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Cardiovascular Research|July 3, 2023
Tissue-specific differences in the assembly of mitochondrial Complex I are revealed by a novel ENU mutation in ECSITThomas Nicol, Sara Falcone, Andrew Blease, et al.Brain Communications|June 19, 2026
Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiencyMichio Hirano, Caterina Garone, Richard Haas, et al.Brain : a Journal of Neurology|April 15, 2014
Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathyBeatriz Garcia-Diaz, Caterina Garone, Emanuele Barca, et al.Neurology. Genetics|January 18, 2024
Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental DisorderAndrea Pietra, Flavia Palombo, Melania Giannotta, et al.Plos Biology|December 6, 2019
The homeostatic dynamics of feeding behaviour identify novel mechanisms of anorectic agentsThomas M McGrath, Eleanor Spreckley, Aina Fernandez Rodriguez, et al.Journal of Neurology|July 15, 2009
Prospective study on long-term treatment with oxcarbazepine in pediatric epilepsyEmilio Franzoni, Valentina Gentile, Alessandro Pellicciari, et al.Annals of Neurology|March 21, 2017
Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 DeficiencyCarlos Lopez-Gomez, Rebecca J Levy, Maria J Sanchez-Quintero, et al.The Journal of Biological Chemistry|May 11, 2018
Control of mitochondrial superoxide production by reverse electron transport at complex IEllen L Robb, Andrew R Hall, Tracy A Prime, et al.Brain : a Journal of Neurology|April 20, 2010
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromesCharalampos Tzoulis, Gesche Neckelmann, Sverre J Mørk, et al.Journal of Inherited Metabolic Disease|October 25, 2011
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathyCarla Giordano, Carlo Viscomi, Maurizia Orlandi, et al.Pageof 15