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Advanced Genetics (Hoboken, N.J.)|March 23, 2022
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial DiseaseAmel Karaa, Laura E MacMullen, John C Campbell, 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.Genes|July 29, 2023
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemiaFederica Invernizzi, Rossella Izzo, Isabel Colangelo, et al.Proceedings of the National Academy of Sciences of the United States of America|October 19, 2007
Distinctive patterns of microRNA expression in primary muscular disordersIris Eisenberg, Alal Eran, Ichizo Nishino, et al.Journal of Neurology|February 3, 2019
Muscle pain in mitochondrial diseases: a picture from the Italian networkMassimiliano Filosto, Stefano Cotti Piccinelli, Costanza Lamperti, 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.Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.Mitochondrion|August 14, 2021
The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypesVeria Vacchiano, Leonardo Caporali, Chiara La Morgia, 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.Pageof 13