton, Marketa Tesarova, Natalia L Sheremet, et al.
European Journal of Human Genetics : EJHG|May 3, 2024
COQ7 defect causes prenatal onset of mitochondrial CoQ<sub>10</sub> deficiency with cardiomyopathy and gastrointestinal obstructionIlaria Pettenuzzo, Sara Carli, Ana Sánchez-Cuesta, et al.
Neurology. Genetics|June 18, 2020
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophyMajida Charif, Arnaud Chevrollier, Naïg Gueguen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 11, 2014
Myoclonus in mitochondrial disordersMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Pageof 34