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Molecular Therapy : the Journal of the American Society of Gene Therapy|September 25, 2025
Gene therapy and mRNA drugs approach for mitochondrial OXPHOS deficienciesCaterina Garone, Silvia Sabeni, Sara CarliNeurobiology of Disease|March 17, 2023
A comprehensive longitudinal study of magnetic resonance imaging identifies novel features of the Mecp2 deficient mouse brainSara Carli, Linda Chaabane, Giuseppina De Rocco, et al.Journal of Neurochemistry|January 15, 2021
In vivo magnetic resonance spectroscopy in the brain of Cdkl5 null mice reveals a metabolic profile indicative of mitochondrial dysfunctionsSara Carli, Linda Chaabane, Clarissa Butti, et al.Neurology|March 3, 2025
Infantile TK2 Deficiency Causing Mitochondrial Encephalomyopathy With Migrating Focal SeizuresLuca Bergonzini, Sara Carli, Silvia Pelle, et al.Molecular Neurobiology|November 8, 2018
A Novel Mecp2<sup>Y120D</sup> Knock-in Model Displays Similar Behavioral Traits But Distinct Molecular Features Compared to the Mecp2-Null Mouse Implying Precision Medicine for the Treatment of Rett SyndromeAnna Gandaglia, Elena Brivio, Sara Carli, 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.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.Brain Communications|May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcomeEleonora Manzoni, Sara Carli, Pauline Gaignard, et al.Pageof 1