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Bioscience Reports|June 27, 2013
Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modificationsTatjana M Hildebrandt, Ivano Di Meo, Massimo Zeviani, et al.Antioxidants & Redox Signaling|September 4, 2010
Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathyIvano Di Meo, Gigliola Fagiolari, Alessandro Prelle, et al.Nature Reviews. Neurology|October 18, 2022
Gene therapy for primary mitochondrial diseases: experimental advances and clinical challengesMicol Falabella, Michal Minczuk, Michael G Hanna, et al.Brain : a Journal of Neurology|March 2, 2023
Variants in ATP5F1B are associated with dominantly inherited dystoniaAlessia Nasca, Niccolò E Mencacci, Federica Invernizzi, et al.Annals of Clinical and Translational Neurology|May 15, 2024
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseasesChiara Cavestro, Francesca Morra, Andrea Legati, et al.Annals of Clinical and Translational Neurology|March 27, 2019
A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonusSimon Lamquet, Eliana M Ramos, Andrea Legati, et al.Elife|October 12, 2023
Structural rather than catalytic role for mitochondrial respiratory chain supercomplexesMichele Brischigliaro, Alfredo Cabrera-Orefice, Susanne Arnold, et al.Neuropediatrics|November 7, 2023
A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in ChildhoodGiulia Ferrera, Rossella Izzo, Daniele Ghezzi, et al.Molecular Genetics and Metabolism Reports|March 1, 2016
Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetranceAnna Ardissone, Federica Invernizzi, Alessia Nasca, et al.Journal of Child Neurology|April 25, 2015
Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement DisordersDavide Tonduti, Giovanna Zorzi, Daniele Ghezzi, et al.Pageof 26