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Journal of Medical Genetics|October 29, 2017
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathyAndrea Legati, Aurelio Reyes, Camilla Ceccatelli Berti, et al.Clinical Therapeutics|March 14, 2025
PHEMI-Phenylbutyrate in Patients With Lactic Acidosis: A Pilot, Single Arm, Phase I/II, Open-Label TrialSilvia Marchet, Alessia Catania, Anna Ardissone, et al.American Journal of Physiology. Gastrointestinal and Liver Physiology|February 4, 2017
Nitric oxide regulates homeoprotein OTX1 and OTX2 expression in the rat myenteric plexus after intestinal ischemia-reperfusion injuryViviana Filpa, Elisa Carpanese, Silvia Marchet, et al.Frontiers in Neurology|June 28, 2021
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic VariantsLorenzo Peverelli, Alessia Catania, Silvia Marchet, et al.International Journal of Molecular Sciences|July 27, 2024
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory VomitingBeatrice Berti, Daniela Verrigni, Alessia Nasca, et al.Neurology. Genetics|November 19, 2020
Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from ItalyVincenzo Montano, Francesco Gruosso, Valerio Carelli, et al.Neurology. Genetics|February 12, 2020
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutationsEnrico Bugiardini, Emanuela Bottani, Silvia Marchet, et al.Cell Metabolism|December 25, 2016
Transcription Factor EB Controls Metabolic Flexibility during ExerciseGelsomina Mansueto, Andrea Armani, Carlo Viscomi, et al.Human Mutation|February 26, 2019
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathyDaniela Verrigni, Michela Di Nottia, Anna Ardissone, et al.American Journal of Human Genetics|September 2, 2014
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiencyLaura Melchionda, Tobias B Haack, Steven Hardy, et al.Pageof 4