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Orphanet Journal of Rare Diseases|May 16, 2024
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studiesDaniele Sala, Silvia Marchet, Lorenzo Nanetti, 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.Biomolecules|September 27, 2025
A De Novo DNM1L Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic NeuropathyAlessia Nasca, Alessia Catania, Andrea Legati, et al.Cell Metabolism|July 5, 2011
In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axisCarlo Viscomi, Emanuela Bottani, Gabriele Civiletto, et al.Archives of Neurology|November 16, 2005
Muscle coenzyme Q10 level in statin-related myopathyCostanza Lamperti, Ali B Naini, Valeria Lucchini, et al.EMBO Molecular Medicine|October 13, 2018
Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesisGabriele Civiletto, Sukru Anil Dogan, Raffaele Cerutti, et al.Cell Metabolism|June 4, 2015
Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse modelsGabriele Civiletto, Tatiana Varanita, Raffaele Cerutti, et al.International Journal of Molecular Sciences|August 26, 2023
Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) SubjectsMirko Baglivo, Alessia Nasca, Eleonora Lamantea, 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.Pageof 13