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Journal of Clinical Medicine|February 15, 2022
Molecular Genetics Overview of Primary Mitochondrial MyopathiesIgnazio Giuseppe Arena, Alessia Pugliese, Sara Volta, et al.Journal of Neurology|April 10, 2026
Non-invasive biomarkers for diagnosis and monitoring of primary mitochondrial diseasesIgnazio Giuseppe Arena, Shamini Saravanabavan, Rita Horvath, et al.Cerebellum (London, England)|September 4, 2024
Pseudodominance in RFC1-Spectrum DisorderGrazia Maria Igea Falcone, Alessandra Tessa, Ignazio Giuseppe Arena, et al.Frontiers in Genetics|June 17, 2022
Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA DeletionsArianna Manini, Leonardo Caporali, Megi Meneri, et al.Neurology|January 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort StudyPiervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock, et al.Pageof 1