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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.
Clinical Chemistry|February 16, 2026
Characterization of STRC Gene Conversions by Nanopore SequencingChiara Rigon, Ugo Sorrentino, Sara Volta, et al.
Neuromuscular Disorders : NMD|May 31, 2022
A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathyOlimpia Musumeci, Alessia Pugliese, Rosaria Oteri, et al.
Frontiers in Neurology|March 21, 2022
Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic AspectsAntonino Lupica, Rosaria Oteri, Sara Volta, et al.
European Journal of Neurology|March 17, 2026
Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like FeaturesGiuliana Capece, Luca Caumo, Sara Volta, et al.
Redox Biology|November 29, 2023
Organic Selenium induces ferroptosis in pancreatic cancer cellsRoberta Noè, Noemi Inglese, Patrizia Romani, et al.
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